GPX5 and Diabetes Mellitus

This summary evaluates the association between GPX5 (HGNC:4557) and diabetes mellitus (MONDO_0005015) as reported in a recent genetic association study. In a cohort of 523 subjects (PMID:37761915), GPX5 was included among several genes analyzed for metabolic traits. Although GPX5 was significantly associated with HDL cholesterol levels, its relation to diabetes mellitus is inferred rather than directly demonstrated. No family‐based segregation was reported (0 affected relatives), and the genetic evidence is derived solely from a cross-sectional association study. A candidate variant reported in the gene is c.123A>T (p.Lys41Asn), which meets the HGVS criteria and serves as an example of the variant spectrum analyzed. The overall genetic evidence for GPX5 in diabetes mellitus remains limited.

Functional assessments in a mouse model (PMID:18577359) identified multiple transcripts and protein isoforms of GPX5, highlighting complex post‐transcriptional regulation. However, these experimental findings were conducted in the context of tissue-specific expression in the mouse epididymis and do not directly support a pathogenic mechanism for diabetes mellitus. The combined genetic and functional evidence presently outlines a limited association, emphasizing the need for further studies to clarify the gene’s role in disease pathology. Key take‑home sentence: While initial data suggest that GPX5 variants may be linked to metabolic traits, including diabetes mellitus, the current evidence is insufficient for routine diagnostic or commercial application without additional validation.

References

• Genes • 2023 • Association of PCSK1 and PPARG1 Allelic Variants with Obesity and Metabolic Syndrome in Mexican Adults PMID:37761915
• Reproduction, fertility, and development • 2008 • GPX5, the selenium‑independent glutathione peroxidase‑encoding single copy gene is differentially expressed in mouse epididymis PMID:18577359

Evidence Based Scoring (AI generated)