rs12704795
This is a intron variant variant in the PON2 gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Paraoxonase 2 (PON2) polymorphisms and development of renal dysfunction in type 2 diabetes: UKPDS 76AssociationN=3,374Calle R. et al.(2006)· Diabetologia
This prospective cohort study examined whether three SNPs in the PON2 gene (C311S, A148G, and an intronic variant rs12704795) predict renal dysfunction in 3,374 type 2 diabetic subjects from the UK Prospective Diabetes Study followed for a median of 14 years. While some nominal statistical associations with microalbuminuria development were observed, the study concluded that PON2 variants have at best only a modest effect on renal dysfunction risk in type 2 diabetes.
About PON2
This gene encodes a member of the paraoxonase gene family, which includes three known members located adjacent to each other on the long arm of chromosome 7. The encoded protein is ubiquitously expressed in human tissues, membrane-bound, and may act as a cellular antioxidant, protecting cells from oxidative stress. Hydrolytic activity against acylhomoserine lactones, important bacterial quorum-sensing mediators, suggests the encoded protein may also play a role in defense responses to pathogenic bacteria. Mutations in this gene may be associated with vascular disease and a number of quantitative phenotypes related to diabetes. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
View all PON2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…