Association of PPARGC1A Gly428Ser (rs8192678) polymorphism with potential for athletic ability and sports performance: A meta-analysis

BackgroundGenetics plays a role in determining potential for athletic ability (AA) and sports performance (SP). In this study, AA involves comparing sedentary controls with competitive athletes in power and endurance activities as well as a mix between the two (SP). However, variable results from genetic association studies warrant a meta-analysis to obtain more precise estimates of the association between PPARGC1A Gly482Ser polymorphism and AA/SP.MethodsMulti-database literature search yielded 14 articles (16 studies) for inclusion. Pooled odds ratios (ORs) and 95% confidence intervals (CI) were used to estimate associations. Summary effects were modified based on statistical power. Subgroup analysis was based on SP (power, endurance and mixed) and race (Caucasians and Asians). Heterogeneity was assessed with the I2 metric and its sources examined with outlier analysis which dichotomized our findings into pre- (PRO) and post-outlier (PSO).ResultsGly allele effects significantly favoring AA/SP (OR > 1.0, P 2 = 0%); (ii) initially homogeneous power SP (ORs 1.22–1.25, 95% CI 1.05–1.44, P = 0.003–0.008, I2 = 0%) which precluded outlier treatment; (iii) PRO Caucasian outcomes (ORs 1.29–1.32, 95% CI 1.12–1.54, P = 0.0005) over that of Asians with a pooled null effect (OR 0.99, 95% CI 0.72–1.99, P = 0.53–0.92) and (iv) homogeneous all > 80% (ORs 1.19–1.38, 95% CI 1.05–1.66, P = 0.0007–0.007, I2 = 0%) on account of high statistical power (both study-specific and combined). In contrast, none of the Ser allele effects significantly favored AA/SP and no Ser-Gly genotype outcome favored AA/SP. The core significant outcomes were robust and showed no evidence of publication bias.ConclusionMeta-analytical applications in this study generated evidence that show association between the Gly allele and AA/SP. These were observed in the overall, Caucasians and statistically powered comparisons which exhibited consistent significance, stability, robustness, precision and lack of bias. Our central findings rest on association of the Gly allele with endurance and power, differentially favoring the latter over the former.

背景 遗传学是影响竞技能力（Athletic Ability, AA）与运动表现（Sports Performance, SP）潜能的关键因素。本研究中，AA指久坐对照组与参与力量、耐力项目及混合类项目的竞技运动员之间的对照比较，SP即运动表现。现有遗传关联研究结果存在不一致，因此亟需开展荟萃分析以更精准地估计PPARGC1A Gly482Ser多态性与AA/SP之间的关联效应。
方法 经多数据库文献检索，共纳入14篇文献（合计16项研究）。采用合并比值比（odds ratio, OR）及95%置信区间（confidence interval, CI）评估关联效应，合并效应量根据统计效力进行校正。亚组分析按SP类型（力量、耐力及混合类项目）与种族（高加索人群、亚洲人群）进行划分。采用I²统计量评估研究间异质性，并通过异常值分析探究异质性来源，将研究结果划分为异常值前（pre-outlier, PRO）与异常值后（post-outlier, PSO）两组。
结果 (i) 总体队列分析显示，Gly等位基因可显著促进AA/SP（OR>1.0，P<0.0001，I²=0%）；(ii) 初始同质的力量类SP亚组（OR 1.22~1.25，95%CI 1.05~1.44，P=0.003~0.008，I²=0%），无需进行异常值处理；(iii) 高加索人群异常值前分析结果（OR 1.29~1.32，95%CI 1.12~1.54，P=0.0005）显著优于亚洲人群，后者合并效应量为无效（OR=0.99，95%CI 0.72~1.99，P=0.53~0.92）；(iv) 统计效力≥80%的亚组同样显示同质效应（OR 1.19~1.38，95%CI 1.05~1.66，P=0.0007~0.007，I²=0%），该结果源于研究自身及整体合并分析均具备较高统计效力。与之相反，Ser等位基因及Ser-Gly基因型均未对AA/SP表现出显著促进作用。核心显著结果稳健可靠，未发现发表偏倚证据。
结论 本研究通过荟萃分析证实，Gly等位基因与AA/SP存在显著关联。该关联在总体人群、高加索人群及高统计效力的亚组分析中均表现出一致性显著、稳定性佳、稳健性强、精准度高且无偏倚的特点。本研究核心结论为：Gly等位基因与耐力及力量类运动表现均存在关联，且对力量类项目的促进作用更显著。