Tozaki T, Miyake T, Kakoi H, Gawahara H, Sugita S, Hasegawa T, Ishida N, Hirota K, Nakano Y
Department of Molecular Genetics, Laboratory of Racing Chemistry, Utsunomiya, Tochigi, Japan.
Anim Genet. 2010 Dec;41 Suppl 2:28-35. doi: 10.1111/j.1365-2052.2010.02095.x.
Using 1400 microsatellites, a genome-wide association study (GWAS) was performed to identify genomic regions associated with lifetime earnings and performance ranks, as determined by the Japan Racing Association (JRA). The minimum heritability (h(2) ) was estimated at 7-8% based on the quantitative trait model, suggesting that the racing performance is heritable. Following GWAS with microsatellites, fine mapping led to identification of three SNPs on ECA18, namely, g.65809482T>C (P=1.05E-18), g.65868604G>T (P=6.47E-17), and g.66539967A>G (P=3.35E-14) associated with these performance measures. The haplotype of these SNPs, together with a recently published nearby SNP, g.66493737C>T (P=9.06E-16) in strong linkage disequilibrium, also showed a very clear association with the performance (P<1E-05). The candidate genomic region contained eight genes annotated by ENSEMBL, including the myostatin gene (MSTN). These findings suggest the presence of a gene affecting the racing performance in Thoroughbred racehorses in this region on ECA18.
利用1400个微卫星进行了全基因组关联研究（GWAS），以确定与终身收入和由日本赛马协会（JRA）确定的性能排名相关的基因组区域。基于数量性状模型，估计最小遗传力（h(2)）为7-8%，这表明赛马性能是可遗传的。在使用微卫星进行GWAS之后，精细定位导致在ECA18上鉴定出三个单核苷酸多态性（SNP），即g.65809482T>C（P=1.05E-18）、g.65868604G>T（P=6.47E-17）和g.66539967A>G（P=3.35E-）与这些性能指标相关。这些SNP的单倍型，连同最近发表的附近一个处于强连锁不平衡状态的SNP g.66493737C>T（P=9.06E-16）也显示出与性能有非常明显的关联（P<1E-05）。候选基因组区域包含由ENSEMBL注释的八个基因，包括肌肉生长抑制素基因（MSTN）。这些发现表明在ECA18上的这个区域存在一个影响纯种赛马比赛性能的基因。
