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7 records shown · first 60Vitamin 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 |