rs1063192

This comprehensive review synthesizes literature on gestational diabetes mellitus (GDM), demonstrating its complex multifactorial etiology involving genetic factors (SNPs in GCKR, KCNQ1, MTNR1B, TCF7L2), epigenetic modifications (DNA methylation and microRNA expression), and alterations in microbial composition across multiple body sites. While certain SNP variants are associated with GDM phenotypes globally, genetic predisposition alone does not explain disease development; lifestyle factors can modify epigenetic signatures and microbiota composition to modulate risk. Evidence indicates genes, epigenetic alterations, and microbiota can transfer from mother to offspring with long-term health consequences.

Case-control study of 120 Greek POAG patients and 113 controls examining the association of miR182 rs76481776 and CDKN2B rs3217992 polymorphisms with primary open-angle glaucoma. The T allele of rs76481776 was significantly associated with increased POAG risk (OR: 2.62, 95% CI: 1.56-4.39, p=0.0002), as was the A allele of rs3217992 (OR: 1.72, 95% CI: 1.18-2.49, p=0.005). Both variants are proposed to affect miRNA-mediated regulation and increase glaucoma susceptibility in the Greek population.

This genome-wide association study identified four genes influencing theta band event-related oscillations, a heritable neuroelectrical trait associated with alcohol dependence. The strongest association for alcohol dependence risk was rs7916403 in serotonin receptor gene HTR7 on chromosome 10q23 (combined P = 1.53 × 10⁻⁴), with a recessive effect (OR = 1.32–1.37, P = 0.031–0.042). Other significant markers included rs4907240 in ARID5A (P = 3.68 × 10⁻⁶), rs13831 in GNAS1, and non-synonymous rs2294015 in ANXA13.

A replication study of genome-wide association findings in the CDKN2A/CDKN2B region on chromosome 9p in 3,093 French Europids (1,455 cases, 1,638 controls). The study confirms a strong association of rs10811661 with type 2 diabetes (p=3.8×10⁻⁷, OR 1.43 [95% CI 1.24-1.64]) and identifies rs3218018 as a secondary signal surviving Bonferroni correction (p=0.002). The rs564398 variant did not reach significance in this population.