rs1136410

Genome-wide scan of long noncoding RNA (lncRNA) variants in 19,862 individuals identified five novel lncSNP associations with pancreatic ductal adenocarcinoma (PDAC) risk. The strongest association was rs7046076 (C allele, OR=1.13, 95% CI=1.09-1.18, P=9.73×10⁻⁹) in the NONHSAG053086.2/lnc-SMC2-1 lncRNA, which disrupts binding to hsa-mir-1256, regulating genes including CDKN2B and DAAM1 involved in cell cycle control and cell migration.

Population-based case-control study of 601 Connecticut women with non-Hodgkin lymphoma (NHL) and frequency-matched controls examining interactions between DNA repair gene polymorphisms and body mass index. Suggestive gene-BMI interactions were observed for BRCA1 rs799917 (OR=1.7), XRCC1 rs1799782 (OR=1.5), ERCC2 rs13181 (OR=2.0), and other DNA repair genes in modifying NHL risk. After multiple testing correction, significant interactions remained for WRN rs1801195 with T-cell lymphoma (P=0.004) and ERCC2 rs13181 with diffuse large B-cell lymphoma (P=0.002).

This case-control study of 1,202 Korean rheumatoid arthritis patients and 979 healthy controls found no significant association between PARP-1 polymorphisms and RA susceptibility overall. However, rs1805413 showed association with radiological severity of RA in a recessive model (OR=0.11, 95% CI 0.02-0.55, P=0.007), and haplotype 4 was associated with anti-CCP antibody negativity (OR=0.24, 95% CI 0.10-0.63, P=0.003).

Meta-analysis of 21 studies (12,027 cases, 14,106 controls) examined the association between PARP-1 V762A polymorphism (rs1136410) and cancer risk. Overall, no significant association was found between the variant and cancer susceptibility. However, stratified analysis by ethnicity revealed that the variant A allele was associated with increased cancer risk in Asian populations (OR=1.11, 95% CI: 1.01-1.23) but decreased risk in Caucasian populations (OR=0.89, 95% CI: 0.80-1.00), particularly for glioma (OR=0.79, 95% CI: 0.69-0.90).

This case-control study of 722 lung cancer cases and 929 controls examined 240 SNPs in DNA repair and cell cycle control pathway genes among smokers. Thirty-eight SNPs were associated with lung cancer risk at P<0.05, with strongest associations in GTF2H4 (rs2074508), LIG1 (rs10500298), PARP1 (rs747658, rs3219073), and XRCC1 (rs1799782, rs3213255). A genetic risk score combining 31 SNPs showed 3.44-fold increased risk in the highest versus lowest quartile.

This case-control study examined associations between PARP-1 gene variants and Alzheimer's disease risk in a Taiwanese population of 120 AD patients and 111 healthy controls. Individual SNP variants showed no significant associations; however, haplotype analysis revealed that Ht3-TT and Ht4-CC haplotypes were significantly associated with increased AD risk (P < 0.0001, OR: 12.22 for Ht3-TT), while the Ht1-TC haplotype was protective (P = 0.002, OR: 0.52).

Case-control study of 1,150 bladder cancer cases and 1,149 controls analyzing 43 SNPs in 12 base excision repair (BER) genes. Significant associations with bladder cancer risk were found for OGG1 rs125701 (OR=0.78, 95% CI 0.63-0.96, decreased risk), PARP1 rs1136410/V762A (OR=1.24, 95% CI 1.02-1.51, increased risk), and POLB rs3136717 (OR=1.30, 95% CI 1.04-1.62, increased risk). Meta-analysis of XRCC1 rs25487 (Q399R) across 7 studies showed no overall association with bladder cancer risk.