rs1544410

This study examined genetic and epigenetic markers associated with chemotherapy-induced oral mucositis in 87 pediatric patients with hematological neoplasms, with 81.9% developing mucositis. Global DNA methylation was significantly reduced in children who recovered from mucositis (18% vs 40% in healthy controls, p<0.05), and the DNMT1 rs2228611 SNP showed association with global methylation levels in cancer patients with mucositis history. miR-9-1 and miR-9-3 methylation patterns were associated with tumor status rather than mucositis.

This case-control association study of 815 Chinese pregnant women identified five SNPs in the GC (vitamin D-binding protein) gene significantly associated with serum 25-hydroxyvitamin D concentration: rs17467825, rs4588, rs2282679, rs2298850, and rs1155563. Mean 25(OH)D level was 15.67±7.98 ng/mL with 75% prevalence of deficiency. An XGBoost model incorporating these SNPs plus environmental factors achieved AUC 0.828 for predicting 25(OH)D deficiency risk. The study suggests maternal vitamin D deficiency may increase macrosomia risk (12 of 16 macrosomic infants had deficient mothers).

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 the largest study examining VDR polymorphisms in 601 prostate cancer patients receiving androgen-deprivation therapy. FokI rs2228570 (T allele) was associated with increased risk of high Gleason score (OR=1.28, P=0.043), BsmI rs1544410 (A allele) was associated with reduced risk of high PSA nadir (OR=0.55, P=0.023), and the ApaI-Tru9I-BsmI A-A-G haplotype showed increased risk of high Gleason score (P=0.050). However, no VDR polymorphisms were significantly associated with disease progression or mortality following ADT.

Gene-gene interaction study identifying pairwise SNP interactions influencing bone mineral density (BMD) in Caucasian and African samples. Discovery analysis in Kansas City (2,286) and Omaha (1,000) samples identified RBMS3 rs6549904 and rs7640046 interacting with ZNF516 rs4891159 with highly significant p-values (7.04×10⁻¹¹ and 1.03×10⁻¹⁰), with interaction ORs of 3.19-4.82. Replication in Framingham Heart Study confirmed findings (p=8.07×10⁻³ and p=2.91×10⁻³), though African American sample showed opposite directional effect, suggesting ancestry-dependent genetic architecture of osteoporosis.

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.

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.

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.

A candidate gene association study of 714 healthy children examined associations between 148 SNPs in innate immunity genes (TLR, vitamin A and D receptors, RIG-I pathway, TRIM factors) and rubella vaccine-induced cytokine responses. Twenty-two significant associations (P = 0.002–0.048) were found, including rs3740996 (His43Tyr) and rs10838525 (Gln136Arg) in TRIM5 with TNFα and IL-2/GM-CSF responses, and rs5743305 in TLR3 with GM-CSF secretion.

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 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.

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.

A cross-sectional genetic association study examining 362 Danish individuals investigating relationships between pigmentation genes and quantitative skin color, nevus counts, and familial atypical multiple-mole and melanoma (FAMMM) syndrome. MC1R variants were significantly associated with lighter arm pigmentation (p < 0.001), indicating effects on tanning response rather than constitutive skin color. No significant associations with FAMMM or nevus counts remained significant after Bonferroni correction for multiple testing.

This Danish study of 246 healthy individuals and 116 at-risk melanoma patients investigated associations between 32 pigmentary SNPs and quantitative skin color, nevi count, and familial atypical multiple-mole and melanoma (FAMMM) syndrome. Individuals carrying two or more MC1R variants (including missense mutations p.TYR152* and frameshift p.Asn29Glnfs*14) had significantly lighter skin on the upper-inner arm (p<0.001) reflecting impaired tanning ability, but no associations were found with FAMMM syndrome, suggesting FAMMM genetics are distinct from pigmentation pathways.