rs2383206

This cross-sectional study of 265 healthy Tehrani adults examined interactions between the rs1333048 polymorphism on chromosome 9p21 and dietary patterns on obesity risk. The AA genotype of rs1333048 was associated with increased odds of general obesity (OR 3.11, p=0.048) and central obesity (OR 2.63, p=0.026). Significant gene-diet interactions were observed between legumes dietary pattern and rs1333048 on waist circumference (p=0.047), body fat percentage (p=0.048), BMI (p=0.073), waist-to-height ratio (p=0.063), and C-reactive protein (p=0.042).

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 case-control and cohort study of 734 type 2 diabetic patients examined the association between the 9p21 locus (tagged by rs2383206) and coronary artery disease (CAD), finding that the risk allele G significantly increased CAD risk (OR=2.37 for homozygotes, p=0.0002). Importantly, the study demonstrated a significant interaction between poor glycemic control and the rs2383206 G/G genotype, with the odds ratio for CAD increasing fourfold (OR=4.27, 95% CI 2.26-8.01) in individuals with both the risk genotype and poor glycemic control, compared to twofold (OR=1.99) without poor glycemic control.