rs1333040

This population-based case-control study examined associations between three GWAS-identified SNPs (rs700651, rs10958409, rs1333040) and stroke risk in 451 Chinese female stroke cases and 831 controls. The study replicated associations of rs10958409 (OR 1.54, 95% CI 1.20-1.98 under additive model) and rs1333040 (OR 2.16, 95% CI 1.19-3.95 under dominant model) with stroke risk, particularly hemorrhagic stroke. Combined oral contraceptive (COC) use with risk alleles further elevated stroke risk, with COC users carrying rs10958409 GA/AA or rs1333040 CT/TT genotypes showing 2.59-fold and 4.24-fold increased overall stroke risk, and up to 15-fold increased hemorrhagic stroke risk.

This study identified seven SNPs on chromosome 9p21.3 associated with atherosclerotic stroke risk in 4,376 cases and 4,305 controls from Europe and North America. The lead SNP rs1537378 had a pooled odds ratio of 1.21 (95% CI=1.07-1.37, p=0.002) with a population attributable risk of 20.1% for atherosclerotic stroke. The associated variants are located in a region spanning over 100 kb that overlaps genes encoding ANRIL (antisense noncoding RNA), MTAP, CDKN2A, and CDKN2B, implicating this locus in vascular disease pathogenesis.

This case-control study in 869 Korean women with gestational diabetes mellitus (GDM) and 632 non-diabetic controls examined whether type 2 diabetes-associated genetic variants discovered in recent GWAS are also associated with GDM. Multiple variants showed significant associations with GDM, including rs7756992 and rs7754840 in CDKAL1 (OR 1.55, p=4.17×10⁻⁹), rs10811661 in CDKN2A-CDKN2B (OR 1.49, p=1.05×10⁻⁷), variants in HHEX, rs4402960 in IGF2BP2 (OR 1.18, p=0.03), rs13266634 in SLC30A8 (OR 1.24, p=0.005), and rs7903146 in TCF7L2 (OR 1.58, p=0.038).