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16 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 | rs7975232 | “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 |
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 | rs7975232 | “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 |
Association of vitamin D receptor gene polymorphisms ApaI (rs7975232) and BsmI (rs1544410) with hepatocellular carcinoma susceptibility in Egyptian patients.
PMID 41258623 | DOI 10.1007/s11033-025-11140-8 · Molecular biology reports · 2025 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs7975232 | “Association of vitamin D receptor gene polymorphisms ApaI (rs7975232) and BsmI (rs1544410) with hepatocellular carcinoma susceptibility in Egyptian patients.” | 0.90 | hgvs_regex_v1 |
| gene | VDR | “Polymorphisms in the vitamin D receptor (VDR) gene were found to be related to the emergence of tumors in various organs.” | 0.98 | hgnc_dict_v1 |
| phenotype | hepatocellular carcinoma | “Association of vitamin D receptor gene polymorphisms ApaI (rs7975232) and BsmI (rs1544410) with hepatocellular carcinoma susceptibility in Egyptian patients.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | rs1544410 | “Association of vitamin D receptor gene polymorphisms ApaI (rs7975232) and BsmI (rs1544410) with hepatocellular carcinoma susceptibility in Egyptian patients.” | 0.90 | hgvs_regex_v1 |
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 | 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 |
| 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 | rs1544410 | “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 Between Vitamin D Receptor Polymorphism and the Response to Helicobacter Pylori Treatment.
PMID 37449247 | PMCID PMC10337687 | DOI 10.2147/IDR.S414186 · Infection and drug resistance · 2023 · 2 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs7975232 | “In regards to the eradication of H. pylori and VDR rs7975232 gene polymorphisms, the success of eradication was more prevalent in AC gene polymorphism (54.4%) vs non-responders (30.4%), while all patients (14) with gene AA (17.7%) are responders to standard treatment, while the failure of treatment was more prevalent in CC gene polymorphism (69.2% in non-responder vs 27.8% in responders) which is statistically significant.” | 0.90 | hgvs_regex_v1 |
| gene | VDR | “PCR was used to genotype all patients' VDR gene polymorphisms.” | 0.98 | hgnc_dict_v1 |
Vitamin D Receptor Gene Polymorphism ApaI as a Predisposing Factor for Psoriasis and Its Relation With Serum Vitamin D Levels and Psoriasis Severity.
PMID 36686134 | PMCID PMC9849829 | DOI 10.7759/cureus.32715 · Cureus · 2022 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs7975232 | “We aimed to determine whether VDR gene polymorphisms, specifically rs7975232 (ApaI), afford psoriasis susceptibility in a given community in Saudi Arabia.” | 0.90 | hgvs_regex_v1 |
| gene | VDR | “Several types of vitamin D receptor (VDR) polymorphisms have been investigated as a predisposing factor for psoriasis susceptibility with controversial results.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “We aimed to determine whether VDR gene polymorphisms, specifically rs7975232 (ApaI), afford psoriasis susceptibility in a given community in Saudi Arabia. SUBJECTS AND METHODS: In a comparative case-control study comprising 53 psoriatic patients and 41 matched healthy controls, we measured serum ApaI levels, and the PCR-RFLEP technique detected ApaI genetic polymorphism (rs7975232) for both groups.” | 0.95 | saudi_context_rules_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 | 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 |
| 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 | rs1544410 | “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 | 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 |
| 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 | 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 |
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 | rs7975232 | “Protective Association of Single Nucleotide Polymorphisms rs1861868-FTO and rs7975232-VDR and Obesity in Saudi Females.” | 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 | rs7975232 | “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 | 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 |
| 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 | 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 |
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 | 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 |
| 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 | 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 |
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 | rs7975232 | “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 | rs731236 | “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 | 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 |
| 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 | 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 |
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 | 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 |
| 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 | 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 |
| 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 |
Vitamin D Receptor ApaI (rs7975232) Polymorphism Confers Decreased Risk of Pulmonary Tuberculosis in Overall and African Population, but not in Asians: Evidence from a Meta-analysis.
PMID 29066494 · Annals of clinical and laboratory science · 2017 · 3 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | rs7975232 | “Vitamin D Receptor ApaI (rs7975232) Polymorphism Confers Decreased Risk of Pulmonary Tuberculosis in Overall and African Population, but not in Asians: Evidence from a Meta-analysis.” | 0.90 | hgvs_regex_v1 |
| gene | VDR | “GOALS: The involvement of the VDR ApaI gene polymorphism in the development of pulmonary tuberculosis (PTB) has been reported by numerous published studies and yielded inconsistent results.” | 0.98 | hgnc_dict_v1 |
| phenotype | tuberculosis | “Vitamin D Receptor ApaI (rs7975232) Polymorphism Confers Decreased Risk of Pulmonary Tuberculosis in Overall and African Population, but not in Asians: Evidence from a Meta-analysis.” | 0.98 | phenotype_alias_lexicon_v2 |