Instituto de Biologia do Exército, Rio de Janeiro, RJ, Brasil.
Centro de Instrução de Operações Especiais do Exército Brasileiro, Rio de Janeiro, RJ, Brasil.
Braz J Med Biol Res. 2021 Apr 26;54(6):e10317. doi: 10.1590/1414-431X202010317. eCollection 2021.
Physical performance is a multifactorial and complex trait influenced by environmental and hereditary factors. Environmental factors alone have been insufficient to characterize all outstanding phenotypes. Recent advances in genomic technologies have enabled the investigation of whole nuclear and mitochondrial genome sequences, increasing our ability to understand interindividual variability in physical performance. Our objective was to evaluate the association of mitochondrial polymorphic loci with physical performance in Brazilian elite military personnel. Eighty-eight male military personnel who participated in the Command Actions Course of the Army were selected. Total DNA was obtained from blood samples and a complete mitochondrial genome (mtDNA) was sequenced using Illumina MiSeq platform. Twenty-nine subjects completed the training program (FINISHED, 'F'), and fifty-nine failed to complete (NOT_FINISHED, 'NF'). The mtDNA from NF was slightly more similar to genomes from African countries frequently related to endurance level. Twenty-two distinct mtDNA haplogroups were identified corroborating the intense genetic admixture of the Brazilian population, but their distribution was similar between the two groups (FST=0.0009). Of 745 polymorphisms detected in the mtDNA, the position G11914A within the NADPH gene component of the electron transport chain, was statistically different between F and NF groups (P=0.011; OR: 4.286; 95%CI: 1.198-16.719), with a higher frequency of the G allele in group F individuals). The high performance of military personnel may be mediated by performance-related genomic traits. Thus, mitochondrial genetic markers such as the ND4 gene may play an important role on physical performance variability.
体能是一个受环境和遗传因素影响的多因素和复杂特征。仅环境因素不足以描述所有杰出的表型。基因组技术的最新进展使我们能够研究整个核和线粒体基因组序列，从而提高了我们理解个体间体能差异的能力。我们的目的是评估线粒体多态性位点与巴西精英军事人员体能的关联。从参加陆军指挥行动课程的 88 名男性军事人员中选择了 88 名男性军事人员。从血液样本中提取总 DNA，并使用 Illumina MiSeq 平台对完整线粒体基因组 (mtDNA) 进行测序。29 名受试者完成了培训计划（完成，'F'），59 名受试者未能完成（未完成，'NF'）。NF 的 mtDNA 与经常与耐力水平相关的非洲国家的基因组更为相似。鉴定出 22 种不同的 mtDNA 单倍群，证实了巴西人口的强烈遗传混合，但两组之间的分布相似（FST=0.0009）。在 mtDNA 中检测到的 745 个多态性中，电子传递链 NADPH 基因成分中的位置 G11914A 在 F 和 NF 组之间存在统计学差异（P=0.011；OR：4.286；95%CI：1.198-16.719），F 组个体中 G 等位基因的频率更高）。军事人员的高表现可能受与表现相关的基因组特征介导。因此，线粒体遗传标记，如 ND4 基因，可能在体能变异性方面发挥重要作用。
