The C allele is associated with:
- The C allele is protective against Huntington's, so it presumably has proPGC-1a effects on the whole. The C allele (or minor allele) has been associated with a three to five year delay in the age of onset of Huntington's disease relative to the T allele (R).
- One study conducted on a cohort of 234 Huntington's patients of Italian descent demonstrated that patients with a TT genotype, age of onset was on average 45.08 years, while CT patients were 48.75, and CC patients began to show symptoms at age 49.09 (p<0.005) (R).
- An analysis of this SNP revealed the C allele causes a loss of potential binding sites for CREBproteins. On the other hand, a new binding site is generated for other proteins. It's speculated that the region around this SNP can regulate a region that controls certain functions ofPGC-1alpha (R).