PDF(Pubmed)
Abstract：
The aim of the study was to identify genetic variants associated with personal best scores in Turkish track and field athletes and to compare allelic frequencies between sprint/power and endurance athletes and controls using a whole-exome sequencing (WES) approach, followed by replication studies in independent cohorts. The discovery phase involved 60 elite Turkish athletes (31 sprint/power and 29 endurance) and 20 ethnically matched controls. The replication phase involved 1132 individuals (115 elite Russian sprinters, 373 elite Russian endurance athletes (of which 75 athletes were with VO2max measurements), 209 controls, 148 Russian and 287 Finnish individuals with muscle fiber composition and cross-sectional area (CSA) data). None of the single nucleotide polymorphisms (SNPs) reached an exome-wide significance level (p < 2.3 × 10-7) in genotype-phenotype and case-control studies of Turkish athletes. However, of the 53 nominally (p < 0.05) associated SNPs, four functional variants were replicated. The SIRT1 rs41299232 G allele was significantly over-represented in Turkish (p = 0.047) and Russian (p = 0.018) endurance athletes compared to sprint/power athletes and was associated with increased VO2max (p = 0.037) and a greater proportion of slow-twitch muscle fibers (p = 0.035). The NUP210 rs2280084 A allele was significantly over-represented in Turkish (p = 0.044) and Russian (p = 0.012) endurance athletes compared to sprint/power athletes. The TRPM2 rs1785440 G allele was significantly over-represented in Turkish endurance athletes compared to sprint/power athletes (p = 0.034) and was associated with increased VO2max (p = 0.008). The AGRN rs4074992 C allele was significantly over-represented in Turkish sprint/power athletes compared to endurance athletes (p = 0.037) and was associated with a greater CSA of fast-twitch muscle fibers (p = 0.024). In conclusion, we present the first WES study of athletes showing that this approach can be used to identify novel genetic markers associated with exercise- and sport-related phenotypes.
摘要：
该研究的目的是确定与土耳其田径运动员个人最佳成绩相关的遗传变异，并使用全外显子组测序（WES）方法比较短跑/力量和耐力运动员与对照组之间的等位基因频率。随后是独立队列中的复制研究。发现阶段涉及60名土耳其精英运动员（31个短跑/力量和29个耐力）和20个种族匹配的控制。复制阶段涉及1132个人（115名俄罗斯精英短跑运动员，373名俄罗斯优秀耐力运动员（其中75名运动员进行了VO2max测量），209个控件，148名俄罗斯人和287名芬兰人具有肌肉纤维组成和横截面积（CSA）数据）。在土耳其运动员的基因型表型和病例对照研究中，单核苷酸多态性（SNP）均未达到外显子组范围的显着性水平（p<2.3×10-7）。然而,在53个名义上(p<0.05)相关的SNP中，复制了四个功能性变体。与短跑/强力运动员相比，土耳其（p=0.047）和俄罗斯（p=0.018）耐力运动员中SIRT1rs41299232G等位基因显着过度代表，并且与增加的VO2max（p=0.037）和更大比例相关慢抽搐肌纤维（p=0.035）。与短跑/强力运动员相比，NUP210rs2280084A等位基因在土耳其（p=0.044）和俄罗斯（p=0.012）耐力运动员中明显超标。与短跑/强力运动员相比，土耳其耐力运动员中的TRPM2rs1785440G等位基因显着超标（p=0.034），并且与VO2max增加有关（p=0.008）。与耐力运动员相比，AGRNrs4074992C等位基因在土耳其短跑/强力运动员中的代表明显过多（p=0.037），并且与快速抽搐肌纤维的CSA更大（p=0.024）相关。总之,我们提出了第一项针对运动员的WES研究,表明该方法可用于鉴定与运动和运动相关表型相关的新型遗传标记.
