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34 records shown · first 60Colorimetric loop-mediated isothermal amplification (cLAMP) assay for the genotyping of a thrombophilia genetic risk factor, MTHFR (C677T).
PMID 40392249 | DOI 10.1039/d5ay00215j · Analytical methods : advancing methods and applications · 2025 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | C677T | “A single nucleotide polymorphism (SNP) of MTHFR (rs1801133; C677T) is strongly associated with an increased risk of thrombophilia, heart attack, stroke, and dementia.” | 0.82 | literature_variant_regex_v2 |
| gene | MTHFR | “Colorimetric loop-mediated isothermal amplification (cLAMP) assay for the genotyping of a thrombophilia genetic risk factor, MTHFR (C677T).” | 0.98 | hgnc_dict_v1 |
| phenotype | stroke | “A single nucleotide polymorphism (SNP) of MTHFR (rs1801133; C677T) is strongly associated with an increased risk of thrombophilia, heart attack, stroke, and dementia.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | myocardial infarction | “A single nucleotide polymorphism (SNP) of MTHFR (rs1801133; C677T) is strongly associated with an increased risk of thrombophilia, heart attack, stroke, and dementia.” | 0.93 | phenotype_alias_lexicon_v2 |
Methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms are associated with major depressive disorder in the Saudi patients attending Erada complex for mental health and Erada services - Jeddah, Saudi Arabia.
PMID 39871098 | DOI 10.1691/ph.2024.4601 · Die Pharmazie · 2024 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | C677T | “Methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms are associated with major depressive disorder in the Saudi patients attending Erada complex for mental health and Erada services - Jeddah, Saudi Arabia.” | 0.82 | literature_variant_regex_v2 |
| gene | MTHFR | “Methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms are associated with major depressive disorder in the Saudi patients attending Erada complex for mental health and Erada services - Jeddah, Saudi Arabia.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia, Jeddah | “Methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms are associated with major depressive disorder in the Saudi patients attending Erada complex for mental health and Erada services - Jeddah, Saudi Arabia. Study aim: This study explored the association between MTHFR C677T and A1298C polymorphisms among Saudi MDD patients attending the Erada Complex for Mental Health and Erada Services outpatient clinic in Jeddah, Saudi Arabia. Methods: The study involved 87 MDD patients and 87 control subjects. Results: A significant difference was observed in the distribution of genotype frequencies for MTHFR C677T and A1298C polymorphisms between MDD patients and controls in the Saudi cohort (C677T: P = 0.001; A1298C: P = 0.01) Risk analysis indicated that individuals with the mutant TT genotype of the C677T polymorphism (Odd Ratio (OR) = 6.80, CI 95% = 1.47-31.36, P = 0.01) and the mutant CC genotype of the A1298C polymorphism (OR = 2.64, CI 95% = 1.36-5.13, P = 0.004) are more common in MDD patients, suggesting a higher risk for depression.” | 0.95 | saudi_context_rules_v1 |
| variant | A1298C | “Methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C polymorphisms are associated with major depressive disorder in the Saudi patients attending Erada complex for mental health and Erada services - Jeddah, Saudi Arabia.” | 0.82 | literature_variant_regex_v2 |
Maternal Thrombophilic and Hypofibrinolytic Genetic Variants in Idiopathic Recurrent Pregnancy Loss: a Continuing Mystery.
PMID 35969362 | DOI 10.1007/s43032-022-01063-1 · Reproductive sciences (Thousand Oaks, Calif.) · 2023 · 19 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | C677T | “Thirteen genetic variants, including FV G1691A, FV A4070G, F2 G20210A, F13A1 G103T, FGB - 455G > A, PAI-1 - 675 4G/5G, ITGB3 T1565C, MTHFR C677T, MTHFR A1298C, ACE I/D, APOB G10708A, APOE T388C, and APOE C526T were genotyped using ViennaLab StripAssay.” | 0.82 | literature_variant_regex_v2 |
| gene | F13A1 | “Thirteen genetic variants, including FV G1691A, FV A4070G, F2 G20210A, F13A1 G103T, FGB - 455G > A, PAI-1 - 675 4G/5G, ITGB3 T1565C, MTHFR C677T, MTHFR A1298C, ACE I/D, APOB G10708A, APOE T388C, and APOE C526T were genotyped using ViennaLab StripAssay.” | 0.98 | hgnc_dict_v1 |
| gene | FGB | “Thirteen genetic variants, including FV G1691A, FV A4070G, F2 G20210A, F13A1 G103T, FGB - 455G > A, PAI-1 - 675 4G/5G, ITGB3 T1565C, MTHFR C677T, MTHFR A1298C, ACE I/D, APOB G10708A, APOE T388C, and APOE C526T were genotyped using ViennaLab StripAssay.” | 0.98 | hgnc_dict_v1 |
| gene | ITGB3 | “Thirteen genetic variants, including FV G1691A, FV A4070G, F2 G20210A, F13A1 G103T, FGB - 455G > A, PAI-1 - 675 4G/5G, ITGB3 T1565C, MTHFR C677T, MTHFR A1298C, ACE I/D, APOB G10708A, APOE T388C, and APOE C526T were genotyped using ViennaLab StripAssay.” | 0.98 | hgnc_dict_v1 |
Biochemical Association of MTHFR C677T Polymorphism with Myocardial Infarction in the Presence of Diabetes Mellitus as a Risk Factor.
PMID 36837870 | PMCID PMC9958922 | DOI 10.3390/metabo13020251 · Metabolites · 2023 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | C677T | “Biochemical Association of MTHFR C677T Polymorphism with Myocardial Infarction in the Presence of Diabetes Mellitus as a Risk Factor.” | 0.82 | literature_variant_regex_v2 |
| gene | MTHFR | “Biochemical Association of MTHFR C677T Polymorphism with Myocardial Infarction in the Presence of Diabetes Mellitus as a Risk Factor.” | 0.98 | hgnc_dict_v1 |
| phenotype | myocardial infarction | “Biochemical Association of MTHFR C677T Polymorphism with Myocardial Infarction in the Presence of Diabetes Mellitus as a Risk Factor.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | diabetes mellitus | “Biochemical Association of MTHFR C677T Polymorphism with Myocardial Infarction in the Presence of Diabetes Mellitus as a Risk Factor.” | 0.98 | phenotype_alias_lexicon_v2 |
Genetic Variants in the Mitochondrial Thymidylate Biosynthesis Pathway Increase Colorectal Cancer Risk.
PMID 37754498 | PMCID PMC10529222 | DOI 10.3390/curroncol30090583 · Current oncology (Toronto, Ont.) · 2023 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | C677T | “Genotype distributions of the 5,10-methylenetetrahydrofolate reductase (MTHFR) C677T variant for patients were (χ2 = 22.43) and for controls were (χ2 = 0.07); for the MTHFR A1298C variant, they were (χ2 = 54.44) for patients and (χ2 = 4.58) for controls.” | 0.82 | literature_variant_regex_v2 |
| gene | CDA | “The Lys27Gln variant of cytidine deaminase (CDA) showed a risk ratio (RR) of 1.47 for heterozygous (AC) carriers, with genotype distributions for patients (χ2 = 1.97) and controls (χ2 = 14.7).” | 0.98 | hgnc_dict_v1 |
| gene | MTHFR | “Genotype distributions of the 5,10-methylenetetrahydrofolate reductase (MTHFR) C677T variant for patients were (χ2 = 22.43) and for controls were (χ2 = 0.07); for the MTHFR A1298C variant, they were (χ2 = 54.44) for patients and (χ2 = 4.58) for controls.” | 0.98 | hgnc_dict_v1 |
| phenotype | colorectal cancer | “Genetic Variants in the Mitochondrial Thymidylate Biosynthesis Pathway Increase Colorectal Cancer Risk.” | 0.98 | phenotype_alias_lexicon_v2 |
Detection of Methylene Tetrahydrofolate Reductase (MTHFR C677T) Mutation among Acute Lymphoblastic Leukemia in Sudanese Patients.
PMID 38618256 | PMCID PMC11015921 | DOI 10.61186/rbmb.12.3.458 · Reports of biochemistry & molecular biology · 2023 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | C677T | “Detection of Methylene Tetrahydrofolate Reductase (MTHFR C677T) Mutation among Acute Lymphoblastic Leukemia in Sudanese Patients.” | 0.82 | literature_variant_regex_v2 |
| gene | MTHFR | “Detection of Methylene Tetrahydrofolate Reductase (MTHFR C677T) Mutation among Acute Lymphoblastic Leukemia in Sudanese Patients.” | 0.98 | hgnc_dict_v1 |
| phenotype | leukemia | “Detection of Methylene Tetrahydrofolate Reductase (MTHFR C677T) Mutation among Acute Lymphoblastic Leukemia in Sudanese Patients.” | 0.98 | phenotype_alias_lexicon_v2 |
The Association Between MTHFR C677T Gene Polymorphism and Repeated Pregnancy Loss in Arabic Countries: a Systematic Review and Meta-Analysis.
PMID 36854824 | DOI 10.1007/s43032-023-01201-3 · Reproductive sciences (Thousand Oaks, Calif.) · 2023 · 2 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | C677T | “The Association Between MTHFR C677T Gene Polymorphism and Repeated Pregnancy Loss in Arabic Countries: a Systematic Review and Meta-Analysis.” | 0.82 | literature_variant_regex_v2 |
| gene | MTHFR | “The Association Between MTHFR C677T Gene Polymorphism and Repeated Pregnancy Loss in Arabic Countries: a Systematic Review and Meta-Analysis.” | 0.98 | hgnc_dict_v1 |
Role of metabolizing MTHFR gene polymorphism (rs1801133) and its mRNA expression among Type 2 Diabetes.
PMID 35673506 | PMCID PMC9167251 | DOI 10.1007/s40200-022-01001-7 · Journal of diabetes and metabolic disorders · 2022 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | C677T | “OBJECTIVE: Type 2 Diabetes is a glucose metabolic disorder occurred by insulin insensitivity in which folate metabolism plays an important role. it is believed that polymorphism of Methylenetetrahydrofolate reductase (MTHFR) C677T linked with type 2 diabetes mellitus.” | 0.82 | literature_variant_regex_v2 |
| gene | MTHFR | “Role of metabolizing MTHFR gene polymorphism (rs1801133) and its mRNA expression among Type 2 Diabetes.” | 0.98 | hgnc_dict_v1 |
| phenotype | diabetes mellitus | “Role of metabolizing MTHFR gene polymorphism (rs1801133) and its mRNA expression among Type 2 Diabetes.” | 0.93 | phenotype_alias_lexicon_v2 |
| variant | rs1801133 | “Role of metabolizing MTHFR gene polymorphism (rs1801133) and its mRNA expression among Type 2 Diabetes.” | 0.90 | hgvs_regex_v1 |
Prevalence of methylenetetrahydrofolate reductase gene polymorphisms (C677T, and A1298C) among Saudi children receiving dental treatment.
PMID 33550905 | PMCID PMC7868620 | DOI 10.5144/0256-4947.2021.1 · Annals of Saudi medicine · 2021 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | C677T | “Prevalence of methylenetetrahydrofolate reductase gene polymorphisms (C677T, and A1298C) among Saudi children receiving dental treatment.” | 0.82 | literature_variant_regex_v2 |
| gene | MTHFR | “BACKGROUND: Methylenetetrahydrofolate reductase, the encoded by the MTHFR gene, plays a crucial role in converting the amino acid homocysteine to methionine.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “Prevalence of methylenetetrahydrofolate reductase gene polymorphisms (C677T, and A1298C) among Saudi children receiving dental treatment. SUBJECTS AND METHODS: Healthy Saudi children 6-12 years old with no known allergies were screened for eligibility between May and December 2019. Therefore, caution is advised in using N2O in Saudi children as the increased prevalence of this MTHFR allele may increase the incidence of serious adverse effects among these children. LIMITATIONS: Further studies are recommended with a larger sample size from randomly selected hospitals from different regions of Saudi Arabia.” | 0.95 | saudi_context_rules_v1 |
| variant | A1298C | “Prevalence of methylenetetrahydrofolate reductase gene polymorphisms (C677T, and A1298C) among Saudi children receiving dental treatment.” | 0.82 | literature_variant_regex_v2 |
MTHFR C677T Polymorphism and Serum Homocysteine Level as Risk Factors of Coronary Heart Disease in Patients with Androgenetic Alopecia: A Case Control Study.
PMID 34192512 | DOI 10.1016/j.amjms.2021.06.013 · The American journal of the medical sciences · 2021 · 2 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | C677T | “MTHFR C677T Polymorphism and Serum Homocysteine Level as Risk Factors of Coronary Heart Disease in Patients with Androgenetic Alopecia: A Case Control Study.” | 0.82 | literature_variant_regex_v2 |
| gene | MTHFR | “MTHFR C677T Polymorphism and Serum Homocysteine Level as Risk Factors of Coronary Heart Disease in Patients with Androgenetic Alopecia: A Case Control Study.” | 0.98 | hgnc_dict_v1 |
Association of methylenetetrahydrofolate reductase C677T and reduced-f carrier-1 G80A gene polymorphism with preeclampsia in Sudanese women.
PMID 32013623 | DOI 10.1080/10641955.2020.1725037 · Hypertension in pregnancy · 2020 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | C677T | “Association of methylenetetrahydrofolate reductase C677T and reduced-f carrier-1 G80A gene polymorphism with preeclampsia in Sudanese women.” | 0.82 | literature_variant_regex_v2 |
| gene | MTHFR | “Purpose: To assess the associations between preeclampsia, methylenetetrahydrofolate reductase (MTHFR) C677T, and reduced folate carrier-1 (RFC-1) G80A gene polymorphism in Sudanese women.Methods: A matched (for age and parity) case-control study was conducted in a tertiary hospital (Saad Abualila) in Khartoum, Sudan during February to September 2018.” | 0.98 | hgnc_dict_v1 |
| phenotype | pre-eclampsia | “Association of methylenetetrahydrofolate reductase C677T and reduced-f carrier-1 G80A gene polymorphism with preeclampsia in Sudanese women.” | 0.93 | phenotype_alias_lexicon_v2 |
| variant | G80A | “Association of methylenetetrahydrofolate reductase C677T and reduced-f carrier-1 G80A gene polymorphism with preeclampsia in Sudanese women.” | 0.82 | literature_variant_regex_v2 |
Methylenetetrahydrofolate Reductase C677T Gene Polymorphism as Risk Factor for Psoriasis in Saudis.
PMID 30828245 | PMCID PMC6390219 | DOI 10.1177/1177271919830973 · Biomarker insights · 2019 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | C677T | “Methylenetetrahydrofolate Reductase C677T Gene Polymorphism as Risk Factor for Psoriasis in Saudis.” | 0.82 | literature_variant_regex_v2 |
| gene | MTHFR | “Methylenetetrahydrofolate reductase (MTHFR) has been linked with the etiopathogenesis of psoriasis with inconsistent results.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “Methylenetetrahydrofolate reductase C677T polymorphism was evaluated in 106 Saudi psoriasis vulgaris patients and 280 matched healthy controls using PCR-RFLP (restriction fragment length plymorphism) technique. It is concluded that the MTHFR C677T polymorphism increases psoriasis risk in Saudi patients.” | 0.95 | saudi_context_rules_v1 |
Application of adaptive neuro-fuzzy inference systems (ANFIS) to delineate estradiol, glutathione and homocysteine interactions.
PMID 29072168 | DOI 10.1016/j.clnesp.2017.03.007 · Clinical nutrition ESPEN · 2017 · 2 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | C677T | “Chemiluminescence technology for vitamin B12, folate and total plasma homocysteine; ELISA for estradiol and 8-oxo-2-deoxyguanosine; Ellman's method for total glutathione; and PCR-RFLP analysis for the detection of methylene tetrahydrofolate reductase (MTHFR) C677T polymorphism were employed.” | 0.82 | literature_variant_regex_v2 |
| gene | MTHFR | “Chemiluminescence technology for vitamin B12, folate and total plasma homocysteine; ELISA for estradiol and 8-oxo-2-deoxyguanosine; Ellman's method for total glutathione; and PCR-RFLP analysis for the detection of methylene tetrahydrofolate reductase (MTHFR) C677T polymorphism were employed.” | 0.98 | hgnc_dict_v1 |
Associations of recurrent miscarriages with chromosomal abnormalities, thrombophilia allelic polymorphisms and/or consanguinity in Saudi Arabia.
PMID 27766963 | PMCID PMC5073987 | DOI 10.1186/s12881-016-0331-1 · BMC medical genetics · 2016 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | C677T | “Allelic polymorphisms of three thrombophilic genes (Factor V Leiden, Prothrombin A20210G, MTHFR C677T) were performed using PCR-RFLP (restriction fragment length polymorphism) and gel electrophoresis.” | 0.82 | literature_variant_regex_v2 |
| gene | MTHFR | “Allelic polymorphisms of three thrombophilic genes (Factor V Leiden, Prothrombin A20210G, MTHFR C677T) were performed using PCR-RFLP (restriction fragment length polymorphism) and gel electrophoresis.” | 0.98 | hgnc_dict_v1 |
| gene | PGD | “Given the high rate of consanguineous marriages in the Saudi population, these results underline the importance of systematic cytogenetic investigation and genetic counseling preferably at the premarital stage or at least during early pregnancy phase through preimplantation genetic diagnosis (PGD).” | 0.98 | hgnc_dict_v1 |
| phenotype | recurrent pregnancy loss | “BACKGROUND: Recurrent pregnancy loss (RPL) or recurrent spontaneous abortion is an obstetric complication that affects couples at reproductive age.” | 0.98 | phenotype_alias_lexicon_v2 |
Population-level diversity in the association of genetic polymorphisms of one-carbon metabolism with breast cancer risk.
PMID 27541683 | PMCID PMC5138163 | DOI 10.1007/s12687-016-0277-1 · Journal of community genetics · 2016 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | C677T | “Out of the eight polymorphisms analyzed, methylenetetrahydrofolate reductase (MTHFR) C677T exhibited positive association with the breast cancer risk in both fixed effects (OR 1.14, 95 % CI 1.10-1.17) and random effects (OR 1.10, 95 % CI 1.02-1.18) models.” | 0.82 | literature_variant_regex_v2 |
| gene | MTHFR | “Out of the eight polymorphisms analyzed, methylenetetrahydrofolate reductase (MTHFR) C677T exhibited positive association with the breast cancer risk in both fixed effects (OR 1.14, 95 % CI 1.10-1.17) and random effects (OR 1.10, 95 % CI 1.02-1.18) models.” | 0.98 | hgnc_dict_v1 |
| gene | SLC19A1 | “Solute carrier family 19 (folate transporter), member 1 (SLC19A1) G80A exhibited positive association (OR 1.16, 95 % CI 1.03-1.31) while MTR A2756G exhibited an inverse association (OR 0.78, 95 % CI 0.75-0.82) with the breast in fixed effect model alone.” | 0.98 | hgnc_dict_v1 |
| gene | SHMT1 | “Altitude-level variations were observed in the association of SHMT1 C1420T with breast cancer.” | 0.98 | hgnc_dict_v1 |
Clinical utility of folate pathway genetic polymorphisms in the diagnosis of autism spectrum disorders.
PMID 27755291 | DOI 10.1097/YPG.0000000000000152 · Psychiatric genetics · 2016 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | C677T | “BACKGROUND: The rationale of the current study was to test the clinical utility of the folate pathway genetic polymorphisms in predicting the risk for autism spectrum disorders (ASD) and to address the inconsistencies in the association of MTHFR C677T and hyperhomocysteinemia with ASD.” | 0.82 | literature_variant_regex_v2 |
| gene | MTHFR | “BACKGROUND: The rationale of the current study was to test the clinical utility of the folate pathway genetic polymorphisms in predicting the risk for autism spectrum disorders (ASD) and to address the inconsistencies in the association of MTHFR C677T and hyperhomocysteinemia with ASD.” | 0.98 | hgnc_dict_v1 |
| gene | SHMT1 | “PATIENTS AND METHODS: An artificial neural network (ANN) model was developed from the data of 138 autistic and 138 nonautistic children using GCPII C1561T, SHMT1 C1420T, MTHFR C677T, MTR A2756G, and MTRR A66G as the predictors of autism risk.” | 0.98 | hgnc_dict_v1 |
| gene | MTRR | “PATIENTS AND METHODS: An artificial neural network (ANN) model was developed from the data of 138 autistic and 138 nonautistic children using GCPII C1561T, SHMT1 C1420T, MTHFR C677T, MTR A2756G, and MTRR A66G as the predictors of autism risk.” | 0.98 | hgnc_dict_v1 |
Association of the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism with primary glaucoma in Saudi population.
PMID 27585654 | PMCID PMC5009653 | DOI 10.1186/s12886-016-0337-7 · BMC ophthalmology · 2016 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | C677T | “Association of the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism with primary glaucoma in Saudi population.” | 0.82 | literature_variant_regex_v2 |
| gene | MTHFR | “Association of the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism with primary glaucoma in Saudi population.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “Association of the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism with primary glaucoma in Saudi population. Two hundred ten primary glaucoma cases were studied for MTHFR C677T polymorphism and compared with 280 controls taken from the healthy population, employing the polymerase chain reaction-restriction fragment length polymorphism technique (PCR-RFLP). We conclude that the MTHFR C677T polymorphism increases the risk for POAG development in Saudi population and can be a genetic marker however, further studies are needed with multiple-ethnic populations affected with POAG to strengthen these findings.” | 0.95 | saudi_context_rules_v1 |
Evaluation of Gestational Diabetes Mellitus Risk in South Indian Women Based on MTHFR (C677T) and FVL (G1691A) Mutations.
PMID 26000264 | PMCID PMC4419678 | DOI 10.3389/fped.2015.00034 · Frontiers in pediatrics · 2015 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | C677T | “Evaluation of Gestational Diabetes Mellitus Risk in South Indian Women Based on MTHFR (C677T) and FVL (G1691A) Mutations.” | 0.82 | literature_variant_regex_v2 |
| gene | MTHFR | “Evaluation of Gestational Diabetes Mellitus Risk in South Indian Women Based on MTHFR (C677T) and FVL (G1691A) Mutations.” | 0.98 | hgnc_dict_v1 |
| phenotype | diabetes mellitus | “Evaluation of Gestational Diabetes Mellitus Risk in South Indian Women Based on MTHFR (C677T) and FVL (G1691A) Mutations.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | G1691A | “Evaluation of Gestational Diabetes Mellitus Risk in South Indian Women Based on MTHFR (C677T) and FVL (G1691A) Mutations.” | 0.82 | literature_variant_regex_v2 |
Impact of MTHFR (C677T) gene polymorphism on antiepileptic drug monotherapy in North Indian epileptic population.
PMID 26142939 | PMCID PMC6152547 | DOI 10.5144/0256-4947.2015.51 · Annals of Saudi medicine · 2015 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | C677T | “Impact of MTHFR (C677T) gene polymorphism on antiepileptic drug monotherapy in North Indian epileptic population.” | 0.82 | literature_variant_regex_v2 |
| gene | MTHFR | “Impact of MTHFR (C677T) gene polymorphism on antiepileptic drug monotherapy in North Indian epileptic population.” | 0.98 | hgnc_dict_v1 |
| phenotype | epilepsy | “CONCLUSION: The result confirmed that hyperhomocysteinemia is common in adults receiving AED treatment for epilepsy with toxicity and non-toxicity groups.” | 0.98 | phenotype_alias_lexicon_v2 |
ACE I/D and MTHFR C677T polymorphisms are significantly associated with type 2 diabetes in Arab ethnicity: a meta-analysis.
PMID 23458876 | DOI 10.1016/j.gene.2013.02.017 · Gene · 2013 · 20 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | C677T | “ACE I/D and MTHFR C677T polymorphisms are significantly associated with type 2 diabetes in Arab ethnicity: a meta-analysis.” | 0.82 | literature_variant_regex_v2 |
| gene | ACE | “ACE I/D and MTHFR C677T polymorphisms are significantly associated with type 2 diabetes in Arab ethnicity: a meta-analysis.” | 0.98 | hgnc_dict_v1 |
| gene | MTHFR | “ACE I/D and MTHFR C677T polymorphisms are significantly associated with type 2 diabetes in Arab ethnicity: a meta-analysis.” | 0.98 | hgnc_dict_v1 |
| gene | TCF7L2 | “It was found that TCF7L2 rs7903146 was significantly associated with a pooled OR of 1.155 (95%C.I.=1.059-1.259), p<0.0001 and I(2)=78.30% among the Arab population, whereas among Caucasians, the pooled OR was 1.45 (95%C.I.=1.386-1.516), p<0.0001 and I(2)=77.20%.” | 0.98 | hgnc_dict_v1 |
Combination of factor V Leiden and MTHFR mutations in myocardial infarction.
PMID 22750768 | PMCID PMC6078621 | DOI 10.5144/0256-4947.2012.01.7.1520 · Annals of Saudi medicine · 2013 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | C677T | “Genetic testing revealed the subject to be heterozygous for both the factor V leiden and MTHFR C677T polymorphisms.” | 0.82 | literature_variant_regex_v2 |
| gene | MTHFR | “Combination of factor V Leiden and MTHFR mutations in myocardial infarction.” | 0.98 | hgnc_dict_v1 |
| phenotype | myocardial infarction | “Combination of factor V Leiden and MTHFR mutations in myocardial infarction.” | 0.98 | phenotype_alias_lexicon_v2 |
Association of MTHFR C677T and A1298C gene polymorphisms with hypertension.
PMID 23267299 | PMCID PMC3523778 | DOI 10.12816/0005968 · International journal of health sciences · 2012 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | C677T | “Association of MTHFR C677T and A1298C gene polymorphisms with hypertension.” | 0.82 | literature_variant_regex_v2 |
| gene | MTHFR | “Association of MTHFR C677T and A1298C gene polymorphisms with hypertension.” | 0.98 | hgnc_dict_v1 |
| phenotype | hypertension | “Association of MTHFR C677T and A1298C gene polymorphisms with hypertension.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | obesity | “The same was observed among cases-subgroups of hypertension associated with obesity with a notably higher odds ratio (OR=2.6, 95% CI=1.3-5.01, p=0.004).” | 0.98 | phenotype_alias_lexicon_v2 |
Thrombophilic gene polymorphism studies in G6PD deficient individuals from Saudi population.
PMID 23275730 | PMCID PMC3532010 | DOI 10.6026/97320630081255 · Bioinformation · 2012 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | C677T | “We performed a study to evaluate the role of three single nucleotide polymorphisms (SNPs), factor V Leiden G1691A (FVL), prothrombin gene mutation G20210A (PRT or FII-G20210A) and methylenotetrahydrofolate reductase variant C677T (MTHFRC677T), as risk factors for G6PD in Saudi populations.” | 0.82 | literature_variant_regex_v2 |
| gene | G6PD | “Thrombophilic gene polymorphism studies in G6PD deficient individuals from Saudi population.” | 0.98 | hgnc_dict_v1 |
| gene | MTHFR | “In the MTHFR gene none of the genotypes or allele frequency cannot show any association OR=1.281, p=.0.667, (95% CI=0.414-3.958) and OR=1.1.172, p=0.800¸ (95% CI=0.343-4.008).” | 0.98 | hgnc_dict_v1 |
| phenotype | glucose-6-phosphate dehydrogenase deficiency | “Thrombophilic gene polymorphism studies in G6PD deficient individuals from Saudi population.” | 0.93 | phenotype_alias_lexicon_v2 |
Cerebral venous thrombosis associated with homozygous factor V Leiden mutation in a 15-year-old girl of Tunisian origin.
PMID 22048515 | PMCID PMC3221141 | DOI 10.4103/0256-4947.87106 · Annals of Saudi medicine · 2011 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | C677T | “In addition, inherited prothrombotic defects, such as protein C, protein S, and antithrombin deficiencies, and genetic mutations for FV Leiden, prothrombin gene G20210A (FII G20210A), and methyltetrahydrofolate reductase C677T (MTHFR C677T) were studied.” | 0.82 | literature_variant_regex_v2 |
| gene | MTHFR | “In addition, inherited prothrombotic defects, such as protein C, protein S, and antithrombin deficiencies, and genetic mutations for FV Leiden, prothrombin gene G20210A (FII G20210A), and methyltetrahydrofolate reductase C677T (MTHFR C677T) were studied.” | 0.98 | hgnc_dict_v1 |
| phenotype | stroke | “An MRI showed thrombosis in the superior sagittal sinus, confirming venous stroke.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | G1691A | “Inherited or acquired prothrombotic states play a key role in the development of this disease, such as factor V G1691A mutation (FV Leiden).” | 0.82 | literature_variant_regex_v2 |
Breast cancer risk, dietary intake, and methylenetetrahydrofolate reductase (MTHFR)single nucleotide polymorphisms.
PMID 20417243 | DOI 10.1016/j.fct.2010.04.028 · Food and chemical toxicology : an international journal published for the British Industrial Biological Research Association · 2010 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | C677T | “Results of this study suggest that theMTHFR C677T polymorphism may modify the association between dietary intake and breast cancer risk.” | 0.82 | literature_variant_regex_v2 |
| gene | MTHFR | “Breast cancer risk, dietary intake, and methylenetetrahydrofolate reductase (MTHFR)single nucleotide polymorphisms.” | 0.98 | hgnc_dict_v1 |
| phenotype | breast cancer | “Breast cancer risk, dietary intake, and methylenetetrahydrofolate reductase (MTHFR)single nucleotide polymorphisms.” | 0.98 | phenotype_alias_lexicon_v2 |
Case-control Study of methylenetetrahydrofolate reductase mutations and hyperhomocysteinemia and risk of stroke.
PMID 19717029 | DOI 10.1016/j.jstrokecerebrovasdis.2008.12.003 · Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association · 2009 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | C677T | “The association of factor V-Leiden and methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C mutations with stroke was investigated in 118 patients with stroke and 120 control subjects.” | 0.82 | literature_variant_regex_v2 |
| gene | MTHFR | “The association of factor V-Leiden and methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C mutations with stroke was investigated in 118 patients with stroke and 120 control subjects.” | 0.98 | hgnc_dict_v1 |
| phenotype | stroke | “Case-control Study of methylenetetrahydrofolate reductase mutations and hyperhomocysteinemia and risk of stroke.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | hypertension | “In addition to hypertension, the significant predictors for stroke were MTHFR 677CT and TT and A1298CC genotypes, together with hyperhomocysteinemia, indicating a synergistic effect of MTHFR mutations with elevated homocysteine and other risk factors in pathogenesis of stroke.” | 0.98 | phenotype_alias_lexicon_v2 |
Thrombophilia-related genetic variations in patients with pulmonary embolism in the main teaching hospital in Jordan.
PMID 19618008 · Saudi medical journal · 2009 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | C677T | “OBJECTIVE: To study the frequency of Factor V Leiden (FVL), prothrombin gene mutation G20210A and methylenetetrahydrofolate reductase C677T in patients with acute pulmonary embolism (PE); and to investigate whether these factors are more frequent in patients who have no obvious risk factors for venous thrombo-embolism compared to those with obvious risk factors.” | 0.82 | literature_variant_regex_v2 |
| gene | MTHFR | “RESULTS: The frequency of these factors in patients were 22/92 (23.9%) FVL, 3/92 (3.3%) Factor II (FII) and 48/92 (52.2%) methylenetetrahydrofolate reductase (MTHFR).” | 0.98 | hgnc_dict_v1 |
| variant | G20210A | “OBJECTIVE: To study the frequency of Factor V Leiden (FVL), prothrombin gene mutation G20210A and methylenetetrahydrofolate reductase C677T in patients with acute pulmonary embolism (PE); and to investigate whether these factors are more frequent in patients who have no obvious risk factors for venous thrombo-embolism compared to those with obvious risk factors.” | 0.82 | literature_variant_regex_v2 |
Thrombophilia in young patients with acute myocardial infarction.
PMID 18176672 · Saudi medical journal · 2008 · 8 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | C677T | “Traditional risk factors of CAD and protein C, S, antithrombin III deficiencies, factor V Leiden (FV Leiden), prothrombin G20210A and methylenetetrahydrofolate reductase (MTHFR) C677T mutations were investigated.” | 0.82 | literature_variant_regex_v2 |
| gene | MTHFR | “Traditional risk factors of CAD and protein C, S, antithrombin III deficiencies, factor V Leiden (FV Leiden), prothrombin G20210A and methylenetetrahydrofolate reductase (MTHFR) C677T mutations were investigated.” | 0.98 | hgnc_dict_v1 |
| phenotype | myocardial infarction | “Thrombophilia in young patients with acute myocardial infarction.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | coronary artery disease | “OBJECTIVE: To investigate the association of thrombophilia and coronary artery disease (CAD) in patients with myocardial infarction (MI).” | 0.98 | phenotype_alias_lexicon_v2 |
Polymorphism in methylenetetrahydrofolate reductase, plasminogen activator inhibitor-1, and apolipoprotein E in hemodialysis patients.
PMID 18974580 · Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia · 2008 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | C677T | “Although allele frequency of C677T of MTHFR was statistically similar in the hemodialysis patients and in the control group, the homozygotes T allele genotype was over represented in the hemodialysis group compared to normal.” | 0.82 | literature_variant_regex_v2 |
| gene | MTHFR | “The methylenetetrahydrofolate reductase (MTHFR) gene polymorphism, apolipoprotein E (apo epsilon4) gene polymorphism and polymorphism of plasminogen activator inhibitor-1 (PAI-1) have been shown to be associated with end-stage renal disease (ESRD).” | 0.98 | hgnc_dict_v1 |
| phenotype | renal failure | “The methylenetetrahydrofolate reductase (MTHFR) gene polymorphism, apolipoprotein E (apo epsilon4) gene polymorphism and polymorphism of plasminogen activator inhibitor-1 (PAI-1) have been shown to be associated with end-stage renal disease (ESRD).” | 0.93 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia, Eastern Province | “To determine the prevalence of these mutations in Saudi patients with ESRD on hemodialysis, we studied the allelic frequency and genotype distribution in patients receiving hemodialysis and in a control group, all residing in the Eastern Province of Saudi Arabia.” | 0.95 | saudi_context_rules_v1 |
Genetic polymorphisms of methylenetetrahydrofolate reductase and promoter methylation of MGMT and FHIT genes in diffuse large B cell lymphoma risk in Middle East.
PMID 17712558 | DOI 10.1007/s00277-007-0350-2 · Annals of hematology · 2007 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | C677T | “Two common variants in the MTHFR gene (C677T and A1298C) have been associated with reduced enzyme activity, thereby making MTHFR polymorphisms a potential candidate as a cancer-predisposing factor.” | 0.82 | literature_variant_regex_v2 |
| gene | MGMT | “Genetic polymorphisms of methylenetetrahydrofolate reductase and promoter methylation of MGMT and FHIT genes in diffuse large B cell lymphoma risk in Middle East.” | 0.98 | hgnc_dict_v1 |
| gene | FHIT | “Genetic polymorphisms of methylenetetrahydrofolate reductase and promoter methylation of MGMT and FHIT genes in diffuse large B cell lymphoma risk in Middle East.” | 0.98 | hgnc_dict_v1 |
| gene | MTHFR | “Methylenetetrahydrofolate reductase (MTHFR) balances the pool of folate coenzymes in one carbon metabolism of deoxyribonucleic acid (DNA) synthesis and methylation; both are implicated in carcinogenesis of many types of cancer including lymphoma.” | 0.98 | hgnc_dict_v1 |
Association of the methylenetetrahydrofolate reductase A1298C but not the C677T single nucleotide polymorphism with sickle cell disease in Bahrain.
PMID 16987799 | DOI 10.1080/03630260600867958 · Hemoglobin · 2006 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | C677T | “Association of the methylenetetrahydrofolate reductase A1298C but not the C677T single nucleotide polymorphism with sickle cell disease in Bahrain.” | 0.82 | literature_variant_regex_v2 |
| gene | MTHFR | “The association of methylenetetrahydrofolate reductase (MTHFR) gene mutations, C677T and A1298C, together with changes in homocysteine (Hcy) levels was investigated in 106 sickle cell disease patients and 156 healthy controls from Bahrain.” | 0.98 | hgnc_dict_v1 |
| phenotype | sickle cell disease | “Association of the methylenetetrahydrofolate reductase A1298C but not the C677T single nucleotide polymorphism with sickle cell disease in Bahrain.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | A1298C | “Association of the methylenetetrahydrofolate reductase A1298C but not the C677T single nucleotide polymorphism with sickle cell disease in Bahrain.” | 0.82 | literature_variant_regex_v2 |
Frequency of methylenetetrahydrofolate reductase C677T polymorphism in patients with cardiovascular disease in Eastern Saudi Arabia.
PMID 16380767 · Saudi medical journal · 2005 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | C677T | “Frequency of methylenetetrahydrofolate reductase C677T polymorphism in patients with cardiovascular disease in Eastern Saudi Arabia.” | 0.82 | literature_variant_regex_v2 |
| gene | MTHFR | “OBJECTIVE: Homozygosity for the C677T mutation in the gene of the thermolabile enzyme 5,10 methylenetetrahydrofolate reductase (MTHFR) associates with reduced enzyme activity, leading to mild hyperhomocysteinemia.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia, Eastern Province | “Frequency of methylenetetrahydrofolate reductase C677T polymorphism in patients with cardiovascular disease in Eastern Saudi Arabia. The objective of this study was to determine the prevalence of the C677T mutation in Saudi patients diagnosed with CVD. METHODS: Over a period of 2 years (2003-2004) in a case control study, we determined the prevalence of the C677T mutation in 83 CVD patients and in 40 age and gender-matched controls in the Eastern Province of Saudi Arabia.” | 0.95 | saudi_context_rules_v1 |
Factor V-Leiden, prothrombin G20210A, and MTHFR C677T mutations among patients with sickle cell disease in Eastern Saudi Arabia.
PMID 15224376 | DOI 10.1002/ajh.20087 · American journal of hematology · 2004 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | C677T | “Factor V-Leiden, prothrombin G20210A, and MTHFR C677T mutations among patients with sickle cell disease in Eastern Saudi Arabia.” | 0.82 | literature_variant_regex_v2 |
| gene | MTHFR | “Factor V-Leiden, prothrombin G20210A, and MTHFR C677T mutations among patients with sickle cell disease in Eastern Saudi Arabia.” | 0.98 | hgnc_dict_v1 |
| phenotype | sickle cell disease | “Factor V-Leiden, prothrombin G20210A, and MTHFR C677T mutations among patients with sickle cell disease in Eastern Saudi Arabia.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “Factor V-Leiden, prothrombin G20210A, and MTHFR C677T mutations among patients with sickle cell disease in Eastern Saudi Arabia. The prevalence of factor V Leiden, prothrombin G20210A, and MTHFR C677T mutations were investigated among 87 Saudi sickle cell disease (SCD) patients (38 males and 49 females) and 105 healthy controls (65 males and 40 females).” | 0.95 | saudi_context_rules_v1 |
Factor V G1691A, prothrombin G20210A, and methylenetetrahydrofolate reductase [MTHFR] C677T gene polymorphism in angiographically documented coronary artery disease.
PMID 15353918 | DOI 10.1023/B:THRO.0000040489.86029.27 · Journal of thrombosis and thrombolysis · 2004 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | C677T | “Factor V G1691A, prothrombin G20210A, and methylenetetrahydrofolate reductase [MTHFR] C677T gene polymorphism in angiographically documented coronary artery disease.” | 0.82 | literature_variant_regex_v2 |
| gene | MTHFR | “Factor V G1691A, prothrombin G20210A, and methylenetetrahydrofolate reductase [MTHFR] C677T gene polymorphism in angiographically documented coronary artery disease.” | 0.98 | hgnc_dict_v1 |
| phenotype | coronary artery disease | “Factor V G1691A, prothrombin G20210A, and methylenetetrahydrofolate reductase [MTHFR] C677T gene polymorphism in angiographically documented coronary artery disease.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | G1691A | “Factor V G1691A, prothrombin G20210A, and methylenetetrahydrofolate reductase [MTHFR] C677T gene polymorphism in angiographically documented coronary artery disease.” | 0.82 | literature_variant_regex_v2 |