Recent large genome-wide association studies (GWAS) have independently identified a set of genetic loci associated with lean body mass (LBM) and handgrip strength (HGS). Evaluation of these candidate single-nucleotide polymorphisms (SNPs) may be useful to investigate genetic traits of populations at higher or lower risk of muscle dysfunction. As such, we investigated associations between six SNPs linked to LBM or HGS in a population of elite master athletes (MA) and age-matched controls as a representative population of older individuals with variable maintenance of muscle mass and function. Genomic DNA was isolated from buffy coat samples of 96 individuals [consisting of 48 MA (71 ± 6 yr, age-graded performance 83 ± 9%) and 48 older controls (75 ± 6 yr)]. SNP validation and sample genotyping were conducted using the tetra-primer amplification refractory mutation system (ARMS). For the three SNPs analyzed that were previously associated with LBM (FTO, IRS1, and ADAMTSL3), multinomial logistic regression revealed a significant association of the ADAMTSL3 genotype with %LBM (P < 0.01). For the three HGS-linked SNPs, neither GBF1 nor GLIS1 showed any association with HGS, but for TGFA, multinomial logistic regression revealed a significant association of genotype with HGS (P < 0.05). For ADAMTSL3, there was an enrichment of the effect allele in the MA (P < 0.05, Fisher's exact test). Collectively, of the six SNPs analyzed, ADAMTSL3 and TGFA showed significant associations with LBM and HGS, respectively. The functional relevance of the ADAMTSL3 SNP in body composition and of TGFA in strength may highlight a genetic component of the elite MA phenotype.

中文翻译：

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精英运动员中 GWAS 衍生的瘦体重和握力相关单核苷酸多态性的靶向基因型分析。

最近的大型全基因组关联研究 (GWAS) 已经独立确定了一组与瘦体重 (LBM) 和握力 (HGS) 相关的基因位点。评估这些候选单核苷酸多态性 (SNP) 可能有助于研究肌肉功能障碍风险较高或较低的人群的遗传特征。因此，我们调查了精英运动员 (MA) 群体中与 LBM 或 HGS 相关的六个 SNP 与年龄匹配的对照组之间的关联，这些 SNP 作为具有可变肌肉质量和功能维持的老年人群的代表群体。从 96 个人的血沉棕黄层样本中分离基因组 DNA [包括 48 MA（71 ± 6 岁，年龄分级表现 83 ± 9%）和 48 名较老的对照（75 ± 6 岁）]。使用四引物扩增难治突变系统 (ARMS) 进行 SNP 验证和样品基因分型。对于之前分析的与 LBM 相关的三个 SNP（FTO、IRS1 和 ADAMTSL3），多项逻辑回归显示 ADAMTSL3 基因型与 %LBM 显着相关（P < 0.01）。对于三个与 HGS 相关的 SNP，GBF1 和 GLIS1 均未显示出与 HGS 的任何关联，但对于 TGFA，多项逻辑回归显示基因型与 HGS 显着关联（P < 0.05）。对于 ADAMTSL3，MA 中的效应等位基因富集（P < 0.05，Fisher 精确检验）。总的来说，在所分析的六个 SNP 中，ADAMTSL3 和 TGFA 分别显示出与 LBM 和 HGS 的显着关联。