Polymorphisms in the<i>HBB</i>gene relate to individual cardiorespiratory adaptation in response to endurance training

He, Zhiwei; Hu, Yang; Feng, Lianshi; Lu, Yu; Liu, G; Xi, Yue; Wen, Li; Xu, Xiaoyin; Xu, Kang

doi:10.1136/bjsm.2006.030866

Cited by 19 publications

(14 citation statements)

References 39 publications

(30 reference statements)

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“…Nine articles [ 20 – 28 ] used data from the HERITAGE study and five [ 29 – 33 ] reviewed Caucasian participant data from the Cardiac Rehabilitation and Genetics of Exercise Performance and Training Effect (CARAGENE) study. Five studies examined clinical data from 102 young male and apparently healthy police recruits in China [ 34 – 38 ]. The remaining samples came from independent clinical studies focusing on apparently healthy but sedentary adults from a variety of ethnicities including Caucasians, Asians, African-Americans, Native American and Hispanics [ 13 , 39 – 53 ].…”

Section: Resultsmentioning

confidence: 99%

“…Two studies examined protocols using High Intensity Interval Training (HIIT) [ 28 , 40 ]. The 5 remaining studies trained participants by running at Ventilatory Threshold (VT) [ 34 – 38 ]. Training intensity was measured using a percentage of VO 2max , Heart Rate Reserve (HRR), VT, Maximal Power (P max ) or Maximum Heart Rate (HR max ).…”

Section: Resultsmentioning

confidence: 99%

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Genes to predict VO2max trainability: a systematic review

et al. 2017

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BackgroundCardiorespiratory fitness (VO2max) is an excellent predictor of chronic disease morbidity and mortality risk. Guidelines recommend individuals undertake exercise training to improve VO2max for chronic disease reduction. However, there are large inter-individual differences between exercise training responses. This systematic review is aimed at identifying genetic variants that are associated with VO2max trainability.MethodsPeer-reviewed research papers published up until October 2016 from four databases were examined. Articles were included if they examined genetic variants, incorporated a supervised aerobic exercise intervention; and measured VO2max/VO2peak pre and post-intervention.ResultsThirty-five articles describing 15 cohorts met the criteria for inclusion. The majority of studies used a cross-sectional retrospective design. Thirty-two studies researched candidate genes, two used Genome-Wide Association Studies (GWAS), and one examined mRNA gene expression data, in addition to a GWAS. Across these studies, 97 genes to predict VO2max trainability were identified. Studies found phenotype to be dependent on several of these genotypes/variants, with higher responders to exercise training having more positive response alleles than lower responders (greater gene predictor score). Only 13 genetic variants were reproduced by more than two authors. Several other limitations were noted throughout these studies, including the robustness of significance for identified variants, small sample sizes, limited cohorts focused primarily on Caucasian populations, and minimal baseline data. These factors, along with differences in exercise training programs, diet and other environmental gene expression mediators, likely influence the ideal traits for VO2max trainability.ConclusionNinety-seven genes have been identified as possible predictors of VO2max trainability. To verify the strength of these findings and to identify if there are more genetic variants and/or mediators, further tightly-controlled studies that measure a range of biomarkers across ethnicities are required.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Genes to predict VO2max trainability: a systematic review

et al. 2017

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“…In turn, intron 2 +16 C/G of this gene may lead to different expression, because it is in the alternative splicing region of mRNA [11, 23]. Simultaneously, it is suggested that the homozygous CC for both polymorphisms could have a higher haemoglobin concentration [11].…”

Section: Discussionmentioning

confidence: 99%

NO ASSOCIATION BETWEEN tHbmass AND POLYMORPHISMS IN THE HBB GENE IN ENDURANCE ATHLETES

Malczewska-Lenczowska¹,

Orysiak²,

Majorczyk³

et al. 2014

Biol Sport

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The aim of this study was to examine the association between tHbmass and HBB gene polymorphisms in athletes of endurance disciplines. Eighty-two well-trained athletes (female n=36, male n=46), aged 19.3 ± 2.7 years, representing cross country skiing (n=37) and middle- and long-distance running (n=45), participated in the study. Genotyping for 2 polymorphisms in the HBB gene (- 551C/T and intron 2, +16 C/G) was performed using restriction fragment length polymorphism analysis. Total haemoglobin mass (tHbmass) was determined by the optimized carbon monoxide rebreathing method. Blood morphology, indices of iron status (ferritin, transferrin receptor and total iron binding capacity) and C reactive protein were also determined. No differences were found in the HBB genotype and allele frequencies between male and female athletes. Regardless of the polymorphisms, no relationships were found between HBB genotypes as well as alleles and relative values of tHbmass, expressed per body mass (g · kg-1 BM), both in female and male athletes. Our results demonstrated that -551 C/T and intron 2, +16 C/G polymorphisms of the HBB gene have no association with total haemoglobin mass in endurance athletes. It cannot be ruled out that several polymorphisms, each with a small but significant contribution, may be responsible for the amount of haemoglobin.

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“…The haemoglobin plays a crucial role in endurance performance, because the increase in its concentration in blood is associated with enhanced VO2 max and endurance capacity, which is also proportional to the increase in the oxygen carrying capacity of the blood. Subjects homozygous for intron2, +16C/C or -551C/C in the haemoglobin gene have decreased oxygen cost of running, thus explaining part of the individual variation in the cardiorespiratory adaptation to endurance training 171 . Three quantitative trait loci have been related to glucose and insulin metabolism phenotypes in response to endurance training exercise.…”

Section: Other Gene Related To Fitness Phenotypementioning

confidence: 99%

The genetics of sports injuries and athletic performance

Maffulli

Marigotti

Longo

et al. 2019

Muscle Ligaments and Tendons J

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Purpose: in the last two decades, several evidences have been provided to support the relationship between single nucleotide polymorphisms and the susceptibility to develop injuries participating in sport and performance related to sports activity. We report up-to-date review of the genetics factors involved in tendon injuries and athletic performance. Methods: we searched PubMed using the terms "sports injuries", "athletic performance" and "genetics" over the period 1990 to the present day. We also included non-English journals. Results: most of the currently established or putative tendinopathy susceptibility loci have been analyzed by candidate gene studies. The genes currently associated with tendon injuries include gene encoding for collagen, matrix metallopeptidase, tenascin and growth factors. Several genes have been related to the physical performance phenotypes affecting endurance capacity and muscle performance. The most studied include ACE and ACTN3 genes. Conclusions: genetics determines the response of an individual to the surrounding environment. Recently, some of the individual genetic variations contributing to the athletic performance and the onset of musculoskeletal injuries, particularly in tendon and ligament tissues, have been identified. However, the identification of the genetic background related to susceptibility to injuries and physical performance of the athletes is challenging yet and further studies must be performed to establish the specific role of each gene and the potential effect of the interaction of these.

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Polymorphisms in theHBBgene relate to individual cardiorespiratory adaptation in response to endurance training

Cited by 19 publications

References 39 publications

Genes to predict VO2max trainability: a systematic review

Genes to predict VO2max trainability: a systematic review

NO ASSOCIATION BETWEEN tHbmass AND POLYMORPHISMS IN THE HBB GENE IN ENDURANCE ATHLETES

The genetics of sports injuries and athletic performance

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