rs9366357
This is a intron variant variant in the CDKAL1 gene.
▶Research that mentions this SNP (1)
▶A cautionary tale: the non-causal association between type 2 diabetes risk SNP, rs7756992, and levels of non-coding RNA, CDKAL1-v1FunctionalN=221Jonathan M. Locke et al.(2015)· Diabetologia
This study examines the relationship between type 2 diabetes risk SNP rs7756992 in CDKAL1 and expression of the non-coding RNA CDKAL1-v1. While simple linear regression confirmed rs7756992's association with CDKAL1-v1 levels in UK whole blood (β=-0.75, p=0.005) and pancreatic islets (β=-1.07, p=0.009), multiple regression analysis revealed that rs9366357, a moderately linked SNP (r²=0.3), explains much more variance and renders the rs7756992 association non-significant or substantially reduced (β=-0.07, p=0.60 in Japanese cohort; β=-0.61, p=0.12 in islets). The authors conclude that dysregulated CDKAL1-v1 expression is unlikely to be the causal mechanism mediating the CDKAL1 locus association with diabetes risk.
About CDKAL1
The protein encoded by this gene is a member of the methylthiotransferase family. The function of this gene is not known. Genome-wide association studies have linked single nucleotide polymorphisms in an intron of this gene with susceptibilty to type 2 diabetes. [provided by RefSeq, May 2010]
View all CDKAL1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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