Advanced search
Combine gene, variant, phenotype, region and year filters
Every result shows the extracted entities next to the sentences that support them; rows for the searched entities come first.
Transparent by designEvery result links extracted entities to its source sentence and publication identifier.
Knowledge-base search
Publications
9 records shown · first 60Association of VDR gene variant rs2228570-FokI with gestational diabetes mellitus susceptibility in Arab women.
PMID 38882352 | PMCID PMC11177144 | DOI 10.1016/j.heliyon.2024.e32048 · Heliyon · 2024 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs2228570 | “Association of VDR gene variant rs2228570-FokI with gestational diabetes mellitus susceptibility in Arab women.” | 0.90 | hgvs_regex_v1 |
| gene | VDR | “Association of VDR gene variant rs2228570-FokI with gestational diabetes mellitus susceptibility in Arab women.” | 0.98 | hgnc_dict_v1 |
| phenotype | diabetes mellitus | “Association of VDR gene variant rs2228570-FokI with gestational diabetes mellitus susceptibility in Arab women.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “A total of 368 pregnant Saudi women who were screened for GDM at 24-28 weeks of gestation and genotyped for the VDR gene variant (rs2228570) were included in this cross-sectional study. Among pregnant Saudi women, glycemic indices appear to be influenced by vitamin D, suggesting a possible role it may play in mitigating the metabolic changes associated with GDM, particularly among individuals with specific genetic backgrounds.” | 0.95 | saudi_context_rules_v1 |
Use of whole exome sequencing for identification of genetic variants related to Growth Hormone Deficiency and Short Stature: A Family-Based Study.
PMID 37680843 | PMCID PMC10480707 | DOI 10.12669/pjms.39.5.7601 · Pakistan journal of medical sciences · 2023 · 17 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs2228570 | “A start loss variant in VDR (rs2228570) with high impact was also observed.” | 0.90 | hgvs_regex_v1 |
| gene | RNPC3 | “RESULTS: Several variants in RNPC3, ACAN, GC, VDR and LRP2 were identified in index cases but not in controls.” | 0.98 | hgnc_dict_v1 |
| gene | ACAN | “RESULTS: Several variants in RNPC3, ACAN, GC, VDR and LRP2 were identified in index cases but not in controls.” | 0.98 | hgnc_dict_v1 |
| gene | VDR | “RESULTS: Several variants in RNPC3, ACAN, GC, VDR and LRP2 were identified in index cases but not in controls.” | 0.98 | hgnc_dict_v1 |
Relevance of Serum Levels and Functional Genetic Variants in Vitamin D Receptor Gene among Saudi Women with Gestational Diabetes Mellitus.
PMID 37836571 | PMCID PMC10574375 | DOI 10.3390/nu15194288 · Nutrients · 2023 · 8 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs2228570 | “The polymerase chain reaction (PCR) was performed for the ApaI (rs79785232), BsmI (rs1544410), FokI (rs2228570), and TaqI (rs731236) SNPs in the VDR gene using restriction fragment length polymorphism analysis.” | 0.90 | hgvs_regex_v1 |
| gene | VDR | “Background: This study explored the association between ApaI-TaqI Single Nucleotide Polymorphisms (SNPs) in a Vitamin D receptor (VDR) and the risk of Gestational Diabetes Mellitus (GDM) in Saudi women, along with the serum levels of vitamin D.” | 0.98 | hgnc_dict_v1 |
| phenotype | diabetes mellitus | “Relevance of Serum Levels and Functional Genetic Variants in Vitamin D Receptor Gene among Saudi Women with Gestational Diabetes Mellitus.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | obesity | “Vitamin D levels were associated with deficient levels (p = 0.0002), as well as with a normal and overweight body mass index (p = 0.0004).” | 0.93 | phenotype_alias_lexicon_v2 |
Association of genetic variants of the vitamin D receptor gene with vitiligo in a tertiary care center in a Saudi population: a case-control study.
PMID 35380061 | PMCID PMC8982003 | DOI 10.5144/0256-4947.2022.96 · Annals of Saudi medicine · 2022 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs2228570 | “The strongest linkage disequilibrium was observed between rs79785232 (ApaI) and rs731236 (TaqI) polymorphisms (r2=.83), followed by rs2228570 (FokI) and rs1544410 (BsmI) polymorphisms (r2=.53).” | 0.90 | hgvs_regex_v1 |
| gene | VDR | “Meta-analyses have documented a linkage between vitiligo and the vitamin D receptor (VDR) gene.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “Association of genetic variants of the vitamin D receptor gene with vitiligo in a tertiary care center in a Saudi population: a case-control study. OBJECTIVE: Investigate the relationship between the ApaI, BsmI, FokI and TaqI genetic variants in the VDR gene with vitiligo in a Saudi population. PATIENT AND METHODS: The case-control study was carried out between January 2015-December 2015 in Saudi vitiligo patients and healthy controls.” | 0.95 | saudi_context_rules_v1 |
| variant | rs79785232 | “The strongest linkage disequilibrium was observed between rs79785232 (ApaI) and rs731236 (TaqI) polymorphisms (r2=.83), followed by rs2228570 (FokI) and rs1544410 (BsmI) polymorphisms (r2=.53).” | 0.90 | hgvs_regex_v1 |
Protective Association of Single Nucleotide Polymorphisms rs1861868-FTO and rs7975232-VDR and Obesity in Saudi Females.
PMID 32547165 | PMCID PMC7266403 | DOI 10.2147/IJGM.S251466 · International journal of general medicine · 2020 · 22 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs2228570 | “Twelve SNPs of different genes that showed a correlation with obesity in different population were tested, namely GNPDA2 (rs10938397), TCF7L2 (rs10885409), FTO (rs1477196), ADIPOQ (rs1501299), MC4R (rs17782313), ABCA1 (rs1800977), FTO (rs1861868), VDR (rs2228570), VDR (rs731236), VDR (rs7975232), ADIPOQ (rs266729), and PFPK (rs6602024).” | 0.90 | hgvs_regex_v1 |
| gene | GNPDA2 | “Twelve SNPs of different genes that showed a correlation with obesity in different population were tested, namely GNPDA2 (rs10938397), TCF7L2 (rs10885409), FTO (rs1477196), ADIPOQ (rs1501299), MC4R (rs17782313), ABCA1 (rs1800977), FTO (rs1861868), VDR (rs2228570), VDR (rs731236), VDR (rs7975232), ADIPOQ (rs266729), and PFPK (rs6602024).” | 0.98 | hgnc_dict_v1 |
| gene | TCF7L2 | “Twelve SNPs of different genes that showed a correlation with obesity in different population were tested, namely GNPDA2 (rs10938397), TCF7L2 (rs10885409), FTO (rs1477196), ADIPOQ (rs1501299), MC4R (rs17782313), ABCA1 (rs1800977), FTO (rs1861868), VDR (rs2228570), VDR (rs731236), VDR (rs7975232), ADIPOQ (rs266729), and PFPK (rs6602024).” | 0.98 | hgnc_dict_v1 |
| gene | FTO | “Twelve SNPs of different genes that showed a correlation with obesity in different population were tested, namely GNPDA2 (rs10938397), TCF7L2 (rs10885409), FTO (rs1477196), ADIPOQ (rs1501299), MC4R (rs17782313), ABCA1 (rs1800977), FTO (rs1861868), VDR (rs2228570), VDR (rs731236), VDR (rs7975232), ADIPOQ (rs266729), and PFPK (rs6602024).” | 0.98 | hgnc_dict_v1 |
TaqI and ApaI Variants of Vitamin D Receptor Gene Increase the Risk of Colorectal Cancer in a Saudi Population.
PMID 32952510 | PMCID PMC7485662 | DOI 10.4103/sjmms.sjmms_357_19 · Saudi journal of medicine & medical sciences · 2020 · 7 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs2228570 | “Finally, for the FokI SNP (rs2228570), there was no association with CRC risk.” | 0.90 | hgvs_regex_v1 |
| gene | VDR | “BACKGROUND: Polymorphisms in the gene encoding the vitamin D receptor (VDR) affect the protective role of vitamin D against many types of cancers, including colorectal cancer (CRC).” | 0.98 | hgnc_dict_v1 |
| phenotype | colorectal cancer | “TaqI and ApaI Variants of Vitamin D Receptor Gene Increase the Risk of Colorectal Cancer in a Saudi Population.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia, Jeddah | “TaqI and ApaI Variants of Vitamin D Receptor Gene Increase the Risk of Colorectal Cancer in a Saudi Population. OBJECTIVE: The objective of this study was to assess the effect of four major polymorphisms of the VDR gene (ApaI, TaqI, BsmI and FokI) on the risk of CRC in a Saudi population. MATERIALS AND METHODS: This case-control study recruited 132 CRC patients from the oncology clinics at King Abdulaziz University Hospital and 124 healthy controls from the blood bank at King Fahad General Hospital, Jeddah, Saudi Arabia, between September 2017 and August 2018. CONCLUSION: This study found that VDR SNPs ApaI and TaqI increase the risk of CRC, whereas BsmI reduces the risk of CRC in the selected Saudi population.” | 0.95 | saudi_context_rules_v1 |
Relationship between Serum Vitamin D and Calcium Levels and Vitamin D Receptor Gene Polymorphisms in Colorectal Cancer.
PMID 31534963 | PMCID PMC6732607 | DOI 10.1155/2019/8571541 · BioMed research international · 2019 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs2228570 | “In contrast, the BsmI and FokI VDR polymorphisms (rs1544410 and rs2228570, resp.) did not affect the serum levels of total vitamin D, 25-hydroxyvitamin D3, and calcium.” | 0.90 | hgvs_regex_v1 |
| phenotype | colorectal cancer | “Relationship between Serum Vitamin D and Calcium Levels and Vitamin D Receptor Gene Polymorphisms in Colorectal Cancer.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “METHODS: Fifty Saudi CRC patients and fifty controls were enrolled in the study.” | 0.95 | saudi_context_rules_v1 |
| variant | rs7975232 | “RESULTS: The homozygous genotype (aa) of the ApaI VDR polymorphism (rs7975232) was found to correlate with total serum vitamin D levels of CRC patients, while the heterozygous (Tt) TaqI VDR polymorphism (rs731236) was associated with serum calcium levels.” | 0.90 | hgvs_regex_v1 |
Association of Vitamin D Gene Polymorphisms and Bone Mineral Density in Healthy young Saudi Females.
PMID 30963970 | DOI 10.2174/1566524019666190409122155 · Current molecular medicine · 2019 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs2228570 | “After receiving informed consent, blood samples from 300 subjects were collected to measure calcium, phosphorus, alkaline phosphatase, parathyroid hormone osteocalcin, and 1,25-OHD and perform genetic analysis of SNPs in vitamin D receptors (VDR) rs2228570, rs731236, and rs11568820.” | 0.90 | hgvs_regex_v1 |
| gene | VDR | “After receiving informed consent, blood samples from 300 subjects were collected to measure calcium, phosphorus, alkaline phosphatase, parathyroid hormone osteocalcin, and 1,25-OHD and perform genetic analysis of SNPs in vitamin D receptors (VDR) rs2228570, rs731236, and rs11568820.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia, Madinah | “Association of Vitamin D Gene Polymorphisms and Bone Mineral Density in Healthy young Saudi Females. OBJECTIVES: To determine the association between Vitamin D receptor gene polymorphisms and bone density, as well as its relation to biochemical markers of bone turnover, in a healthy Saudi female population. METHODS: A cross-sectional study was carried out at Taibah University, Madinah Region, Kingdom of Saudi Arabia. After receiving informed consent, blood samples from 300 subjects were collected to measure calcium, phosphorus, alkaline phosphatase, parathyroid hormone osteocalcin, and 1,25-OHD and perform genetic analysis of SNPs in vitamin D receptors (VDR) rs2228570, rs731236, and rs11568820.” | 0.95 | saudi_context_rules_v1 |
| variant | rs731236 | “After receiving informed consent, blood samples from 300 subjects were collected to measure calcium, phosphorus, alkaline phosphatase, parathyroid hormone osteocalcin, and 1,25-OHD and perform genetic analysis of SNPs in vitamin D receptors (VDR) rs2228570, rs731236, and rs11568820.” | 0.90 | hgvs_regex_v1 |
Genetic influence on circulating vitamin D among Saudi Arabians.
PMID 27570856 | PMCID PMC5039620 | DOI 10.15537/smj.2016.9.14700 · Saudi medical journal · 2016 · 9 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs2228570 | “After informed consent, blood samples from 283 subjects living in the Eastern province were collected for 25-OHD measurement and genetic analysis of SNPs in vitamin D receptor (VDR) [rs2228570 and rs1544410], Cytochrome, P450 family 2 (CYP2R1) [rs10741657 and rs1993116], and Group-specific components (GC) [rs2282679 and rs4588].” | 0.90 | hgvs_regex_v1 |
| gene | VDR | “After informed consent, blood samples from 283 subjects living in the Eastern province were collected for 25-OHD measurement and genetic analysis of SNPs in vitamin D receptor (VDR) [rs2228570 and rs1544410], Cytochrome, P450 family 2 (CYP2R1) [rs10741657 and rs1993116], and Group-specific components (GC) [rs2282679 and rs4588].” | 0.98 | hgnc_dict_v1 |
| gene | CYP2R1 | “After informed consent, blood samples from 283 subjects living in the Eastern province were collected for 25-OHD measurement and genetic analysis of SNPs in vitamin D receptor (VDR) [rs2228570 and rs1544410], Cytochrome, P450 family 2 (CYP2R1) [rs10741657 and rs1993116], and Group-specific components (GC) [rs2282679 and rs4588].” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia, Eastern Province | “Genetic influence on circulating vitamin D among Saudi Arabians. OBJECTIVES: To examine the effect of most common studied single nucleotide polymorphisms (SNP) on serum 25-hydroxyvitamin D (25OHD) levels in Saudi Arabian population. METHOD: A cross-sectional observational study was carried out between July 2014 and October 2015, at King Fahd Hospital of the University (KFHU), Al-Khobar, Kingdom of Saudi Arabia. After informed consent, blood samples from 283 subjects living in the Eastern province were collected for 25-OHD measurement and genetic analysis of SNPs in vitamin D receptor (VDR) [rs2228570 and rs1544410], Cytochrome, P450 family 2 (CYP2R1) [rs10741657 and rs1993116], and Group-specific components (GC) [rs2282679 and rs4588].” | 0.95 | saudi_context_rules_v1 |