rs7656250
This variant is located in the PPARGC1A gene.
▶Research that mentions this SNP (1)
▶PPARGC1A sequence variation and cardiovascular risk-factor levels: a study of the main genetic effects and gene × environment interactions in children from the European Youth Heart StudyAssociationN=2,101Brito EC et al.(2009)· Diabetologia
This candidate gene association study tested 35 tagging SNPs across PPARGC1A in 2,101 Danish and Estonian children from the European Youth Heart Study, finding nominally significant associations with BMI (rs10018239, p=0.039), waist circumference (rs7656250, rs8192678, rs3755863, rs10018239; p=0.002-0.043), systolic blood pressure (rs2970869, p=0.018), aerobic fitness (rs7656250, rs13117172; p=0.002-0.008), and fasting glucose (rs7657071, rs11724368; p=0.002-0.045). However, none of these associations remained significant after correction for multiple comparisons, suggesting PPARGC1A variation has only modest effects on metabolic and cardiovascular traits in children.
About PPARGC1A
The protein encoded by this gene is a transcriptional coactivator that regulates the genes involved in energy metabolism. This protein interacts with PPARgamma, which permits the interaction of this protein with multiple transcription factors. This protein can interact with, and regulate the activities of, cAMP response element binding protein (CREB) and nuclear respiratory factors (NRFs). It provides a direct link between external physiological stimuli and the regulation of mitochondrial biogenesis, and is a major factor that regulates muscle fiber type determination. This protein may be also involved in controlling blood pressure, regulating cellular cholesterol homoeostasis, and the development of obesity. [provided by RefSeq, Jul 2008]
View all PPARGC1A variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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