rs11096957

This genome-wide association study identified rs6265 (Val66Met) in the BDNF gene as a phosSNP (phosphorylation-related SNP) associated with bone mineral density (BMD) in three independent populations (~5,000 subjects total). Individuals carrying the AA genotype had significantly lower hip BMD than GA/GG carriers. Functional studies demonstrated that rs6265 regulates BDNF protein phosphorylation at residue T62 and affects osteoblast differentiation through modulation of genes OPN, BMP2, and ALP.

A prospective study of 568 Chinese non-small-cell lung cancer (NSCLC) patients found that four immune gene polymorphisms were independently associated with survival: IL-5R rs11713419 (5'-UTR, P=0.001), IL23R rs6682925 (5'-FR, P=0.017), TLR1 rs5743551 (5'-FR, P=0.02), and TLR3 rs3775291 (Leu412Phe, P=0.01). Patients carrying 1 unfavorable locus had 124% increased mortality risk (HR=2.24, 95% CI: 1.33-3.75), and those with 2-4 unfavorable loci had 175% increased risk (HR=2.75, 95% CI: 1.67-4.51). Combined SNP and clinical risk score model achieved 5-year AUC of 0.831 versus 0.484 for clinical factors alone.

This case-control study examined the association between TLR10 gene polymorphisms and immunoglobulin A nephropathy (IgAN) in 199 Korean children and 289 controls. The rs10004195 promoter SNP was significantly associated with IgAN in both codominant (p=0.016 for TA; p=0.044 for AA) and dominant models (p=0.0068, OR=1.98, 95% CI=1.28-3.06 for A allele carriers), with the A allele significantly increasing IgAN risk. Higher proteinuria levels were observed in IgAN patients carrying the A allele of rs10004195 (4.01 vs 2.00 mg/m²/h, p=0.033). Three other missense SNPs (rs11096957, rs11096955, rs4129009) showed no significant association with IgAN.