rs10462020
This is a variant in the PER3 gene that changes a valine to an glycine.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Genome-wide association and meta-analysis in populations from Starr County, Texas, and Mexico City identify type 2 diabetes susceptibility loci and enrichment for expression quantitative trait loci in top signalsMeta-analysisN=2,583Below JE et al.(2011)· Diabetologia
Genome-wide association study (GWAS) of type 2 diabetes in 837 Mexican-Americans cases and 436 controls from Starr County, Texas, combined with meta-analysis of 967 cases and 343 controls from Mexico City. The study identified 49 high-quality SNPs in 14 genomic regions associated with type 2 diabetes, including novel loci in PER3, PARD3B, EPHA4, TOMM7, PTPRD, and IL34. Top signals showed odds ratios ranging from 1.26 to 1.83. Functional annotation revealed significant enrichment of expression quantitative trait loci (eQTL) in muscle and adipose tissues among top associated variants.
About PER3
This gene is a member of the Period family of genes and is expressed in a circadian pattern in the suprachiasmatic nucleus, the primary circadian pacemaker in the mammalian brain. Genes in this family encode components of the circadian rhythms of locomotor activity, metabolism, and behavior. This gene is upregulated by CLOCK/ARNTL heterodimers but then represses this upregulation in a feedback loop using PER/CRY heterodimers to interact with CLOCK/ARNTL. Polymorphisms in this gene have been linked to sleep disorders. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2014]
View all PER3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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