rs2228570

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 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 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).

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 Part 2 of a review on house dust mite (HDM) allergen sensitization in children, discussing genetic factors that influence IgE responses and clinical manifestations of HDM allergy. The review summarizes recent advances in understanding the role of gene polymorphisms (including HLA-DRB1, IL-4, IL-10, VDR, TNF-α, IL-18) in HDM sensitization development, and covers diagnostic approaches and allergen-specific immunotherapy (ASIT) effectiveness for HDM-induced allergic diseases.

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.

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.

A pooled analysis of five population-based case-control studies within the Ovarian Cancer Association Consortium examined the association between the VDR rs2228570 (Fok I) polymorphism and invasive ovarian carcinoma risk in 1,820 cases and 3,479 controls. The T allele was significantly associated with a 9% increased ovarian cancer risk per allele (OR=1.09; 95% CI: 1.01-1.19; p=0.04), with stronger associations among younger women (aged <50 years, OR=1.24; 95% CI: 1.04-1.47; p=0.02). The analysis provides evidence that this functional VDR polymorphism may influence ovarian cancer susceptibility.

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.