Along with Daniel Polasik and his colleagues from the West Pomeranian University of Technology in Poland, I was a co-author on a paper on a SNP in the promoter region of the equine PPARGC1a gene. The full paper can be found here but the Abstract of the paper is:
The protein encoded by PPARCG1a gene is a key regulator of genes involved in energy metabolism. Numerous studies indicate that the PPARGC1a gene may be a good marker for athletic performance in horses. Therefore the aim of this study was to detect polymorphisms in the promoter region of PPARGC1a gene and to evaluate its presence in horses belonging to nine different breeds (n = 268) as well as in elite and non-elite Thoroughbred racehorses with known racing outcomes (n = 276)
By sequencing regulatory region of equine PPARGC1a gene one novel SNP (g.100.784.525 C>G) was detected which changes transcription factors binding sites. To genotype polymorphism PCR-RFLP method was applied. Frequency of alleles and genotypes showed considerable differentiation in analyzed breeds. GG genotype was found only in Standardbred, Polish Heavy Draft horses and Purebred Arabian (0.04-0.13). The distribution of PPARGC1A genotypes was in Hardy-Weinberg equilibrium except Polish Heavy Draft horses (P≤0.05). Moreover disproportionate presence of the GC genotype in elite Thoroughbred racehorses over the CC genotype in the non-elite population (OR=1.69) was noticed. Similarly GC genotype was over represented in distance runners in relation to sprinters analyzing all Thoroughbreds (OR=2.00) as well as only elite horses (OR=1.31).
While there are multiple genes involved in athletic performance, given the association of PPARGC1A to mitochondrial biogenesis and conversion slow-twitch type I muscle fibers, this novel SNP may explain adaption in aerobic metabolism. The relationship between genotypes and gene expression should be performed next to evaluate its functional role.
The PPARGC1a gene encodes for the protein Peroxisome proliferator-activated receptor gamma coactivator 1-alpha (PGC-1α). PGC-1α is a transcriptional coactivator that regulates the genes involved in energy metabolism. It is the master regulator of mitochondrial biogenesis, that is, the process by which cells increase their individual mitochondrial mass and copy number to increase the production of ATP as a response to greater energy expenditure.
One of the more interesting finds about the SNP was that it was significantly over represented in stayers over sprinters in general, and moreso in Elite stayers. The SNP forms part of the panel of SNPs that we combine with cardiovascular and biomechanical measurements in our sales selection process.