Transmission Distortion of MCT1 rs1049434 among Polish Elite Athletes

Dzitkowska-Zabielska, Magdalena; Bojarczuk, Aleksandra; Borczyk, Małgorzata; Piechota, Marcin; Korostyński, Michał; Adamczyk, Jakub Grzegorz; Trybek, Grzegorz; Massidda, Myosotis

doi:10.3390/genes13050870

Cited by 2 publications

(3 citation statements)

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“…All WGS data analyses were performed with Hail (v. 0.2.85) [ 29 ]. WGS and quality control (QC) was performed as described previously [ 30 ]. For this study, after QC whole-genome .vcf files were filtered to contain variants only in MSTN (40 variants), ACVR2A (200 variants), and ACVR2B (152 variants).…”

Section: Methodsmentioning

confidence: 99%

Genetic variants in myostatin and its receptors promote elite athlete status

Leońska-Duniec,

Borczyk,

Korostyński

et al. 2023

BMC Genomics

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Background While product of the myostatin gene (MSTN) is an important factor influencing muscle growth, which is well confirmed in nonhuman species, it has not been clearly confirmed whether MSTN expression influences interindividual differences in skeletal muscle mass, affects posttraining changes, or plays a role in the age-related loss of muscle mass and function in humans. Although the inconclusive results are usually explained by ethnic differences and the low frequency of some alleles, it is possible that the role of receptors (ACVR2A and ACVR2B) that affect the biological activity of myostatin is crucial. Therefore, we investigated the sequences of the MSTN, ACVR2A, and ACVR2B genes and determined the interaction between allelic variants and athletic performance and competition level in the Caucasian population. One hundred-two athletes were recruited for the sequencing study, and whole-genome sequencing (WGS) was performed. Second, 330 athletes and 365 controls were included, and real-time PCR was performed. Results The sequence analysis revealed two polymorphisms relatively common in the athlete cohort, and the alternate allele showed overrepresentation in athletes: MSTN rs11333758 and ACVR2A rs3764955. Regarding the polymorphic site MSTN rs11333758, there was a significant overrepresentation of the –/– genotype in all high-elite and mixed-sport high-elite athletes. Carriers of the ACVR2A rs3764955 CC and GG genotypes were more likely to be elite and high-elite athletes. In addition, carriers of the CC genotype were more likely to be in the mixed-sport subelite group. The gene‒gene interaction analysis revealed that mixed-sport high elite athletes showed significant underrepresentation of the ACVR2A rs3764955 GC - MSTN rs11333758 AA genotype combination. In the same group, we observed a significant overrepresentation of the ACVR2A rs3764955 GC - MSTN rs11333758 –/– and the ACVR2A rs3764955 CC - MSTN rs11333758 –/– genotype combinations. Conclusions We showed that the specific genotypes of the MSTN rs11333758 and ACVR2A rs3764955, either individually or in gene‒gene combination, are significantly associated with athletes’ competition level in the Polish population, especially in the mixed-sports athlete group. Thus, although further research is required, these polymorphisms, alone or in combination with other polymorphisms, are among the numerous candidates that could explain individual variations in muscle phenotypes.

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Section: Methodsmentioning

confidence: 99%

Genetic variants in myostatin and its receptors promote elite athlete status

Leońska-Duniec,

Borczyk,

Korostyński

et al. 2023

BMC Genomics

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“…From 7 articles that met the inclusion criteria related to MCT1 gene polymorphism, 1392 endurance athletes and 3834 controls have been included in the study (Ben Zaken et al 2015 ; Dzitkowska-Zabielska et al 2022 ; Fedotovskaya et al 2014 ; Guilherme et al 2021 ; Piscina-Viúdez et al 2021 ; Saito et al 2021 ; Sawczuk et al 2015 ). When analyzing the MCT1 (rs1049434) SNP genotypes, the overall analysis showed that endurance athletes [OR: 0.17 [0.02; 0.32]] and Caucasian athletes in the subgroup [OR: 0.42 [0.26; 0.58]] had a higher frequency of the T/T genotype ( p < 0.05).…”

Section: Resultsmentioning

confidence: 99%

“…The MCT1 gene (monocarboxylate transporter 1), also known as SLC16A1, is a member of metabolic genes (Dzitkowska-Zabielska et al 2022 ). The MCT1 gene encodes a cotransport that carries blood lactate to type I muscle fibers in oxidative muscle fibers (Saito et al 2021 ).…”

Section: Introductionmentioning

confidence: 99%

Examining the relationship between genetic polymorphisms (BDKRB2, GNB3, HIF1A, MCT1, NOS3) and endurance athlete status

İpekoğlu,

Apaydın,

Çetin

et al. 2024

Eur J Appl Physiol

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Purpose Genetic factors are important in terms of athletic performance. Recent studies to determine the relationship between the genes that lead to physiological responses have attracted attention. In this respect, this meta-analysis study was designed to examine the relationship between genetic polymorphism (BDKRB2 rs5810761, GNB3 rs5443, HIF1A rs11549565, MCT1 rs1049434, NOS3 rs2070744) and endurance athlete’s status. Methods The search included studies published from 2009 to 2022. To determine the relevant studies, Pubmed, Web of Science databases were systematically scanned. Only case-control studies were included in the meta-analysis. To determine the relevant studies, Pubmed, Web of Science databases were systematically scanned, and a total of 31 studies met the criteria for inclusion in the meta-analysis. Relevant data from the included studies were collected and analyzed using a random effects or fixed effects model. The effect size was calculated as the odds ratio or a risk ratio the corresponding 95% confidence intervals. Results According to the results of the analysis, BDKRB2 rs5810761 + 9 allele, and NOS3 rs2070744 T allele were significantly more prevalent in endurance athletes (p < 0.05). Genotype distributions of BDKRB2 rs5810761, MCT1 rs1049434, and NOS3 rs2070744 showed significant differences in the dominant model (p < 0.05). However, no significant association was found between endurance athlete status and GNB3 rs5443 and HIF1A rs11549465 polymorphisms. Conclusion These results show that some gene polymorphisms play an important role in endurance athlete status and suggest that having a specific genetic basis may also confer a physiological advantage for performance.

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Transmission Distortion of MCT1 rs1049434 among Polish Elite Athletes

Cited by 2 publications

References 50 publications

Genetic variants in myostatin and its receptors promote elite athlete status

Genetic variants in myostatin and its receptors promote elite athlete status

Examining the relationship between genetic polymorphisms (BDKRB2, GNB3, HIF1A, MCT1, NOS3) and endurance athlete status

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