Department of Molecular Genetics, Laboratory of Racing Chemistry, Utsunomiya, Tochigi, Japan.
Anim Genet. 2012 Feb;43(1):42-52. doi: 10.1111/j.1365-2052.2011.02201.x. Epub 2011 Apr 19.
Using 1710 Thoroughbred racehorses in Japan, a cohort study was performed to evaluate the influence of genotypes at four single nucleotide polymorphisms (SNPs) on equine chromosome 18 (ECA18), which were associated in a previous genome-wide association study for racing performance with lifetime earnings and performance rank. In males, both g.65809482T>C and g.65868604G>T were related to performance rank (P= 0.005). In females, g.65809482T>C (P = 1.76E-6), g.65868604G>T (P=6.81E-6) and g.66493737C>T (P=4.42E-5) were strongly related to performance rank and also to lifetime earnings (P < 0.05). When win-race distance (WRD) among all winning racehorses and best race distance (BRD) among elite racehorses were considered as the phenotypes, significant associations (P<0.001) were observed for all four SNPs. The favourable race distance of both elite (BRD) and novice racehorses (WRD) was also associated with genotypes in the ECA18 region, indicating the presence of a gene in this region influencing optimum race distance in Thoroughbred racehorses. Therefore, the association with performance rank is likely due to the bias in the race distances. The location of the SNPs within and proximal to the gene encoding myostatin (MSTN) strongly suggests that regulation of the MSTN gene affects racing performance. In particular, the g.65809482T>C, g.65868604G>T and g.66493737C>T SNPs, or their combinations, may be genetic diagnostic markers for racing performance indicators such as WRD and BRD.
利用日本的 1710 匹纯种赛马,进行了一项队列研究,以评估与之前全基因组关联研究中赛马表现的终生收入和表现排名相关的四个单核苷酸多态性 (SNP) 对马染色体 18 (ECA18) 的基因型的影响。在雄性中,g.65809482T>C 和 g.65868604G>T 均与表现排名相关 (P=0.005)。在雌性中,g.65809482T>C (P=1.76E-6)、g.65868604G>T (P=6.81E-6) 和 g.66493737C>T (P=4.42E-5) 与表现排名和终生收入密切相关 (P<0.05)。当考虑所有获胜赛马的赢赛距离 (WRD) 和精英赛马的最佳比赛距离 (BRD) 作为表型时,所有四个 SNP 都观察到显著的关联 (P<0.001)。精英赛马 (BRD) 和新手赛马 (WRD) 的有利比赛距离也与 ECA18 区域的基因型相关,表明该区域存在一个影响纯种赛马最佳比赛距离的基因。因此,与表现排名的关联可能是由于比赛距离的偏差所致。SNP 位于肌生成抑制素 (MSTN) 基因的内部和附近,强烈表明 MSTN 基因的调控会影响赛马表现。特别是 g.65809482T>C、g.65868604G>T 和 g.66493737C>T SNP 或其组合,可能是 WRD 和 BRD 等比赛表现指标的遗传诊断标记。