rs2070744

A candidate gene association study in 100 Russian vitiligo patients and 100 controls identified a strong novel association between GSTP1 rs1138272 (Ala114Val, OR=13.03, Bonferroni-adjusted P=0.0015) and vitiligo susceptibility. Cumulative analysis of multiple xenobiotic metabolizing genes showed that carrying higher numbers of risk alleles was associated with increased vitiligo risk (9-16 vs 3-8 alleles: OR=2.79, P=0.00063), supporting a polygenic model for vitiligo involving detoxification pathway genes.

This case-control study investigated associations between five NOS3 gene polymorphisms and osteonecrosis of the femoral head (ONFH) in Korean patients with systemic lupus erythematosus. Two exonic NOS3 variants were significantly associated with ONFH risk: rs1549758 (Asp258Asp) and rs1799983 (Glu298Asp, G894T) showed OR 2.7-3.8 (p=1.0×10⁻⁵-5.0×10⁻⁴). The rs1799983-rs1800780 haplotype G-A was protective (OR 0.39, p=1.6×10⁻³), while haplotype T-A increased risk (OR 3.17-3.73, p=2.0×10⁻⁵-6.0×10⁻⁴).

A hospital-based case-control study in rural and urban India (1,204 cases; 1,212 controls) examined genetic and lifestyle risk factors for breast cancer. Four SNPs in FGFR2 (rs1219648, rs2420946, rs2981575, rs2981582) showed positive associations with breast cancer (ORs 1.32-1.47). Additional SNPs in obesity and metabolic genes (rs374748 in FBN2, rs2922763 in HNF4G, rs2116830 in KCNMA1, rs11121832 in MTHFR, rs16886165 in MAP3K1, rs11594610 in TCF7L2, rs2274459 in MLN) were associated with increased breast cancer risk. Waist-to-hip ratio ≥0.95 showed strong association (OR 3.78; 95% CI 2.92-4.89), and women living first 20 years in rural areas showed protective effect (OR 0.77).

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.

This case-control and family-based study evaluated 64 SNPs in 34 genes for associations with spina bifida in 558 Irish case-families and 994 controls. Spina bifida was significantly associated with LEPR rs1805134 (GRR: 1.5, P = 0.0264) and COMT rs737865 (GRR: 1.4, P = 0.0206), with additional confirmations of previous findings in MTHFR 677C>T and other genes, suggesting roles for leptin signaling and methylation pathways in neural tube defect pathogenesis.

This case-control study identified biallelic combinations of genetic variants associated with vasovagal syncope using Bayesian statistical analysis in 175 VVS patients and 200 controls. Eleven pairwise combinations of SNPs from neurohumoral regulation genes and the 2q32.1 locus were identified, with five showing significant epistatic interactions. Key associations included COMT*G with OR=2.04 (p=0.0015) and COMT*G + ADORA2A*C/C with OR=2.78 (p<0.001), suggesting a common genetic background between syncope and cardiovascular pathology.

Case-control association study examining NOS3 polymorphisms and psoriasis risk in 368 patients and 400 controls. The -786 C allele (rs2070744) was significantly more frequent in patients (72% vs 59%, OR 1.70, 95% CI 1.24-2.33, p<0.001), and the intron 4 VNTR 4-repeat allele was also more frequent (32% vs 21%, OR 1.78, p<0.001). The Glu298Asp polymorphism (rs1799983) showed no significant association with psoriasis risk. None of the NOS3 variants were associated with hypertension or ischemic cardiac disease in this population.

This comprehensive review examines genetic association studies on prostate cancer, discussing GWASs that have identified over 75 variants associated with PCa risk (as of February 2016), with major susceptibility regions at 8q24, 17q12, 17q24, 10q11, and 19q13. The paper also reviews candidate gene-based approaches targeting genes involved in androgen signaling, carcinogen metabolism, DNA repair, vitamin D signaling, inflammation, angiogenesis, and cellular adhesion, as well as regulatory RNA genes.

The NOS3 -786 T/C polymorphism (rs2070744) is associated with elite performance in power-oriented sports (throwing, jumping, sprinting) in Spanish athletes. The T allele was significantly more frequent in power athletes (71%) compared to endurance athletes (55%, P=0.003) and controls (56%, P=0.015). TT genotype was overrepresented in power athletes (57%) versus endurance athletes (33%, P=0.017) and controls (34%, P=0.026). No association was found with elite endurance performance.

This is a literature review examining the role of genetic factors in diabetic nephropathy (kidney disease) in type 2 diabetes mellitus. The review highlights candidate genes in the renin-angiotensin system (ACE and AGT) and endothelial factors (eNOS3 and EDN1). Meta-analysis revealed associations of three eNOS3 polymorphisms (4b/a, T-786C, G984T) with diabetic nephropathy (OR=1.12-1.77 and 1.11-1.50); the ACE I/D polymorphism showed association particularly in Asian populations (D-allele OR=1.32, DD genotype OR=1.67); M235T in AGT showed inconsistent associations across populations.

This dissertation investigated the genetic basis of violent criminal behavior, antisocial personality disorder (ASPD), and broader antisocial behavior through GWAS and meta-analyses in Finnish and international populations. Study I identified an intronic CDH13 variant (rs11649622, OR=2.7, p=4.19×10⁻⁶) associated with extremely violent offending, replicated in homicide offenders (p=5.3×10⁻⁷, OR=2.17). Study II revealed the first genome-wide significant association between LINC00951 variant rs4714329 (OR=1.59, p=1.6×10⁻⁹) and ASPD. Study III meta-analysis of 16,400 individuals found no genome-wide significant associations with broader antisocial behavior, though polygenic risk scores explained ~5% of phenotypic variance.

This journal issue contains multiple genetic association studies on rheumatoid arthritis (RA). A key REMARCA study (146 aCCP+ RA patients vs 314 controls) identified polymorphisms in CTLA4 (rs231775 +49A/G), IL10 (rs1800872 -592A/C), and IL6R (rs8192284 +358A/C) associated with high inflammatory disease activity, with CTLA4 and IL10 minor alleles showing increased risk (OR=1.4, p=0.02 and OR=1.9, p<0.0001 respectively) and IL6R minor allele being protective (OR=0.7, p=0.03). A separate study analyzed NOS3, PPARG, PPARGC1A, PPARGC1B and PAI1 polymorphisms in 73 RA patients for cardiovascular risk.