rs2294693

Pathway-based GWAS in 1625 Chinese Han gastric cancer cases and 2100 controls identified three SNPs in MAP2K1 significantly associated with gastric cancer risk: rs4287513 (OR=1.30, P=1.92×10⁻³), rs76906202 (OR=0.87, P=3.72×10⁻³, protective), and rs11631448 (OR=1.21, P=6.74×10⁻³). eQTL analysis confirmed these variants regulate MAP2K1 expression, and low MAP2K1 expression was associated with poor survival in gastric cancer patients.

This Bayesian pharmacogenetic analysis of a bupropion vs placebo smoking cessation trial (n=436 European ancestry participants) identified four SNPs with pharmacogenetic relevance from 59 candidate SNPs in nicotinic acetylcholine receptor genes. The strongest signal was rs871058 in CHRNA5, which showed treatment-by-SNP interaction effects on 7-day smoking cessation rates. Bayesian hypothesis testing proved more conservative than unadjusted frequentist tests but less so than multiplicity-corrected tests, with no control SNPs showing significant associations.