rs10505477

This case-control study examined associations between lncRNA CASC8 genetic polymorphisms and tuberculosis (TB) susceptibility in 900 Chinese TB patients and 1534 healthy controls. The rs7836840 C allele showed significant association with TB risk (OR = 1.196, 95% CI = 1.05-1.362, P = .027 after Bonferroni correction) in pulmonary TB subtype analysis. Variants rs7825118, rs9297758, and rs6981424 were associated with clinical TB manifestations including hemoglobin levels, neutrophil counts, and liver enzyme activity.

A case-control study of 1,294 NSCLC cases and 1,729 healthy Chinese Han controls genotyped 17 SNPs in 13 lncRNA genes. Three SNPs showed significant associations with lung cancer risk: rs498238 (CC genotype OR=0.33, p=0.043), rs16901995 (CT/TT genotypes in non-smokers OR=0.78, p=0.035), and rs219741 (variant genotypes in young patients OR=1.47, p=0.033). No associations were found with overall survival.

Meta-analysis of 78 case-control studies (73,996 cases, 96,741 controls, 170,737 total subjects) examining the association between 8q24 rs6983267 G/T polymorphism and cancer susceptibility. The G risk allele was significantly associated with increased cancer risk across all genetic models (dominant: OR=1.19, 95%CI=1.13-1.26; recessive: OR=1.19, 95%CI=1.14-1.25; homozygous: OR=1.31, 95%CI=1.23-1.40). Significant associations were found for colorectal cancer, prostate cancer, thyroid cancer, and lung cancer in ethnicity-stratified analyses.

A meta-analysis of 78 case-control studies (73,996 cases, 96,741 controls) found that the rs6983267 polymorphism on chromosome 8q24 was significantly associated with increased cancer risk across all genetic models (dominant: OR=1.19, 95% CI=1.13-1.26; recessive: OR=1.19, 95% CI=1.14-1.25; homozygous: OR=1.31, 95% CI=1.23-1.40). Stratified analyses showed significant associations for colorectal cancer, prostate cancer, and thyroid cancer in Caucasians, and lung cancer in Asians.

Genome-wide investigation of gene-environment interactions in colorectal cancer using a two-tiered case-only/case-control design. In 314 sporadic CRC cases (stage I) and 259 familial CRC cases plus 1,002 controls (stage II), rs1944511 showed a significant interaction with overweight (OR=2.00, p=0.042 after multiple testing correction). Several other SNPs showed nominally significant G×E interactions with overweight, smoking, and alcohol consumption. Among candidate CRC-associated SNPs, rs9929218 showed the strongest interaction with alcohol consumption (nominal p=0.008).

This study examined 10 chromosome 8q24 SNPs in 1,157 men (308 prostate cancer cases, 469 controls from West Africa, and additional Caribbean and population samples) to determine the prevalence and risk magnitude of 8q24 variants in populations of African descent. The study replicated associations between prostate cancer risk and rs6983561 (OR=0.6, P=0.03), rs16901979 (OR=1.6, P=0.03), and rs7008482 (OR=2.3) in West African men, with no significant heterogeneity of effects across African descent populations.

This study evaluated the utility of genomic profiling combining multiple low-penetrance variants for colorectal cancer (CRC) risk prediction and screening. Using simulations and ARCTIC study data (1,257 cases, 1,336 controls), the authors found that 140-160 common risk variants (OR ~1.2 each) would be needed to capture 80% of CRC cases in the top 50% of individuals by genetic risk score. In empirical analysis, a panel of replicated variants (rs1801282, rs2289046, rs2472300, rs3099844, rs4779584, rs10505477, rs10735810) achieved modest predictive value (AUC 0.54-0.66 with age/sex), with subjects carrying 30+ risk alleles showing 2.26-fold increased risk (95% CI 1.27-4.04) versus those with ≤20 alleles.

This case-control study examined whether seven breast cancer susceptibility alleles (in FGFR2, TNRC9, MAP3K1, LSP1, and chromosomal regions 8q24 and 2q35) were associated with epithelial ovarian cancer risk. The pooled analysis of 1,383 ovarian cancer cases and 1,804 controls found no significant associations between these variants and ovarian cancer risk, with OR estimates for FGFR2 rs1219648 of 1.06 (95% CI=0.95-1.18) and rs2981582 of 1.04 (95% CI=0.93-1.15), suggesting that breast cancer risk alleles may be specific to breast cancer.