Department of Nutritional Sciences, Faculty of Medicine, University of Toronto, Toronto, Ontario, CANADA.
Med Sci Sports Exerc. 2021 Jul 1;53(7):1385-1390. doi: 10.1249/MSS.0000000000002595.
Hereditary hemochromatosis can cause individuals to absorb too much iron from their diet. Higher tissue iron content, below the threshold of toxicity, may enhance oxygen carrying capacity and offer a competitive advantage. Single nucleotide polymorphisms (SNP) in the homeostatic iron regulator (HFE) gene have been shown to modify iron metabolism and can be used to predict an individual's risk of hemochromatosis. Several studies have shown that HFE genotypes are associated with elite endurance athlete status; however, no studies have examined whether HFE genotypes are associated with endurance performance.
The objectives of this study were to determine whether there was an association between HFE risk genotypes (rs1800562 and rs1799945) and endurance performance in a 10-km cycling time trial as well as maximal oxygen uptake (V˙O2peak), an indicator of aerobic capacity.
Competitive male athletes (n = 100; age = 25 ± 4 yr) completed a 10-km cycling time trial. DNA was isolated from saliva and genotyped for the rs1800562 (C282Y) and rs1799945 (H63D) SNP in HFE. Athletes were classified as low risk (n = 88) or medium/high risk (n = 11) based on their HFE genotype for both SNP using an algorithm. ANCOVA was conducted to compare outcome variables between both groups.
Individuals with the medium- or high-risk genotype were ~8% (1.3 min) faster than those with the low-risk genotype (17.0 ± 0.8 vs 18.3 ± 0.3 min, P = 0.05). V˙O2peak was ~17% (7.9 mL·kg-1⋅min-1) higher in individuals with the medium- or high-risk genotype compared with those with the low-risk genotype (54.6 ± 3.2 vs 46.7 ± 1.0 mL·kg-1⋅min-1, P = 0.003).
Our findings show that HFE risk genotypes are associated with improved endurance performance and increased V˙O2peak in male athletes.
遗传性血色素沉着症可导致个体从饮食中吸收过多的铁。组织中铁含量升高（低于毒性阈值），可能增强携氧能力并带来竞争优势。铁稳态调节因子（HFE）基因中的单核苷酸多态性（SNP）已被证明可调节铁代谢，并可用于预测个体患血色素沉着症的风险。有几项研究表明，HFE 基因型与精英耐力运动员的身份有关；然而，尚无研究检查 HFE 基因型是否与耐力表现有关。
本研究旨在确定 HFE 风险基因型（rs1800562 和 rs1799945）与 10km 自行车计时赛以及最大摄氧量（V˙O2peak）——有氧能力的一个指标——之间是否存在关联。
100 名竞技男性运动员（年龄=25±4 岁）完成了 10km 自行车计时赛。从唾液中提取 DNA，对 HFE 中的 rs1800562（C282Y）和 rs1799945（H63D）SNP 进行基因分型。根据 SNP 的 HFE 基因型，使用算法将运动员分为低风险（n=88）或中/高风险（n=11）。采用协方差分析比较两组间的结果变量。
中/高风险基因型个体比低风险基因型个体快约 8%（1.3 分钟）（17.0±0.8 比 18.3±0.3 分钟，P=0.05）。中/高风险基因型个体的 V˙O2peak 比低风险基因型个体高约 17%（7.9mL·kg-1·min-1）（54.6±3.2 比 46.7±1.0mL·kg-1·min-1，P=0.003）。
本研究结果表明，HFE 风险基因型与男性运动员耐力表现的提高和 V˙O2peak 的增加有关。
