rs718314

This case-control study examined eight SNPs in the ITPR2 gene in a Tibetan population (316 KBD patients and 320 controls). The variant rs11048526 showed significant association with Kashin-Beck Disease (KBD), with the A allele conferring increased risk (OR = 1.49, 95% CI = 1.07-2.08, p = 0.019) in the allele model, and even stronger effects in co-dominant, dominant, and log-additive models after age and gender adjustment.

Association study of 35 GWAS-identified body mass SNPs in 949 elderly Swedish participants (mean age 70-75 years). Significant association found between rs10968576 (LINGO2, intron 4) and BMI with a larger effect size (β = 0.69 kg/m²) than reported in younger populations, suggesting age-specific genetic effects on body mass in the elderly.

A hospital-based case-control study in rural and urban India (1,204 cases; 1,212 controls) examined genetic and lifestyle risk factors for breast cancer. Four SNPs in FGFR2 (rs1219648, rs2420946, rs2981575, rs2981582) showed positive associations with breast cancer (ORs 1.32-1.47). Additional SNPs in obesity and metabolic genes (rs374748 in FBN2, rs2922763 in HNF4G, rs2116830 in KCNMA1, rs11121832 in MTHFR, rs16886165 in MAP3K1, rs11594610 in TCF7L2, rs2274459 in MLN) were associated with increased breast cancer risk. Waist-to-hip ratio ≥0.95 showed strong association (OR 3.78; 95% CI 2.92-4.89), and women living first 20 years in rural areas showed protective effect (OR 0.77).

This association study investigates 18 BMI-associated and 14 WHR-associated gene variants identified by prior GWAS in 6,039 Danish individuals from the Inter99 cohort. The study found that QPCTL rs2287019 C allele was associated with increased insulinogenic index (7.4%, p=4.0×10⁻⁷) and disposition index (5.6%, p=6.4×10⁻⁵), while LRP1B rs2890652 C allele was associated with insulin resistance (3.3% increase in HOMA-IR, p=0.0011). For WHR variants, LYPLAL1/SLC30A10 rs4846567 G allele carriers showed improved insulin sensitivity (5.2% lower HOMA-IR in women, p=0.00086), whereas VEGFA rs6905288 A allele carriers showed insulin resistance in women (3.7% increase in HOMA-IR, p=0.00036).