Mechanism:

C allele could make PPAR delta work better, but it can also abolish it's own production in some ways, so the net change is difficult to predict. The C or minor allele has been associated with higher production of PPAR delta gene products (R).

The C or minor allele has been associated with higher production of PPAR delta gene products (higher transcriptional activity of the PPARδ promoter, by inducing a binding site for Sp-1 transcription factor) (R).

However, it has also been postulated that this SNP may inhibit the production of PPAR delta itself in some indirect ways (SP-1 replacing Nf-kB, inhibiting inducible PPAR expression) (R).

The C allele is associated with:

  • Were more frequently found in the elite endurance athletes than in national-level endurance athletes. CC (+ PPARGC1A CC) were 8.3X more likely in an elite athlete(R) (CC).
  • Lower risk of obesity (R).
  • There is a clear association between the C allele and reduced height (0.5 cm per allele) (R).

There are a number of potential mechanisms whereby PPAR could modulate height. For example, PPAR could reduce energy availability from the liver to muscles.  Other possibilities include PPAR delta allowing us to absorb and burn more nutrients, since it burns fat and also increases cholesterol uptake from the gut. Other evidence suggests that PPAR may exert a direct effect on the control of bone growth in the early rapid growth phase shown by young children because it has been demonstrated that activation of PPAR promotes bone remodeling by osteoclasts (R).

The T allele is associated with:

  • The CT or TT genotypes were significantly more likely to be categorized as having baseline cholesterol levels of 240mg/dL or greater compared to those withCC genotypes (R).

rs2016520

Parent Gene: PPARD

Importance: 4
Less common allele: C = 23%
More common allele: T = 77%
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