rs7665116
This variant is located in the PPARGC1A gene.
▶Research that mentions this SNP (1)
▶Population stratification may bias analysis of PGC-1α as a modifier of age at Huntington disease motor onsetAssociationN=1,727Eliana Marisa Ramos et al.(2012)· Human Genetics
This study examined whether rs7665116 in PPARGC1A (PGC-1α) modifies age at motor onset in Huntington's disease across 1,727 European HD patients. While unadjusted analysis showed significant association in additive (β=0.090, p=0.009) and dominant (β=0.113, p=0.008) models, adjustment for ancestry revealed the association was due to population stratification, not true genetic effect. Southern European cases had significantly later onset (4-5 years) and higher rs7665116 minor allele frequency despite similar CAG repeat lengths, indicating ancestry-dependent phenotypic stratification rather than a modifier effect.
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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