rs1799768

This systematic review analyzed genetic associations with gastroschisis from 1980-2017, identifying 14 SNPs from 10 genes associated with crude risk and 30 SNPs from 14 genes with stratified risk. Four SNPs showed significant associations: rs4961 (ADD1, p=0.023), rs5443 (GNB3, p=0.002), rs1042713 (ADRB2, p=0.007), and rs1042714 (ADRB2, p=0.006). The findings suggest genetic susceptibility in gastroschisis is not restricted to gene-environment interactions, with blood pressure regulation genes playing a significant role in vascular disruption pathogenesis.

A case-control study of 1,101 Korean individuals (612 gastric cancer patients, 489 controls) identified SERPINE1 intron 7 polymorphisms associated with diffuse-type gastric cancer (DGC) susceptibility. The SNP rs2227692 (C>T) showed significant association with DGC (OR=1.62, p=0.00084 for T-allele carriers) but not with intestinal-type gastric cancer. A risk haplotype containing rs2227692 and three additional correlated variants (c.1162+604AAAG repeat, c.1162+664_673 deletion, rs2070683) exhibited 30% higher SERPINE1 gene expression in luciferase assays (p=0.025).

This population-based study of 992 Ghanaian residents examined genetic and non-genetic determinants of tissue-type plasminogen activator (t-PA) and plasminogen activator inhibitor-1 (PAI-1) levels, factors associated with thromboembolic disease risk. The PAI-1 4G/5G (rs1799768) polymorphism predicted PAI-1 levels in females, while the t-PA I/D (rs4646972), and renin polymorphisms (rs3730103, rs1464816) showed gender-specific associations with t-PA and PAI-1. Both traditional cardiovascular risk factors (BMI, blood pressure, glucose, lipids) and genetic variants contributed to t-PA and PAI-1 variation, with genetic factors differing significantly between males and females.