Variant Synonymizer: Platform to identify mutations defined in different ways is available now!
Over 2,000 gene–disease validation summaries are now available—no login required!
GPX5, which encodes a selenium‑independent glutathione peroxidase, has been implicated in obesity disorder through multiple association studies. A case‑control study in Mexican children and adolescents (n = 585 PMID:32752212) identified haplotypes in the GPX5 region that were associated with obesity risk, although no definitive coding variant meeting HGVS criteria was reported. These genetic data suggest a modest contribution of GPX5 variation to obesity disorder, with the observed protective and risk haplotypes adding to the multifactorial etiology of the condition.
Functional assessments in murine models have provided further context by revealing complex transcriptional patterns and alternative splicing of GPX5, yet the direct mechanistic link between these molecular alterations and the pathogenesis of obesity remains unproven (PMID:18577359). Overall, the integrated evidence supports a limited gene‑disease association for GPX5 with obesity disorder, indicating that further research is needed to confirm its clinical utility. Key take‑home sentence: Although GPX5 shows significant associations in large cohorts, its limited genetic and functional evidence warrants additional studies before routine clinical application.
Gene–Disease AssociationLimitedAssociation observed in large case‑control studies (585 subjects PMID:32752212) without direct familial segregation or conclusive functional recapitulation. Genetic EvidenceLimitedCase‑control and haplotype analyses indicate a modest association of GPX5 with obesity disorder, although no definitive pathogenic coding variant was identified. Functional EvidenceLimitedFunctional studies in a murine model demonstrated complex transcript profiles and alternative splicing of GPX5, but direct mechanistic evidence linking these findings to obesity remains unestablished. |