rs6922269

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.

This replication study tested 22 candidate SNPs for association with late-onset Alzheimer's disease in 1,009 cases and 1,010 controls of Caucasian descent. While the primary analysis found no significant associations with AD risk, the study identified notable associations with age-at-onset (rs2074877 in MYH13, p=0.00196) and disease duration (rs41271951 in CTSS and rs41310885 in FAM63A, p=0.006 and p=0.0014, respectively).

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.

A common deletion/insertion polymorphism rs3832406 (c.781-6823ATT(7-9)) in MTHFD1L is strongly associated with neural tube defects (NTDs), with Allele 2 showing decreased case risk (OR=0.72, P=0.002 case-control; P=0.001 TDT) and Allele 1 showing increased case risk. The variants influence splicing efficiency of MTHFD1L mRNA transcripts, with Allele 1 producing 1.4-fold higher levels of the functional long transcript variant (P=0.006).

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.