Eighty percent of French sport winners in Olympic, World and Europeans competitions have mutations in the hemochromatosis HFE gene

Hermine, Olivier; Dine, G.; Genty, V.; Marquet, Laurie-Anne; Fumagalli, G.; Tafflet, Muriel; Guillem, Flavia; Lierde, F. Van; Rousseaux‐Blanchi, Marie‐Philippe; Palierne, Christian; Lapostolle, Jean-Claude; Cervetti, Jean-Pierre; Frey, A.; Jouven, Xavier; Noirez, Philippe; Toussaint, Jean‐François

doi:10.1016/j.biochi.2015.09.028

Cited by 30 publications

(18 citation statements)

References 19 publications

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“…In accordance with this data, the frequency of the C/G genotype was significantly higher in 65 professional Spanish endurance athletes (50 road cyclists and 15 endurance runners) in comparison with controls (41.5 vs 24.6%, P = 0.01) (Chicharro et al 2004). Finally, Hermine et al (2015) have found that the frequency of CG/ GG genotypes was significantly higher in the group of French elite athletes compared to controls (38% vs 21.9%, P = 0.0019). Although these findings in West European populations support the hypothesis that the iron-increasing HFE rs1799945 G allele is favorable for endurance performance, replication studies in different ethnic groups using different designs are warranted.…”

Section: Introductionsupporting

confidence: 82%

“…Multi-database literature search yielded three eligible studies involving endurance athletes that were genotyped for the HFE gene H63D polymorphism. These involved 77 French elite road cyclists and 254 controls (Deugnier et al 2002); 65 Spanish highly trained athletes (50 professional road cyclists and 15 Olympic class endurance runners) and 134 controls (sedentary men from Spain) (Chicharro et al 2004) and 129 French elite athletes (Nordic skiing, rowing, fighting) and 219 controls (Hermine et. al.…”

Section: Meta-analysismentioning

confidence: 99%

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

et al. 2020

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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. VO 2max 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 VȮ 2max 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. Keywords Gene • Genotype • Hemochromatosis • Endurance performance • Athletes Abbreviations CI Confidence intervals DNA Deoxyribonucleic acid EDTA Ethylenediaminetetraacetic acid GWAS Genome-wide association studies HFE Homeostatic iron regulator (hemochromatosis gene) HH Hereditary hemochromatosis HWE Hardy-Weinberg equilibrium PCR Polymerase chain reaction RFLP Restriction fragment length polymorphism SNP Single-nucleotide polymorphism STREGA Strengthening the reporting of genetic association TFRC Transferrin receptor VȮ 2max Maximal oxygen consumption Communicated by Michael Lindinger.

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Section: Introductionsupporting

confidence: 82%

Section: Meta-analysismentioning

confidence: 99%

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

et al. 2020

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“…Of note, an increased haematocrit and haemoglobin level has been observed in HFE ‐knockout mice compared with HFE ‐wt mice, suggesting that HFE mutations might stimulate, or at least facilitate, the synthesis of red blood cells (Ramos et al , ). Finally, high HFE mutation rates (80%) have been reported in elite French athletes in comparison with the general population (27%), suggesting that iron availability may enhance performance through an improvement in erythropoiesis during endurance sports (Hermine et al , ).…”

Section: Laboratory Datamentioning

confidence: 99%

High HFE mutation incidence in idiopathic erythrocytosis

et al. 2018

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“…A recent study demonstrated that 80% of successful French athletes carry a heterozygous HFE mutation (C282Y, H63D or S65C) suggesting that the resulting enhanced iron supply during physical activity accounts for the superior physical performance of these sportsmen. 110 Large-scale studies among the Sicilian population further showed that HFE C282Y heterozygous individuals, particularly women, have a significantly increased life expectancy compared to controls. 111,112 A trend towards an extended life span has also been observed in Sardinian women carrying the H63D mutation.…”

Section: Introductionmentioning

confidence: 99%

Pathophysiological consequences and benefits of HFE mutations: 20 years of research

Hollerer

Bachmann²,

Muckenthaler

2017

Haematologica

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Mutations in the HFE (hemochromatosis) gene cause hereditary hemochromatosis, an iron overload disorder that is hallmarked by excessive accumulation of iron in parenchymal organs. The HFE mutation p.Cys282Tyr is pathologically most relevant and occurs in the Caucasian population with a carrier frequency of up to 1 in 8 in specific European regions. Despite this high prevalence, the mutation causes a clinically relevant phenotype only in a minority of cases. In this review, we summarize historical facts and recent research findings about hereditary hemochromatosis, and outline the pathological consequences of the associated gene defects. In addition, we discuss potential advantages of HFE mutations in asymptomatic carriers.

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Eighty percent of French sport winners in Olympic, World and Europeans competitions have mutations in the hemochromatosis HFE gene

Cited by 30 publications

References 19 publications

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

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

High HFE mutation incidence in idiopathic erythrocytosis

Pathophysiological consequences and benefits of HFE mutations: 20 years of research

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