rs505922

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.

The EuroCLOT study identified genetic variants associated with coagulation factors in healthy volunteers and examined their association with ischemic stroke using a three-stage design (2,100 twins in discovery, 4,200 cases in stage 2, and 8,900 cases/55,000 controls in stage 3). The lead ABO locus SNP rs505922 showed significant association with ischemic stroke (OR=1.07, 95% CI=1.03-1.11, p=0.0006), with association specifically in cardioembolic and large-vessel stroke but not small-vessel disease. Two additional ABO SNPs (rs643434 and rs651007) also showed significant association.

GWAS study of 3,294 European ancestry individuals from the eMERGE Network examining serum bilirubin and other liver function tests. Strong association signal at UGT1A1 locus (rs887829, beta=0.15, p=1.30×10^-118) confirmed in both adult and pediatric populations. Additional associations identified in SLCO1B1, SLCO1B3, TDRP, ZMYND8, and ABO locus. Phenome-wide analysis revealed protective effect of TA7 repeat against cerebrovascular disease (OR=0.75, p=0.0008).

Case-control study investigating CD86 gene polymorphisms (-1057G/A and -2379G/C) and pancreatic cancer susceptibility in 369 Chinese patients and 412 healthy controls. The -1057A allele and -1057GA/AA genotypes showed significantly increased pancreatic cancer risk (OR ~1.5-2.0), while the -2379G/C polymorphism showed no significant association. The AG haplotype at positions -1057/-2379 was also associated with disease susceptibility.