rs3805489
This is a upstream gene variant variant in the PRKAA1 gene.
▶Research that mentions this SNP (1)
▶Synergistic effect of smoking with genetic variants in the AMPKα1 gene on the risk of coronary artery disease in type 2 diabetesAssociationN=404Xiaowei Ma et al.(2014)· Diabetes/Metabolism Research and Reviews
This case-control study examined associations between five haplotype-tagging SNPs in the AMPKα1 (PRKAA1) gene and coronary artery disease (CAD) risk in 404 Chinese Han type 2 diabetic patients (260 CAD cases, 144 controls). The minor allele C at rs3805489 was protective against CAD (OR 0.67, 95% CI 0.48-0.92, p=0.015). A significant synergistic interaction was found between smoking and rs3805489 genotype, with smokers carrying the AA genotype having threefold higher CAD risk compared to non-smokers with AC/CC genotypes (OR 3.02, 95% CI 1.39-6.57, p=0.005).
About PRKAA1
The protein encoded by this gene belongs to the ser/thr protein kinase family. It is the catalytic subunit of the 5'-prime-AMP-activated protein kinase (AMPK). AMPK is a cellular energy sensor conserved in all eukaryotic cells. The kinase activity of AMPK is activated by the stimuli that increase the cellular AMP/ATP ratio. AMPK regulates the activities of a number of key metabolic enzymes through phosphorylation. It protects cells from stresses that cause ATP depletion by switching off ATP-consuming biosynthetic pathways. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008]
View all PRKAA1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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