rs731236

This case-control study of 288 Spanish RLS patients and 325 controls examined vitamin D metabolism genes and serum vitamin D levels. Serum 25-hydroxyvitamin D levels were significantly higher in RLS patients (21.94 ng/mL vs 18.63 ng/mL, p=0.0002), but seven SNPs in VDR and GC genes showed no association with RLS risk. However, RLS patients carrying the rs7975232CC genotype had higher frequency of response to GABAergic drugs.

This is a Turkish-language personalized nutrigenetics and epigenetics coaching report for individual Mehmet Efe Yildirim (Report No. 1332, dated 2023-11-21). The report analyzes the individual's genetic polymorphisms related to nutritional metabolism, food sensitivities, detoxification pathways, and other health-related traits, providing personalized dietary and lifestyle recommendations based on cited scientific literature. This is a direct-to-consumer genetic test report, not a peer-reviewed research study.

This case-control association study investigated the relationship between VDR gene polymorphisms (rs7975232, rs2228570, rs731236, and rs1544410) and idiopathic hypocitraturia (IH) in 200 Chinese Bai patients and 120 controls. The study found that rs7975232 allele A and rs2228570 genotype TT were significantly associated with IH (p<0.0125 after Bonferroni correction). Haplotype TCGC was protective (OR=0.559, p=0.001) while haplotype TTGA was a risk factor (OR=1.929, p=0.006).

In 258 chronic hepatitis C patients treated with direct-acting antivirals, VDR FokI rs10735810 T>C SNP was significantly associated with hepatocellular carcinoma (HCC) presence (p=0.013), with all CC genotype carriers remaining HCC-free. Multivariate logistic regression identified age (OR 25.41), ribavirin administration, and IL28B rs12979860 CC genotype as HCC risk factors, while VDR FokI CC genotype was protective.

This randomized, double-blind, placebo-controlled trial examined associations between SNPs in calcium and vitamin D-related genes and bone biomarkers in 748 young military trainees. The study found that rs7041 (DBP gene) was associated with higher 25OHD (β=4.46, p=1.97E-10) and rs2228570 (VDR gene) was associated with lower P1NP (β=-4.83, p=0.04) and osteocalcin. A composite genetic risk score combining rs7041 and rs1544410 predicted differential responses to calcium and vitamin D supplementation during intensive military training.

A case-control study of 3,663 African American women with breast cancer and 4,687 controls from the AMBER consortium examined associations between vitamin D-related genetic variants and breast cancer risk. The study identified several variants in genes including CASR, ERCC6, DDB2, and REV1 associated with breast cancer risk overall and by estrogen receptor status. Notable findings include rs9308822 (REV1, OR=0.86, p=1.1×10⁻⁴) for overall breast cancer, rs114723899 (ERCC6, OR=0.62, p=4.3×10⁻⁵) for ER+ breast cancer, and rs112594756 (CASR, OR=1.27, p=7.3×10⁻⁵) associated with ER-negative disease.

This is a comprehensive literature review examining the relationship between vitamin D and Parkinson's disease. The review discusses evidence that vitamin D deficiency is more prevalent in PD patients than controls, discusses the pathophysiological mechanisms linking vitamin D to dopaminergic neuron protection, and reviews associations with VDR polymorphisms including FokI (rs10735810), BsmI (rs1544410), ApaI (rs7975232), and TaqI (rs731236). While some studies show vitamin D supplementation may slow disease progression, particularly in patients with FokI CT and TT genotypes, findings remain inconsistent.

This candidate gene association study examined 141 SNPs in 6 vitamin D metabolism genes (VDR, CYP27B1, CYP24A1, GC, LRP2, CUBN) in 1514 participants from the Cardiovascular Health Study, identifying VDR SNP rs7968585 as significantly modifying the association between low 25-hydroxyvitamin D concentration and composite outcomes (hip fracture, MI, cancer, mortality). Among CHS participants, low vitamin D was associated with hazard ratios of 1.40 (95% CI, 1.12-1.74) for 1 minor allele and 1.82 (95% CI, 1.31-2.54) for 2 minor alleles at rs7968585, versus no association (HR 0.93) in those with 0 minor alleles. Findings were replicated in independent meta-analyses of 3 additional cohorts (n=2727), with rs7968585 showing HRR of 1.22 (95% CI, 1.09-1.36) per additional minor allele.

Candidate gene association study of 67 genetic variants in 27 inflammation and DNA repair genes with hepatitis A virus (HAV) infection susceptibility in 6,779 NHANES III participants (2,619 non-Hispanic whites, 2,095 non-Hispanic blacks, 2,065 Mexican Americans). Among Mexican Americans, ABCB1 rs1045642 T allele was associated with lower HAV seropositivity risk (OR=0.79, p<0.001), while TGFB1 rs1800469 and XRCC1 rs1799782 T alleles were associated with increased risk (OR=1.38 and 1.57, respectively). CAT rs769214 and CYP2E1 rs2031920 showed marginal associations with decreased and increased HAV risk, respectively.

A population-based case-control study of 3,676 individuals from the Genes, Environment and Melanoma (GEM) Study examined 38 vitamin D receptor (VDR) gene polymorphisms in relation to cutaneous melanoma risk. The study found 8 SNPs with statistically significant associations with melanoma, including 6 SNPs investigated for the first time in relation to melanoma (OR range approximately 0.87-1.19), supporting the role of the vitamin D pathway in melanoma genesis.

A case-control study of 106 active calcium stone formers versus 109 controls found that the VDR start codon polymorphism rs2228570 (T→C, p.M1T) was significantly associated with calcium nephrolithiasis (p<0.001), with the C allele present in 74% of cases versus 47% of controls (OR 10.7-11.1). Two other VDR variants (rs731236 and NT-029419.12: g.10416049C→T) showed no association with stone disease.

This hospital-based case-control study tested eight vitamin D metabolism-related polymorphisms (rs1155563, rs7041, rs4646536, rs927650, rs2107301, rs7975232, rs757343, and rs731236) in 305 melanoma patients and 370 healthy controls. None of the eight SNPs showed significant associations with melanoma risk or melanoma prognosis (Breslow tumor thickness). All odds ratios ranged from 0.80–1.22 with 95% confidence intervals crossing 1.0 and p-values > 0.05.

A prospective cohort study of 615 pregnant women (477 non-Hispanic Black, 138 non-Hispanic White) examining maternal VDR genetic variation and infant birthweight. Among non-Hispanic Black women, 8 of 38 VDR SNPs showed nominal significance with birthweight, with rs7975232 surpassing multiple testing correction threshold (p=0.0009). No VDR SNPs were associated with birthweight in non-Hispanic White women. rs7975232 is part of a VDR haplotype associated with mRNA stability and variation in vitamin D levels.

A comprehensive review of nutrigenetics and nutrigenomics examining how genetic variants influence individual responses to nutrients and dietary interventions. The paper discusses associations between numerous SNPs (rs9939609 in FTO, rs2287019 in GIPR, rs7903146 in TCF7L2, rs5219 in KCNJ11, and many others) and metabolic traits including obesity, type 2 diabetes, and other chronic diseases, along with epigenetic mechanisms by which phytochemicals (curcumin, resveratrol, lycopene) modulate gene expression. The review synthesizes current evidence for precision nutrition approaches tailored to individual genetic profiles.

This prospective cohort study of 1,294 Caucasian prostate cancer cases with 8-year follow-up examined vitamin D pathway gene variants (VDR, CYP27B1, CYP24A1) using 48 tagging SNPs. Variants in VDR (rs6823, rs2071358, rs3782905, rs7299460, rs11168314) and CYP24A1 (rs927650, rs2762939, rs3787557, rs4809960, rs2296241, rs2585428, rs6022999) were associated with altered risks of prostate cancer recurrence/progression and/or prostate cancer-specific mortality. A panel of VDR and CYP24A1 SNPs improved prediction of 5-year recurrence/progression (sensitivity increased from 53.7% to 75.6% at 80% specificity) beyond clinical parameters alone.

A nested case-control study of 309 postmenopausal osteoporotic women and 293 controls found that the IL6 -634G>C SNP (rs1800796) was associated with osteoporosis (OR 2.51, p=0.0047), independent of smoking or statin use. Additionally, the LRP5 C135242T SNP (rs545382) showed association with osteoporosis specifically in cigarette smokers (OR 2.8, p=0.03), suggesting a gene-environment interaction.

A retrospective association study of 95 Brazilian multiple sclerosis (MS) patients examined HLA alleles and five SNPs (rs4774, rs3087456, rs6897932, rs731236, rs1033182) for associations with MRI lesion load. The HLA-DQA1*04:01 allele was significantly associated with higher lesion load on T2/FLAIR MRI sequences (p=0.02), with 71% of carriers showing above-median lesion load compared to 41% of non-carriers. No significant associations were found between the five SNPs and any MRI features studied.

Large Scottish case-control study (SOCCS) of 2,070 colorectal cancer cases and 2,793 controls examined associations between VDR variants, vitamin D and calcium intake, and colorectal cancer risk. Inverse dose-dependent associations were found between CRC and dietary vitamin D intake (OR=0.77, 95% CI 0.63-0.92, p-trend=0.012) and total vitamin D intake (OR=0.80, 95% CI 0.65-0.98, p-trend=0.014). Statistically significant gene-environment interactions were observed between FokI (rs10735810) and vitamin D intake (p=0.02) and calcium intake (p=0.006), supporting a chemoprotective effect of vitamin D mediated through VDR binding.