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6 records shown · first 60Common Variants rs429358 and rs7412 in APOE Gene Are Not Associated with POAG in a Saudi Cohort.
PMID 38275738 | PMCID PMC10813158 | DOI 10.3390/biology13010062 · Biology · 2024 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs429358 | “Common Variants rs429358 and rs7412 in APOE Gene Are Not Associated with POAG in a Saudi Cohort.” | 0.90 | hgvs_regex_v1 |
| gene | APOE | “Common Variants rs429358 and rs7412 in APOE Gene Are Not Associated with POAG in a Saudi Cohort.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “Common Variants rs429358 and rs7412 in APOE Gene Are Not Associated with POAG in a Saudi Cohort. Adult-onset glaucoma, an age-related neurodegenerative disease, is very prevalent among the elderly Arabs of Saudi origin. This study investigated the association between apolipoprotein E (APOE) gene variants (rs429358 and rs7412) and primary open-angle glaucoma (POAG) in Arabs of Saudi origin. A case-control genetic association study involving 179 POAG patients and 251 controls utilized Sanger sequencing to genotype APOE gene variants. In conclusion, within the Saudi cohort, APOE variants (rs429358 and rs7412) do not appear to be associated with POAG and are not substantial risk factors for its development.” | 0.95 | saudi_context_rules_v1 |
| variant | rs7412 | “Common Variants rs429358 and rs7412 in APOE Gene Are Not Associated with POAG in a Saudi Cohort.” | 0.90 | hgvs_regex_v1 |
APOE ε2-Carriers Are Associated with an Increased Risk of Primary Angle-Closure Glaucoma in Patients of Saudi Origin.
PMID 38674156 | PMCID PMC11050284 | DOI 10.3390/ijms25084571 · International journal of molecular sciences · 2024 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs429358 | “This study investigated the association between apolipoprotein E (APOE) gene polymorphisms (rs429358 and rs7412) and primary angle-closure glaucoma (PACG) and pseudoexfoliation glaucoma (PXG) in a Saudi cohort.” | 0.90 | hgvs_regex_v1 |
| gene | APOE | “APOE ε2-Carriers Are Associated with an Increased Risk of Primary Angle-Closure Glaucoma in Patients of Saudi Origin.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “APOE ε2-Carriers Are Associated with an Increased Risk of Primary Angle-Closure Glaucoma in Patients of Saudi Origin. This study investigated the association between apolipoprotein E (APOE) gene polymorphisms (rs429358 and rs7412) and primary angle-closure glaucoma (PACG) and pseudoexfoliation glaucoma (PXG) in a Saudi cohort. Genotyping of 437 DNA samples (251 controls, 92 PACG, 94 PXG) was conducted using PCR-based Sanger sequencing. These findings suggest a potential role of ε2-carriers in PACG risk within the Saudi cohort.” | 0.95 | saudi_context_rules_v1 |
| variant | rs7412 | “This study investigated the association between apolipoprotein E (APOE) gene polymorphisms (rs429358 and rs7412) and primary angle-closure glaucoma (PACG) and pseudoexfoliation glaucoma (PXG) in a Saudi cohort.” | 0.90 | hgvs_regex_v1 |
Association between Polymorphism rs61876744 in PNPLA2 Gene and Keratoconus in a Saudi Cohort.
PMID 38136930 | PMCID PMC10742661 | DOI 10.3390/genes14122108 · Genes · 2023 · 9 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs429358 | “In addition, polymorphisms in the apolipoprotein E (APOE) gene, namely, rs429358 and rs7412, responsible for APOE allelic variants ε2, ε3, and ε4, may influence KC via oxidative stress mechanism(s).” | 0.90 | hgvs_regex_v1 |
| gene | PNPLA2 | “Association between Polymorphism rs61876744 in PNPLA2 Gene and Keratoconus in a Saudi Cohort.” | 0.98 | hgnc_dict_v1 |
| gene | CSNK1E | “A recent genome-wide study identified two significant loci in the region of PNPLA2 (rs61876744) and CSNK1E (rs138380) for KC that may be associated with KC in the Saudi population.” | 0.98 | hgnc_dict_v1 |
| gene | APOE | “In addition, polymorphisms in the apolipoprotein E (APOE) gene, namely, rs429358 and rs7412, responsible for APOE allelic variants ε2, ε3, and ε4, may influence KC via oxidative stress mechanism(s).” | 0.98 | hgnc_dict_v1 |
Association of Alzheimer's Disease with Genetic Variants of Apolipoprotein E, Clusterin, TNF-α, and IL-6 Among Elderly Saudis.
PMID 35135450 | DOI 10.2174/1389201023666220208093919 · Current pharmaceutical biotechnology · 2022 · 11 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs429358 | “METHODS: A total of 42 Saudi AD patients and 23 age-matched control participants were genotyped for eight SNPs: rs429358, rs7412 (ApoE); rs11136000, rs1532278 (CLU); rs1800629, rs1799724 (TNF-α) and rs1800796, rs1800795(IL-6), by RT-PCR using the TaqMan assay.” | 0.90 | hgvs_regex_v1 |
| gene | CLU | “OBJECTIVES: To investigate the association of Single Nucleotide Polymorphisms (SNPs) in apolipoprotein E (ApoE), clusterin (CLU), tumor necrotic factor- α (TNF-α) and interleukin-6 (IL-6) genes, with risk of Alzheimer's disease (AD) in Saudi Arabian participants.” | 0.98 | hgnc_dict_v1 |
| phenotype | Alzheimer disease | “Association of Alzheimer's Disease with Genetic Variants of Apolipoprotein E, Clusterin, TNF-α, and IL-6 Among Elderly Saudis.” | 0.93 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “OBJECTIVES: To investigate the association of Single Nucleotide Polymorphisms (SNPs) in apolipoprotein E (ApoE), clusterin (CLU), tumor necrotic factor- α (TNF-α) and interleukin-6 (IL-6) genes, with risk of Alzheimer's disease (AD) in Saudi Arabian participants. METHODS: A total of 42 Saudi AD patients and 23 age-matched control participants were genotyped for eight SNPs: rs429358, rs7412 (ApoE); rs11136000, rs1532278 (CLU); rs1800629, rs1799724 (TNF-α) and rs1800796, rs1800795(IL-6), by RT-PCR using the TaqMan assay. CONCLUSION: Genetic variants in ApoE and CLU may influence susceptibility to AD among Saudi Arabian participants.” | 0.95 | saudi_context_rules_v1 |
Role of Apolipoprotein E gene polymorphism in the risk of familial hypercholesterolemia: a case-control study.
PMID 30235358 | DOI 10.18388/abp.2017_2344 · Acta biochimica Polonica · 2018 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs429358 | “The current study aimed to investigate the genetic association between FH disease and ApoE gene polymorphisms (rs429358 and rs7412) in the Saudi population.” | 0.90 | hgvs_regex_v1 |
| phenotype | familial hypercholesterolemia | “Role of Apolipoprotein E gene polymorphism in the risk of familial hypercholesterolemia: a case-control study.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “The current study aimed to investigate the genetic association between FH disease and ApoE gene polymorphisms (rs429358 and rs7412) in the Saudi population. This case-control study was a hospital-based study performed in Saudi Arabia. In conclusion, the FH case-control study was associated with the E4 allele in the Saudi population.” | 0.95 | saudi_context_rules_v1 |
| variant | rs7412 | “The current study aimed to investigate the genetic association between FH disease and ApoE gene polymorphisms (rs429358 and rs7412) in the Saudi population.” | 0.90 | hgvs_regex_v1 |
Association of apolipoprotein E polymorphism with type 2 diabetes mellitus in a Saudi population.
PMID 24979464 | DOI 10.1089/dna.2014.2461 · DNA and cell biology · 2014 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs429358 | “Two common single-nucleotide polymorphisms, that is, rs429358 and rs7412, in the ApoE gene were genotyped by TaqMan assay in T2DM patients (n=438) and controls (n=460).” | 0.90 | hgvs_regex_v1 |
| phenotype | diabetes mellitus | “Association of apolipoprotein E polymorphism with type 2 diabetes mellitus in a Saudi population.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | obesity | “It is considered to be a major risk factor for obesity and cardiovascular diseases.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “Association of apolipoprotein E polymorphism with type 2 diabetes mellitus in a Saudi population. The aim of this contemporary study was to investigate the ApoE polymorphism in a Saudi population with T2DM subjects. The results of the present study indicate that ApoE polymorphism was significantly associated with T2DM in a Saudi population with the ɛ2 and ɛ4 alleles (p=0.0001). Further studies are carried out in a Saudi population with different diseases to confirm the risk allele. In conclusion, our study results suggest that ApoE variants constitute risk markers of T2DM in a Saudi population.” | 0.95 | saudi_context_rules_v1 |