A meta-analysis on the association of ACE and PPARA gene variants and endurance athletic status

İpekoğlu, Gökhan; Bülbül, Alpay; Çakir, Halil İbrahim

doi:10.23736/s0022-4707.21.12417-x

Cited by 7 publications

(9 citation statements)

References 45 publications

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“…Previous studies suggest that individuals with a higher frequency of the ACE DD genotype have greater strength/power than those with genotype II and ID overexpression [ 32 ]. A recent meta-analysis study found that the predominance of ACE genotype II is indicated as advantageous for the performance of individuals aiming for endurance performance [ 33 ]. In contrast, ID genotype is more frequently expressed among athletes who practice sports that require high aerobic activity [ 34 ].…”

Section: Discussionmentioning

confidence: 99%

Association between ACTN3 (R577X), ACE (I/D), BDKRB2 (-9/+9), and AGT (M268T) polymorphisms and performance phenotypes in Brazilian swimmers

de Albuquerque-Neto,

Santos,

Silvino

et al. 2024

BMC Sports Sci Med Rehabil

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Background The influence of genetic polymorphisms on athletic performance has been widely explored. This study investigated the interactions between the polymorphisms ACTN3 (R577X), ACE (I/D), BDKRB2 (-9/+9), and AGT (M/T) and their association with endurance and strength phenotypes in Brazilian swimmers. Methods 123 athletes (aged 20–30 years) and 718 controls participated in the study. The athletes were divided into elite and sub-elite (N = 19 and 104, respectively) and strength and endurance experts (N = 98 and 25, respectively). Hardy-Weinberg equilibrium was observed in all groups. Results Considering the ACE polymorphism, it was observed a higher frequency of the DD genotype than expected in the strength experts of the elite group, whereas the strength experts sub-elite athletes had a higher frequency of the ID genotype (χ2 = 8.17; p = 0.01). Subjects with XX genotypes of ACTN3 are more likely to belong to the athlete group when compared to the control group (OR = 1.79, p = 0.04). The DD homozygotes of the ACE are more likely to belong to the elite group with strength phenotypes than the group of sub-elite (OR = 7.96, p = 0.01) and elite strength experts compared to elite endurance (OR = 18.0, p = 0.03). However, no significant differences were observed in the allelic distribution of the polymorphisms evaluated when comparing Elite, sub-elite athletes and controls. Conclusion ACE and ACTN3 allele frequencies should be considered with regard to performance influencing factors in Brazilian swimmers.

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Section: Discussionmentioning

confidence: 99%

Association between ACTN3 (R577X), ACE (I/D), BDKRB2 (-9/+9), and AGT (M268T) polymorphisms and performance phenotypes in Brazilian swimmers

de Albuquerque-Neto,

Santos,

Silvino

et al. 2024

BMC Sports Sci Med Rehabil

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“…When performing endurance exercise, I allele individuals demonstrate increased capillary perfusion whereas DD individuals show decreased capillary perfusion 92 . Accordingly, a recent meta‐analysis found a significant difference in the ACE I/D genotype distribution (II vs. ID+DD) between 2979 “endurance” athletes (biathlon, cycling, running, rowing, skiing, swimming, and pentathlon) and 10 048 controls (pooled odds ratio [95%CI]: 1.48 [0.30–2.67]) 93 . Another meta‐analysis from 2013 also reported that the II genotype was higher in “endurance” athletes (cycling, gymnastics, hockey, rowing, skiing, swimming, and running) compared with controls (II vs. ID+DD) (pooled odds ratio [95%CI]: 1.35 [1.17–1.55]) 12 .…”

Section: Discussionmentioning

confidence: 99%

“…92 Accordingly, a recent meta-analysis found a significant difference in the ACE I/D genotype distribution (II vs. ID+DD) between 2979 "endurance" athletes (biathlon, cycling, running, rowing, skiing, swimming, and pentathlon) and 10 048 controls (pooled odds ratio [95%CI]: 1.48 [0.30-2.67]). 93 Another meta-analysis from 2013 also reported that the II genotype was higher in "endurance" athletes (cycling, gymnastics, hockey, rowing, skiing, swimming, and running) compared with controls (II vs. ID+DD) (pooled odds ratio [95%CI]: 1.35 [1.17-1.55]). 12 Based on the present meta-analysis, involving a homogeneous group of endurance athletes (i.e., runners and cyclists), we can confirm that endurance athletes possess a higher prevalence of the II genotype compared with sedentary controls (pooled odds ratio [95%CI]: 1.42 [1.12-1.81]).…”

Section: Acementioning

confidence: 99%

Genetics of long‐distance runners and road cyclists—A systematic review with meta‐analysis

Konopka

Bunder

Rietjens

et al. 2022

Scandinavian Med Sci Sports

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The aim of this systematic review and meta‐analysis was to identify the genetic variants of (inter)national competing long‐distance runners and road cyclists compared with controls. The Medline and Embase databases were searched until 15 November 2021. Eligible articles included genetic epidemiological studies published in English. A homogenous group of endurance athletes competing at (inter)national level and sedentary controls were included. Pooled odds ratios based on the genotype frequency with corresponding 95% confidence intervals (95%CI) were calculated using random effects models. Heterogeneity was addressed by Q‐statistics, and I2. Sources of heterogeneity were examined by meta‐regression and risk of bias was assessed with the Clark Baudouin scale. This systematic review comprised of 43 studies including a total of 3938 athletes and 10 752 controls in the pooled analysis. Of the 42 identified genetic variants, 13 were investigated in independent studies. Significant associations were found for five polymorphisms. Pooled odds ratio [95%CI] favoring athletes compared with controls was 1.42 [1.12–1.81] for ACE II (I/D), 1.66 [1.26–2.19] for ACTN3 TT (rs1815739), 1.75 [1.34–2.29] for PPARGC1A GG (rs8192678), 2.23 [1.42–3.51] for AMPD1 CC (rs17602729), and 2.85 [1.27–6.39] for HFE GG + CG (rs1799945). Risk of bias was low in 25 (58%) and unclear in 18 (42%) articles. Heterogeneity of the results was low (0%–20%) except for HFE (71%), GNB3 (80%), and NOS3 (76%). (Inter)national competing runners and cyclists have a higher probability to carry specific genetic variants compared with controls. This study confirms that (inter)national competing endurance athletes constitute a unique genetic make‐up, which likely contributes to their performance level.

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“…Another approach that has proven effective in addressing the possibility of false positive results in sports genomics literature is to perform replication studies in two or more independent athletic cohorts (even with small or moderate sample sizes), followed by a meta-analysis to quantify the overall effect of a polymorphism on athlete status and/or a sport- and exercise-related trait [ 43 , 52 , 53 , 54 , 55 , 56 , 57 , 58 , 59 , 60 , 61 , 62 , 63 , 64 , 65 ]. However, in some cases, replication is not possible due to the exclusivity of a polymorphism to specific populations based on their geographic ancestry.…”

Section: Introductionmentioning

confidence: 99%

Genes and Athletic Performance: The 2023 Update

Semenova

Hall

Ahmetov

2023

Genes

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Phenotypes of athletic performance and exercise capacity are complex traits influenced by both genetic and environmental factors. This update on the panel of genetic markers (DNA polymorphisms) associated with athlete status summarises recent advances in sports genomics research, including findings from candidate gene and genome-wide association (GWAS) studies, meta-analyses, and findings involving larger-scale initiatives such as the UK Biobank. As of the end of May 2023, a total of 251 DNA polymorphisms have been associated with athlete status, of which 128 genetic markers were positively associated with athlete status in at least two studies (41 endurance-related, 45 power-related, and 42 strength-related). The most promising genetic markers include the AMPD1 rs17602729 C, CDKN1A rs236448 A, HFE rs1799945 G, MYBPC3 rs1052373 G, NFIA-AS2 rs1572312 C, PPARA rs4253778 G, and PPARGC1A rs8192678 G alleles for endurance; ACTN3 rs1815739 C, AMPD1 rs17602729 C, CDKN1A rs236448 C, CPNE5 rs3213537 G, GALNTL6 rs558129 T, IGF2 rs680 G, IGSF3 rs699785 A, NOS3 rs2070744 T, and TRHR rs7832552 T alleles for power; and ACTN3 rs1815739 C, AR ≥21 CAG repeats, LRPPRC rs10186876 A, MMS22L rs9320823 T, PHACTR1 rs6905419 C, and PPARG rs1801282 G alleles for strength. It should be appreciated, however, that elite performance still cannot be predicted well using only genetic testing.

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A meta-analysis on the association of ACE and PPARA gene variants and endurance athletic status

Cited by 7 publications

References 45 publications

Association between ACTN3 (R577X), ACE (I/D), BDKRB2 (-9/+9), and AGT (M268T) polymorphisms and performance phenotypes in Brazilian swimmers

Association between ACTN3 (R577X), ACE (I/D), BDKRB2 (-9/+9), and AGT (M268T) polymorphisms and performance phenotypes in Brazilian swimmers

Genetics of long‐distance runners and road cyclists—A systematic review with meta‐analysis

Genes and Athletic Performance: The 2023 Update

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