rs2073438

This case-control study investigated associations between genetic polymorphisms in lipoxygenase pathway genes (ALOX5, FLAP, ALOX12, ALOX15) and colorectal cancer risk across three US populations (colon cancer: 1424 cases/1780 controls; rectal cancer: 583 cases/775 controls; adenoma: 485 cases/578 controls). The ALOX5 VNTR variant was associated with significantly lower rectal cancer risk (OR>5/≥5 vs 5/5 = 0.42, p=0.01). Four SNPs (rs17239025, rs2073438, rs4796535, rs2619112) were associated with rectal cancer risk at p≤0.05. Genetic variability in FLAP and ALOX15 modified the protective effect of NSAID use against colorectal neoplasia, particularly for rectal cancer.

This case-control association study identified rs10483032 in the CBR3 gene as associated with type 2 diabetes and insulin resistance in Chinese populations (combined OR = 1.29, 95% CI = 1.14-1.47, P < 0.0001). The association was replicated in multiple Chinese samples and validated in the FUSION GWAS. Functional studies demonstrated CBR3 expression increases during adipocyte differentiation, and CBR3 knockdown enhanced adipogenesis, suggesting the risk variant modulates type 2 diabetes susceptibility through effects on adipogenesis and insulin sensitivity.

This family-based association study genotyped 10 SNPs in ALOX12 and ALOX15 genes in 1,260 individuals from 401 Chinese nuclear families and tested their association with peak bone mineral density (BMD) using the quantitative transmission disequilibrium test (QTDT). rs916055 in ALOX15 was significantly associated with lumbar spine BMD (p=0.027) and rs312470 in ALOX12 was significantly associated with femoral neck BMD (p=0.029-0.036), with additional associations for rs2292350 in ALOX12 at multiple sites. The results suggest that genetic polymorphisms in ALOX12 and ALOX15 contribute to variations in peak BMD in Chinese women.