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8 records shown · first 60Relevance 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 | rs1544410 | “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 | rs1544410 | “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 |
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 | 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 |
| 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 |
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 | rs1544410 | “In contrast, heterozygous (Bb) and homozygous (bb) carriers of the BsmI SNP (rs1544410) had significantly lower risk for CRC (P < 0.0001).” | 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 | rs1544410 | “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 |
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 | rs1544410 | “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 |
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 | rs1544410 | “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 | rs1544410 | “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 |