The angiotensin-converting enzyme insertion/deletion polymorphism rs4340 associates with habitual physical activity among European American adults

Bruneau, Michaël; Angelopoulos, Theodore J.; Gordon, Paul M.; Moyna, Niall M.; Visich, Paul S.; Zoeller, Robert F.; Seip, Rick; Bilbie, Stephen M.; Thompson, Paul D.; Devaney, Joseph M.; Gordish‐Dressman, Heather; Hoffman, Eric P.; Pescatello, Linda S.

doi:10.1002/mgg3.308

Cited by 4 publications

(5 citation statements)

References 29 publications

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“…In line with previous reviews [ 12 , 19 , 20 ] we noted that phenotype definitions of physical activity varied considerable between studies, including constructs such as walking distance [ 32 ], low-intensity physical activity [ 45 , 52 ], moderate intensity physical activity [ 34 , 36 , 49 ], vigorous physical activity [ 34 , 37 ], energy expenditure [ 29 , 31 , 48 ], engagement in sports activities [ 44 , 51 ], meeting recommended levels of physical activity [ 50 ], and physical activity level from childhood to adolescence [ 46 ]. Moreover, these phenotype definitions were in many studies based on instruments with poor validity.…”

Section: Discussionsupporting

confidence: 85%

“…In line with previous reviews [12,19,20] we noted that phenotype definitions of physical activity varied considerable between studies, including constructs such as walking distance [32], low-intensity physical activity [45,52], moderate intensity physical activity [34,36,49], vigorous physical activity [34,37], energy expenditure [29,31,48], engagement in sports activities [44,51], meeting Table 3 Genotype-phenotype associations in medium (6-8.5 points) and high (≥9 points) quality candidate gene studies and GWAS. For GWAS, results with a genome-wide significance level of p < 5 × 10 −8 or lower are presented.…”

Section: Discussionsupporting

confidence: 83%

“…Among the 48 candidate gene studies, the scores varied from 1 to 9.5, with a median of 6.5. Three candidate gene studies were considered high quality [ 32 , 33 , 41 ], 35 medium quality, while 10 studies were considered low or very low quality.…”

Section: Resultsmentioning

confidence: 99%

“…The candidate gene studies showed associations ( p < 0.05) between variants in 30 different genes and physical activity and/or sedentary behaviour (Table 3 and online supplementary 5 ). The high-quality study by Bruneau et al [ 32 ] found an association between walking distance per week and an insertion/deletion polymorphism of a 287-bp Alu repeat sequence within the intron 16 in ACE (rs4340). This polymorphism was also found to be associated with both physical activity and sedentary behaviour in two medium quality studies [ 43 , 52 ] and in one low quality study [ 51 ].…”

Section: Resultsmentioning

confidence: 99%

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Genetic variants related to physical activity or sedentary behaviour: a systematic review

Aasdahl

Nilsen

Meisingset

et al. 2021

Int J Behav Nutr Phys Act

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Background Research shows that part of the variation in physical activity and sedentary behaviour may be explained by genetic factors. Identifying genetic variants associated with physical activity and sedentary behaviour can improve causal inference in physical activity research. The aim of this systematic review was to provide an updated overview of the evidence of genetic variants associated with physical activity or sedentary behaviour. Methods We performed systematic literature searches in PubMed and Embase for studies published from 1990 to April 2020 using keywords relating to “physical activity”, “exercise”, “sedentariness” and “genetics”. Physical activity phenotypes were either based on self-report (e.g., questionnaires, diaries) or objective measures (e.g., accelerometry, pedometer). We considered original studies aiming to i) identify new genetic variants associated with physical activity or sedentary behaviour (i.e., genome wide association studies [GWAS]), or ii) assess the association between known genetic variants and physical activity or sedentary behaviour (i.e., candidate gene studies). Study selection, data extraction, and critical appraisal were carried out by independent researchers, and risk of bias and methodological quality was assessed for all included studies. Results Fifty-four out of 5420 identified records met the inclusion criteria. Six of the included studies were GWAS, whereas 48 used a candidate gene approach. Only one GWAS and three candidate gene studies were considered high-quality. The six GWAS discovered up to 10 single nucleotide polymorphisms (SNPs) associated with physical activity or sedentariness that reached genome-wide significance. In total, the candidate gene studies reported 30 different genes that were associated (p < 0.05) with physical activity or sedentary behaviour. SNPs in or close to nine candidate genes were associated with physical activity or sedentary behaviour in more than one study. Conclusion GWAS have reported up to 10 loci associated with physical activity or sedentary behaviour. Candidate gene studies have pointed to some interesting genetic variants, but few have been replicated. Our review highlights the need for high-quality GWAS in large population-based samples, and with objectively assessed phenotypes, in order to establish robust genetic instruments for physical activity and sedentary behaviour. Furthermore, consistent replications in GWAS are needed to improve credibility of genetic variants. Trial registration Prospero CRD42019119456.

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Section: Discussionsupporting

confidence: 85%

“…In line with previous reviews [12,19,20] we noted that phenotype definitions of physical activity varied considerable between studies, including constructs such as walking distance [32], low-intensity physical activity [45,52], moderate intensity physical activity [34,36,49], vigorous physical activity [34,37], energy expenditure [29,31,48], engagement in sports activities [44,51], meeting Table 3 Genotype-phenotype associations in medium (6-8.5 points) and high (≥9 points) quality candidate gene studies and GWAS. For GWAS, results with a genome-wide significance level of p < 5 × 10 −8 or lower are presented.…”

Section: Discussionsupporting

confidence: 83%

Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

See 2 more Smart Citations

Genetic variants related to physical activity or sedentary behaviour: a systematic review

Aasdahl

Nilsen

Meisingset

et al. 2021

Int J Behav Nutr Phys Act

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show abstract

“…In a group of 1130 Mexican youths, those who had at least one copy of the minor allele for SNPs in ACE (rs8066276, p=0.012) were more likely to meet PA recommendations 61 . A study in European American adults also showed that the ACE I/D polymorphism rs4340 associates with weekly walking distance 62 . Other candidate genes have been studied such as the ankytin repeat domain 6 gene (ANKRD6) 63 (MC4R) which is located on chromosome 18 which was identified by a previous linkage study 29 .…”

Section: Candidate Genes For Physical Activitymentioning

confidence: 97%

Genetic Factors Associated With Human Physical Activity: Are Your Genes Too Tight To Prevent You Exercising?

Zhang

Speakman

2019

Endocrinology

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The benefits of physical activity (PA) on health and fitness are well known. Recently, it has become apparent from studies of heritability that there is a considerable genetic component to PA. However, PA is such complex phenotype that the measurement and quantification of it provide a challenge to a clearer understanding of its genetic basis. In this review we assessed available evidence from family and twin studies that have estimated the heritability of PA. Heritability is greater when evaluated by accelerometry compared to questionnaires, and for questionnaires higher in twin studies. Accelerometry studies suggest heritability of PA is around 51-56%. There have been many genome-wide linkage studies, candidate gene studies and four genome wide association studies (GWAS) to highlight specific genetic factors linked to different PA levels. These studies have generally failed to replicate identified loci with the exception of the melanocortin 4 receptor (MC4R) and this may be because of the variability in the measurement techniques used to characterise the behaviour. Future work should aim to standardise the procedures used to measure PA in the context of trying to identify genetic causes. The link of genetics to physical exercise is not so tight that it prevents voluntary interventions.

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Genomic predictors of physical activity and athletic performance

Ahmetov,

John,

Semenova

et al. 2024

Advances in Host Genetics and Microbiome in Lifestyle-Related Phenotypes

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The angiotensin-converting enzyme insertion/deletion polymorphism rs4340 associates with habitual physical activity among European American adults

Cited by 4 publications

References 29 publications

Genetic variants related to physical activity or sedentary behaviour: a systematic review

Genetic variants related to physical activity or sedentary behaviour: a systematic review

Genetic Factors Associated With Human Physical Activity: Are Your Genes Too Tight To Prevent You Exercising?

Genomic predictors of physical activity and athletic performance

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