rs4657139

Genetic association study in 23,439 Caucasians and 7,112 African Americans identified novel loci modulating hematological traits. G6PD rs1050828 (Val68Met) shows strong association with red blood cell count, hemoglobin, hematocrit, and mean corpuscular volume in African Americans (P < 2.0 × 10^−13), while TPM4 rs8109288 associates with platelet count in both Caucasians and African Americans (P = 3.0 × 10^−7). HBA2-HBA1 rs1211375 associates with red blood cell traits specifically in African Americans (P < 7 × 10^−8). Study replicated 36 previously reported associations and highlights ethnic differences in genetic architecture of blood traits.

This case-control study of 6,771 Chinese participants investigated the association between NOS1AP genetic variants and type 2 diabetes. In a two-stage analysis, SNP rs12742393 showed the strongest association with type 2 diabetes in stage 1 (OR 1.24, 95% CI 1.11–1.38, p=0.0002), though it did not reach significance in stage 2. Meta-analysis combining both stages (6,469 participants) confirmed a significant association (OR 1.17, 95% CI 1.07–1.26, p=0.0005), but the authors conclude NOS1AP likely plays only a minor role in type 2 diabetes susceptibility.

In the ARIC study of 9,221 white and 2,724 African-American participants over 9 years of follow-up, rs10494366 in NOS1AP was validated as associated with reduced incidence of type 2 diabetes in calcium channel blocker (CCB) users (HR 0.57, 95% CI 0.35-0.92, p=0.016). The G allele was also associated with lower fasting glucose levels (p=0.037) in CCB users, and the association remained significant in time-dependent analysis (HR 0.70, 95% CI 0.49-0.99, p=0.036). No other NOS1AP variants showed significant associations after multiple testing correction.