The association of HFE gene H63D polymorphism with endurance athlete status and aerobic capacity: novel findings and a meta-analysis

Ekaterina A. Semenova, Eri Miyamoto-Mikami, Egor B. Akimov, Fatima Al-Khelaifi, Haruka Murakami, Hirofumi Zempo, Elena S. Kostryukova, Nikolay A. Kulemin, Andrey K. Larin, Oleg V. Borisov, Motohiko Miyachi, Daniil V. Popov, Eugenia A. Boulygina, Mizuki Takaragawa, Hiroshi Kumagai, Hisashi Naito, Vladimir P. Pushkarev, Dmitry A. Dyatlov, Eugene V. Lekontsev, Yuliya E. PushkarevaLiliya B. Andryushchenko, Mohamed A. Elrayess, Edward V. Generozov, Noriyuki Fuku, Ildus I. Ahmetov*


研究成果: Article査読

24 被引用数 (Scopus)


Purpose: Iron is an important component of the oxygen-binding proteins and may be critical to optimal athletic performance. Previous studies have suggested that the G allele of C/G rare variant (rs1799945), which causes H63D amino acid replacement, in the HFE is associated with elevated iron indexes and may give some advantage in endurance-oriented sports. The aim of the present study was to investigate the association between the HFE H63D polymorphism and elite endurance athlete status in Japanese and Russian populations, aerobic capacity and to perform a meta-analysis using current findings and three previous studies. Methods: The study involved 315 international-level endurance athletes (255 Russian and 60 Japanese) and 809 healthy controls (405 Russian and 404 Japanese). Genotyping was performed using micro-array analysis or by PCR. VO2max in 46 male Russian endurance athletes was determined using gas analysis system. Results: The frequency of the iron-increasing CG/GG genotypes was significantly higher in Russian (38.0 vs 24.9%; OR 1.85, P = 0.0003) and Japanese (13.3 vs 5.0%; OR 2.95, P = 0.011) endurance athletes compared to ethnically matched controls. The meta-analysis using five cohorts (two French, Japanese, Spanish, and Russian; 586 athletes and 1416 controls) showed significant prevalence of the CG/GG genotypes in endurance athletes compared to controls (OR 1.96, 95% CI 1.58–2.45; P = 1.7 × 10–9). Furthermore, the HFE G allele was associated with high V̇O2max in male athletes [CC: 61.8 (6.1), CG/GG: 66.3 (7.8) ml/min/kg; P = 0.036]. Conclusions: We have shown that the HFE H63D polymorphism is strongly associated with elite endurance athlete status, regardless ethnicities and aerobic capacity in Russian athletes.

ジャーナルEuropean Journal of Applied Physiology
出版ステータスPublished - 2020 3月 1

ASJC Scopus subject areas

  • 整形外科およびスポーツ医学
  • 公衆衛生学、環境および労働衛生
  • 生理学(医学)


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