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21 records shown · first 60VDR polymorphisms and their influence on oral squamous cell carcinoma susceptibility: a systematic review.
PMID 41809121 | PMCID PMC12968140 | DOI 10.3389/froh.2026.1687857 · Frontiers in oral health · 2026 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs731236 | “Qualitative synthesis revealed consistent associations between polymorphisms in the VDR gene, particularly Fok1 (rs2228570), TaqI (rs731236), and ApaI (rs7975232), and in the CYP24A1 (rs2296241) gene, which encodes a VDR-regulated enzyme involved in the catabolism of active vitamin D metabolites.” | 0.90 | hgvs_regex_v1 |
| gene | VDR | “VDR polymorphisms and their influence on oral squamous cell carcinoma susceptibility: a systematic review.” | 0.98 | hgnc_dict_v1 |
| gene | CYP24A1 | “Qualitative synthesis revealed consistent associations between polymorphisms in the VDR gene, particularly Fok1 (rs2228570), TaqI (rs731236), and ApaI (rs7975232), and in the CYP24A1 (rs2296241) gene, which encodes a VDR-regulated enzyme involved in the catabolism of active vitamin D metabolites.” | 0.98 | hgnc_dict_v1 |
| variant | rs2228570 | “Qualitative synthesis revealed consistent associations between polymorphisms in the VDR gene, particularly Fok1 (rs2228570), TaqI (rs731236), and ApaI (rs7975232), and in the CYP24A1 (rs2296241) gene, which encodes a VDR-regulated enzyme involved in the catabolism of active vitamin D metabolites.” | 0.90 | hgvs_regex_v1 |
Genetic insights into hepatocellular carcinoma: the role of VDR FokI (rs2228570) and TaqI (rs731236) polymorphisms in Egyptian patients.
PMID 41668036 | PMCID PMC12998322 | DOI 10.1186/s12920-026-02322-9 · BMC medical genomics · 2026 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs731236 | “Genetic insights into hepatocellular carcinoma: the role of VDR FokI (rs2228570) and TaqI (rs731236) polymorphisms in Egyptian patients.” | 0.90 | hgvs_regex_v1 |
| gene | VDR | “Genetic insights into hepatocellular carcinoma: the role of VDR FokI (rs2228570) and TaqI (rs731236) polymorphisms in Egyptian patients.” | 0.98 | hgnc_dict_v1 |
| phenotype | hepatocellular carcinoma | “Genetic insights into hepatocellular carcinoma: the role of VDR FokI (rs2228570) and TaqI (rs731236) polymorphisms in Egyptian patients.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | rs2228570 | “Genetic insights into hepatocellular carcinoma: the role of VDR FokI (rs2228570) and TaqI (rs731236) polymorphisms in Egyptian patients.” | 0.90 | hgvs_regex_v1 |
Dysregulation and gene polymorphisms of Vitamin D receptor: its implications in lipid metabolic disorders.
PMID 40549261 | DOI 10.1007/s11033-025-10725-7 · Molecular biology reports · 2025 · 11 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs731236 | “The genetic variants in the VDR gene, particularly ApaI (rs7975232), BsmI (rs1544410), FokI (rs2228570) and TaqI (rs731236), play a significant role in regulating lipid homeostasis.” | 0.90 | hgvs_regex_v1 |
| phenotype | inflammatory bowel disease | “VDR gene polymorphisms are associated with several disease conditions such as inflammatory bowel disease, multiple sclerosis, pulmonary tuberculosis, asthma and gestational diabetes mellitus, in addition to lipid metabolic disorders.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | multiple sclerosis | “VDR gene polymorphisms are associated with several disease conditions such as inflammatory bowel disease, multiple sclerosis, pulmonary tuberculosis, asthma and gestational diabetes mellitus, in addition to lipid metabolic disorders.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | asthma | “VDR gene polymorphisms are associated with several disease conditions such as inflammatory bowel disease, multiple sclerosis, pulmonary tuberculosis, asthma and gestational diabetes mellitus, in addition to lipid metabolic disorders.” | 0.98 | phenotype_alias_lexicon_v2 |
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 | rs731236 | “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 |
Impact of Vitamin D Supplementation on the Clinical Outcomes and Epigenetic Markers in Patients with Acute Coronary Syndrome.
PMID 37259407 | PMCID PMC9967129 | DOI 10.3390/ph16020262 · Pharmaceuticals (Basel, Switzerland) · 2023 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs731236 | “It also looks at the incidence of vitamin D receptor (VDR) gene polymorphisms Apa I (rs7975232), Bsm I (rs1544410), Taq I (rs731236), and Fok I (rs2228570) and its association with the development of secondary major acute cardiovascular events (MACE) and heart failure (HF).” | 0.90 | hgvs_regex_v1 |
| gene | VDR | “It also looks at the incidence of vitamin D receptor (VDR) gene polymorphisms Apa I (rs7975232), Bsm I (rs1544410), Taq I (rs731236), and Fok I (rs2228570) and its association with the development of secondary major acute cardiovascular events (MACE) and heart failure (HF).” | 0.98 | hgnc_dict_v1 |
| gene | MEG3 | “In addition, vitamin D treatment was linked to a significant decline in the levels of noncoding RNA, such as mir361, lncRNA MEG3, and lncRNA Chaer (p = 2.9 × 10-4, 2.2 × 10-6, and 1.2 × 10-5, respectively).” | 0.98 | hgnc_dict_v1 |
| variant | rs7975232 | “It also looks at the incidence of vitamin D receptor (VDR) gene polymorphisms Apa I (rs7975232), Bsm I (rs1544410), Taq I (rs731236), and Fok I (rs2228570) and its association with the development of secondary major acute cardiovascular events (MACE) and heart failure (HF).” | 0.90 | hgvs_regex_v1 |
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 | rs731236 | “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 |
Hormonal and genetic risk factors for breast cancer in a subset of the Karachi population.
PMID 35983446 | PMCID PMC9356353 | DOI 10.1016/j.jtumed.2021.12.006 · Journal of Taibah University Medical Sciences · 2022 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs731236 | “The objective of our research is to evaluate the T to C base shift within TaqI (rs731236) in exon 9 and the A to G transition within Bsm1 (rs1544410) in intron 8 of the VDR gene as risk factors among BC patients.” | 0.90 | hgvs_regex_v1 |
| gene | VDR | “OBJECTIVE: Appraisement of vitamin D receptor (VDR) polymorphisms is thought to be crucial to detect and make approaches targeting groups at risk for breast cancer (BC).” | 0.98 | hgnc_dict_v1 |
| phenotype | breast cancer | “Hormonal and genetic risk factors for breast cancer in a subset of the Karachi population.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | rs1544410 | “The objective of our research is to evaluate the T to C base shift within TaqI (rs731236) in exon 9 and the A to G transition within Bsm1 (rs1544410) in intron 8 of the VDR gene as risk factors among BC patients.” | 0.90 | hgvs_regex_v1 |
Vitamin D Receptor Gene Variants Susceptible to Osteoporosis in Arab Post-Menopausal Women.
PMID 34698098 | PMCID PMC8929051 | DOI 10.3390/cimb43030094 · Current issues in molecular biology · 2021 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs731236 | “In total, 600 Saudi postmenopausal women (N = 300 osteoporosis; N = 300 control) were genotyped for VDR gene variants (rs7975232, rs1544410, rs731236) using TaqMan® SNP genotyping assays.” | 0.90 | hgvs_regex_v1 |
| gene | VDR | “Various vitamin D receptor (VDR) gene variants have been studied and associated with osteoporosis in other populations, but not in a homogenous Arab ethnic group.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “Herein, the current study explores the association between VDR polymorphisms and susceptibility to osteoporosis in Saudi postmenopausal women. In total, 600 Saudi postmenopausal women (N = 300 osteoporosis; N = 300 control) were genotyped for VDR gene variants (rs7975232, rs1544410, rs731236) using TaqMan® SNP genotyping assays. In conclusion, VDR gene variants rs7975232, rs1544410, rs731236 had a significant effect on BMD and were associated with osteoporosis risk in Saudi postmenopausal women.” | 0.95 | saudi_context_rules_v1 |
| variant | rs7975232 | “In total, 600 Saudi postmenopausal women (N = 300 osteoporosis; N = 300 control) were genotyped for VDR gene variants (rs7975232, rs1544410, rs731236) using TaqMan® SNP genotyping assays.” | 0.90 | hgvs_regex_v1 |
Association of vitamin D receptor gene polymorphisms with type 2 diabetes mellitus in Taif population: a case-control study.
PMID 34932627 | DOI 10.1590/1519-6984.250739 · Brazilian journal of biology = Revista brasleira de biologia · 2021 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs731236 | “The aim of this study is to investigate the possible association of two identified mutations ApaI (rs7975232) and TaqI (rs731236).” | 0.90 | hgvs_regex_v1 |
| phenotype | diabetes mellitus | “Association of vitamin D receptor gene polymorphisms with type 2 diabetes mellitus in Taif population: a case-control study.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | rheumatoid arthritis | “Vitamin D receptor polymorphisms are associated with different diseases such as rheumatoid arthritis and diabetes.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | rs7975232 | “The aim of this study is to investigate the possible association of two identified mutations ApaI (rs7975232) and TaqI (rs731236).” | 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 | rs731236 | “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 | rs731236 | “RESULTS: For the ApaI single-nucleotide polymorphism (SNP) (rs7975232), only the heterozygous (Aa) genotype increased the risk of CRC (OR = 3.4, RR = 2.3, and P < 0.0001), whereas the TaqI SNP (rs731236) carriers with either the heterozygous (Tt) or homozygous (tt) genotype displayed an increased risk for the disease (OR = 6.18, RR = 4, P < 0.0001; OR = 3, RR = 2.4, P = 0.02, respectively).” | 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 |
Genetic influence of vitamin D receptor gene polymorphisms on osteoporosis risk.
PMID 32694969 | PMCID PMC7346971 · International journal of health sciences · 2020 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs731236 | “Therefore, this study aimed to determine the association of VDR gene polymorphisms TaqI (rs731236) and ApaI (rs7975232) with osteoporosis risk in the Saudi population.” | 0.90 | hgvs_regex_v1 |
| gene | VDR | “It has been reported that mutations in the vitamin D receptor (VDR) gene highly affect the metabolism of minerals, which reduces bone density.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia, Jeddah | “Therefore, this study aimed to determine the association of VDR gene polymorphisms TaqI (rs731236) and ApaI (rs7975232) with osteoporosis risk in the Saudi population. METHODS: This case-control study involved 73 individuals with osteoporosis and 73 healthy controls in Jeddah, KSA. CONCLUSION: VDR polymorphisms ApaI and TaqI were found to be significantly determinant risk factors for osteoporosis progression in the Saudi population.” | 0.95 | saudi_context_rules_v1 |
| variant | rs7975232 | “Therefore, this study aimed to determine the association of VDR gene polymorphisms TaqI (rs731236) and ApaI (rs7975232) with osteoporosis risk in the Saudi population.” | 0.90 | hgvs_regex_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 | rs731236 | “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 |
| 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 | 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 |
| 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 | 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 |
Associations among two vitamin D receptor (VDR) gene polymorphisms (ApaI and TaqI) in acne vulgaris: A pilot susceptibility study.
PMID 30220112 | DOI 10.1111/jocd.12781 · Journal of cosmetic dermatology · 2019 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs731236 | “Two adjacent single nucleotide polymorphisms of VDR, ApaI (rs7975232) and TaqI (rs731236), were commonly studied.” | 0.90 | hgvs_regex_v1 |
| gene | VDR | “Associations among two vitamin D receptor (VDR) gene polymorphisms (ApaI and TaqI) in acne vulgaris: A pilot susceptibility study.” | 0.98 | hgnc_dict_v1 |
| variant | rs7975232 | “Two adjacent single nucleotide polymorphisms of VDR, ApaI (rs7975232) and TaqI (rs731236), were commonly studied.” | 0.90 | hgvs_regex_v1 |
Association of vitamin D receptor TaqI and ApaI genetic polymorphisms with nephrolithiasis and end stage renal disease: a meta-analysis.
PMID 31822280 | PMCID PMC6902508 | DOI 10.1186/s12881-019-0932-6 · BMC medical genetics · 2019 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs731236 | “The TaqI (rs731236) and ApaI (rs7975232) polymorphisms of VDR gene are widely studied for their association with renal disease risk.” | 0.90 | hgvs_regex_v1 |
| gene | VDR | “BACKGROUND: The deficiency of vitamin D receptor (VDR) or its ligand, vitamin D3, is linked to the development of renal diseases.” | 0.98 | hgnc_dict_v1 |
| variant | rs7975232 | “The TaqI (rs731236) and ApaI (rs7975232) polymorphisms of VDR gene are widely studied for their association with renal disease risk.” | 0.90 | hgvs_regex_v1 |
Polymorphic Variations in VDR Gene in Saudi Women with and Without Polycystic Ovary Syndrome (PCOS) and Significant Influence of Seven Polymorphic Sites on Anthropometric and Hormonal Parameters.
PMID 30584400 | PMCID PMC6298478 | DOI 10.2478/jomb-2018-0007 · Journal of medical biochemistry · 2018 · 8 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs731236 | “Significant differences were ob served in the values of the studied parameters in rs11168276, rs11168266, rs3858733, rs121909790, rs11168265 and rs731236.” | 0.90 | hgvs_regex_v1 |
| gene | VDR | “Polymorphic Variations in VDR Gene in Saudi Women with and Without Polycystic Ovary Syndrome (PCOS) and Significant Influence of Seven Polymorphic Sites on Anthropometric and Hormonal Parameters.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “Polymorphic Variations in VDR Gene in Saudi Women with and Without Polycystic Ovary Syndrome (PCOS) and Significant Influence of Seven Polymorphic Sites on Anthropometric and Hormonal Parameters. BACKGROUND: This study was designed to evaluate the associations between vitamin D receptor (VDR) gene polymorphisms and biochemical characteristics of Saudi women with polycystic ovary syndrome (PCOS). METHODS: Serum levels of LH, FSH, and Vitamin D were measured in 33 women: 16 patients and 17 normal controls (18 to 36 years). CONCLUSION: Vitamin D deficiency does not associate with PCOS in Saudi females.” | 0.95 | saudi_context_rules_v1 |
| variant | rs11168276 | “Significant differences were ob served in the values of the studied parameters in rs11168276, rs11168266, rs3858733, rs121909790, rs11168265 and rs731236.” | 0.90 | hgvs_regex_v1 |
Association analysis between four vitamin D receptor gene polymorphisms and developmental dysplasia of the hip.
PMID 30262704 · Journal of genetics · 2018 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs731236 | “In this study, the association of four single-nucleotide polymorphisms (SNPs) (rs731236, rs1544410, rs7975232 and rs2228570) in the vitamin D receptor (VDR) gene was studied by a case-control analysis.” | 0.90 | hgvs_regex_v1 |
| gene | VDR | “In this study, the association of four single-nucleotide polymorphisms (SNPs) (rs731236, rs1544410, rs7975232 and rs2228570) in the vitamin D receptor (VDR) gene was studied by a case-control analysis.” | 0.98 | hgnc_dict_v1 |
| variant | rs1544410 | “In this study, the association of four single-nucleotide polymorphisms (SNPs) (rs731236, rs1544410, rs7975232 and rs2228570) in the vitamin D receptor (VDR) gene was studied by a case-control analysis.” | 0.90 | hgvs_regex_v1 |
| variant | rs7975232 | “In this study, the association of four single-nucleotide polymorphisms (SNPs) (rs731236, rs1544410, rs7975232 and rs2228570) in the vitamin D receptor (VDR) gene was studied by a case-control analysis.” | 0.90 | hgvs_regex_v1 |
Maternal VDR variants rather than 25-hydroxyvitamin D concentration during early pregnancy are associated with type 1 diabetes in the offspring.
PMID 26109216 | DOI 10.1007/s00125-015-3675-8 · Diabetologia · 2015 · 8 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs731236 | “SNPs in VDR had different genotype distributions between the case and control mothers (rs1544410, p = 0.007; rs731236, p = 0.003; rs4516035, p = 0.015), two SNPs (rs1544410 and rs731236) remaining significant after correction for multiple testing using a false discovery rate.” | 0.90 | hgvs_regex_v1 |
| gene | VDR | “Maternal VDR variants rather than 25-hydroxyvitamin D concentration during early pregnancy are associated with type 1 diabetes in the offspring.” | 0.98 | hgnc_dict_v1 |
| gene | NADSYN1 | “RESULTS: The genotype distributions of 13 SNPs (in the following genes: 7-dehydrocholesterol reductase NADSYN1/DHCR7, vitamin D receptor VDR, group-specific component GC and CYP27A1) that showed a nominal association with 25-hydroxyvitamin D concentration (p < 0.05) were compared between case and control families.” | 0.98 | hgnc_dict_v1 |
| gene | DHCR7 | “RESULTS: The genotype distributions of 13 SNPs (in the following genes: 7-dehydrocholesterol reductase NADSYN1/DHCR7, vitamin D receptor VDR, group-specific component GC and CYP27A1) that showed a nominal association with 25-hydroxyvitamin D concentration (p < 0.05) were compared between case and control families.” | 0.98 | hgnc_dict_v1 |
Vitamin D receptor gene polymorphisms are associated with obesity and inflammosome activity.
PMID 25020064 | PMCID PMC4096505 | DOI 10.1371/journal.pone.0102141 · PloS one · 2014 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs731236 | “Results showed that the VDR SNPs rs731236 (G) (TaqI) and rs1544410 (T) (Bsm-I) minor allele polymorphisms are significantly more frequent in obese individuals (p = 0.009, β = 0.086 and p = 0.028, β = 0.072, respectively).” | 0.90 | hgvs_regex_v1 |
| gene | VDR | “To explore the mechanisms underlying the suggested role of the vitamin D/vitamin D receptor (VDR) complex in the pathogenesis of obesity we performed genetic and immunologic analyses in obese and non-obese Saudi individuals without other concomitant chronic diseases.” | 0.98 | hgnc_dict_v1 |
| phenotype | obesity | “Vitamin D receptor gene polymorphisms are associated with obesity and inflammosome activity.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “To explore the mechanisms underlying the suggested role of the vitamin D/vitamin D receptor (VDR) complex in the pathogenesis of obesity we performed genetic and immunologic analyses in obese and non-obese Saudi individuals without other concomitant chronic diseases.” | 0.95 | saudi_context_rules_v1 |
Vitamin D receptor gene polymorphisms and HLA DRB1*04 cosegregation in Saudi type 2 diabetes patients.
PMID 22219324 | DOI 10.4049/jimmunol.1101954 · Journal of immunology (Baltimore, Md. : 1950) · 2012 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs731236 | “Results showed T2DM to be significantly associated with the VDR Taq1 (rs731236-AG) and Bsm-I (rs1544410-CT) genotypes, and the VDR rs1544410-T allele.” | 0.90 | hgvs_regex_v1 |
| gene | VDR | “The vitamin D receptor (VDR) gene has been involved in the modulation of susceptibility to inflammatory and autoimmune conditions, and could play a role in the pathogenesis of type 2 diabetes mellitus (T2DM).” | 0.98 | hgnc_dict_v1 |
| phenotype | diabetes mellitus | “Vitamin D receptor gene polymorphisms and HLA DRB1*04 cosegregation in Saudi type 2 diabetes patients.” | 0.93 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia, Riyadh | “Vitamin D receptor gene polymorphisms and HLA DRB1*04 cosegregation in Saudi type 2 diabetes patients. We evaluated possible correlations between VDR polymorphisms, HLA alleles, and risk for development of T2DM by analyzing 627 individuals (368 T2DM patients and 259 healthy control subjects) part of a well-characterized cohort followed in Riyadh, Kingdom of Saudi Arabia.” | 0.95 | saudi_context_rules_v1 |