rs599839

Case-control study of 673 preterm birth (PTB) cases vs 1,119 controls across four maternal cohorts testing 35 SNPs in cardiovascular, inflammatory, and metabolic disease genes. Found 13 statistically significant associations with PTB (P<0.05), more than expected by chance (binomial P=0.02). Most significant was HLA-DQA1 rs9272346 G allele protective effect in US White mothers (P=0.02, OR=0.65, 95% CI 0.46-0.94), which nominally replicated in Danish cohort (P=0.02, OR=0.85, 95% CI 0.75-0.97) but lost significance after correction for multiple testing.

Case-control study of 40 European Moyamoya disease patients versus 68 controls found a significant association between rs599839 (A/G, OR=2.17, 95% CI=1.17-4.05, p=0.01) in the PSRC1 gene and Moyamoya disease, along with three additional SNPs showing borderline significance in ELN and CXCL12 genes. The findings suggest shared genetic pathways between Moyamoya disease and atherosclerotic disease.

Prospective cohort study of 33,282 individuals from the MORGAM Project investigating SNPs from recent GWAS in relation to incident coronary heart disease (CHD), stroke, and total mortality. SNP rs1333049 (9p21.3) was associated with both CHD (HR=1.20, 95% CI 1.08-1.34) and stroke, rs11670734 (19q12) with total mortality and stroke, and several SNPs associated with lipid levels and blood pressure.

This is a summary of Group 14 analyses from the Genetic Analysis Workshop 16 (GAW16) demonstrating the use of longitudinal data from the Framingham Heart Study in genome-wide association studies. Multiple analytical approaches were compared for identifying genetic associations with metabolic and cardiovascular traits including BMI, type 2 diabetes, blood pressure, lipid levels, and coronary heart disease, using various statistical methods such as linear mixed models, growth mixture modeling, and generalized estimating equations.

This genome-wide association study investigated whether seven CAD-associated loci affect coronary artery disease risk through traditional cardiovascular risk factors. The study found that rs599839, located near PSRC1 and CELSR2 on chromosome 1p13.3, showed a strong association with serum cholesterol levels, with the risk allele A associated with 0.17 mmol/l higher total cholesterol per allele copy (P = 3.84 × 10⁻⁶) and 0.19 mmol/l higher LDL cholesterol (P = 8.56 × 10⁻⁵). This association was replicated in independent cohorts and the findings support further investigation of these genes in cholesterol metabolism and coronary risk.