Human gene for physical performance

Montgomery, Hugh; Marshall, Ruth; Hemingway, Harry; Myerson, Saul G.; Clarkson, Patrick; Dollery, Claire; Hayward, Martin; Holliman, D. E.; Jubb, Mick; Thomas, E. Louise; Brynes, Audrey E.; Saeed, Nadeem; Barnard, Maria; Bell, Jimmy D.; Prasad, Kishore Chandra; Rayson, Mark P.; Talmud, Philippa J.; Humphries, Steve E.

doi:10.1038/30374

Cited by 521 publications

(431 citation statements)

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“…Not many candidate genes associated with physical functioning have been identified. One suggestion has been a polymorphism in the gene encoding the Angiotensin Converting Enzyme, but the association was found only in small samples of young healthy males and elite athletes [Montgomery et al, 1998;Williams et al, 2000;Gayagay et al, 1998;Myerson et al, 1999], and not in all studies [Taylor et al, 1999;Rankinen et al, 2000a,b] and not among the elderly [Frederiksen et al, 2002]. A polymorphism in the gene encoding a receptor for vitamin D has been associated with grip strength in postmenopausal women, but only in a nonobese subgroup [Geusens et al, 1997].…”

Section: Discussionmentioning

confidence: 99%

“…However, only a few specific genetic variants have been suggested to affect some of the phenotypes reflecting physical functioning. The findings from these and other studies have mostly been based on selected populations [i.e., young healthy males and elite athletes; Montgomery et al, 1998;Williams et al, 2000;Gayagay et al, 1998;Myerson et al, 1999] and have not been consistent [Taylor et al, 1999;Rankinen et al, 2000a,b;Frederiksen et al, 2002], or the association was confined to subgroups within the study sample [Geusens et al, 1997]. With respect to physical functioning, various different phenotypes [e.g., self-report; Christensen et al, 2000], a proportion of fast-twitch and slow-twitch fibers in skeletal muscle biopsies [Simoneau and Bouchard, 1995], magnetic resonance imaging of muscle mass [Gibbons et al, 1998], and measurement of maximal aerobic power (VO 2-max ) [Sundet et al, 1994] have been used in different studies, all of which suggested a genetic component to physical functioning.…”

Section: Introductionmentioning

confidence: 99%

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Hand grip strength: A phenotype suitable for identifying genetic variants affecting mid‐ and late‐life physical functioning

Frederiksen

Garcı́a-Dorado

Petersen

et al. 2002

Genetic Epidemiology

184

137

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Physical functioning late in life has been shown to be affected by genetic factors. Only a few genetic variants have been suggested to be associated with physical functioning, and this only in selected populations (e.g., young healthy males and elite athletes). Declining physical functioning late in life is a major problem in terms of prevalence, morbidity, functional limitations, and quality of life. It is therefore of interest to find a phenotype reflecting physical functioning which has a relatively high heritability and which can be measured in large samples. Hand grip strength is known to be associated with muscular functioning in other muscle groups and with activities of daily living (ADL) functioning, and it predicts incident disability. We studied 1,757 Danish twin pairs aged 45-96 years, and found that this phenotype has a heritability of 52% (95% confidence interval (CI), 48-55%). A powerful design to detect genes associated with a phenotype is obtained using the extreme discordant and concordant sib pairs, of whom 28 and 77 dizygotic twin pairs, respectively,

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Hand grip strength: A phenotype suitable for identifying genetic variants affecting mid‐ and late‐life physical functioning

Frederiksen

Garcı́a-Dorado

Petersen

et al. 2002

Genetic Epidemiology

184

137

View full text Add to dashboard Cite

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“…Based on the association between the I allele of the ACE gene and superior performance capacity in elite endurance athletes [10,11,12], the relation between serum ACE activity and risk of severe hypoglycaemia could be explained by superior cognitive or overall performance of subjects with low ACE activity during hypoglycaemia. This is supported by the fact that measures of mild and biochemical hypoglycaemia were not affected by serum ACE activity, indicating that subjects, independent of their ACE activity, experience hypoglycaemia with equal frequency but that those with low ACE activity to a greater extent are able to compensate the condition by self-treatment or maintenance of near-normal function until the next pre-scheduled meal.…”

Section: Discussionmentioning

confidence: 99%

“…In healthy humans both antecedent exercise and antecedent hypoglycaemia attenuate symptoms and hormonal counterregulation during subsequent hypoglycaemia [7,8]. In elite endurance athletes, who like patients with Type 1 diabetes spend considerable time with limited fuel availability, performance capacity has been associated with the angiotensin-converting enzyme (ACE) genotype as the insertion (I) allele of the ACE gene that confers low ACE activity, compared to the deletion (D) allele [9], has been linked to superior performance capacity [10,11,12].…”

Section: Following the Diabetes Control And Complicationsmentioning

confidence: 99%

Prediction of Severe Hypoglycaemia by Angiotensin-Converting Enzyme Activity and Genotype in Type 1 Diabetes

et al. 2003

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Aims/hypothesis. We have previously shown a strong relationship between high angiotensin-converting enzyme (ACE) activity, presence of the deletion (D) allele of the ACE gene and recall of severe hypoglycaemic events in patients with Type 1 diabetes. This study was carried out to assess this relationship prospectively. Methods. We followed 171 adult outpatients with Type 1 diabetes in a one-year observational study with the recording of severe hypoglycaemia. Participants were characterised by serum ACE activity and ACE genotype and not treated with ACE inhibitors or angiotensin II receptor antagonists.Results. There was a positive relationship between serum ACE activity and rate of severe hypoglycaemia with a 2.7 times higher rate in the fourth quartile of ACE activity compared to the first quartile (p=0.0007). A similar relationship was observed for the subset of episodes with coma (2.9 times higher rate in fourth quartile compared to first quartile; p=0.048). The impact of serum ACE activity was most pronounced in C-peptide negative subjects (4.2 times higher rate in fourth quartile compared to first quartile; p=0.003), and in this subgroup carriers of the D allele of the ACE gene had higher rates of severe hypoglycaemia compared to the group homozygous for the insertion (I) allele. In a multiple regression analysis high serum ACE activity and impaired awareness of hypoglycaemia were identified as the only significant predictors of severe hypoglycemia. To avoid progression of these frequent episodes into severe hypoglycaemia patients rely on maintenance of performance capacity [3] until hypoglycaemic symptoms are recognised and self-treated or until the next pre-scheduled meal is ingested.Risk of severe hypoglycaemia is a major limiting factor for the achievement of good metabolic control [4] rendering prediction of individual risk of severe hypoglycaemia increasingly important. Loss of hypoglycaemic warning symptoms and blunted hormonal counterregulatory response are the most important known predictors of severe hypoglycaemia [4,5]. However, even patients at high risk according to these paFollowing the Diabetes Control and Complications Trial [1] a growing demand for strict glycaemic control has emerged to avoid late diabetic complications in Type 1 diabetes. As a consequence the majority of patients with Type 1 diabetes experience mild hypoglycaemia on a regular basis and recent studies applying continuous glucose monitoring indicate that pa-

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“…The D allele has also been associated with increased risk of hypertension, diabetic renal complications and cardiovascular complications. Some studies have shown an association between ACE and physical performance [17][18][19], and it has been proposed that there may be a similarity in metabolic features between hypoglycaemia and exercise [8,20,21], such that patients with type 1 diabetes and the DD genotype are at increased risk of severe hypoglycaemia compared with those with the II genotype [21].…”

Section: Introductionmentioning

confidence: 99%

The relationship between ACE genotype and risk of severe hypoglycaemia in a large population-based cohort of children and adolescents with type 1 diabetes

et al. 2007

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Aims/hypothesis Genetic factors may account for familial clustering related to diabetes complications. Studies have shown a significant relationship between the presence of the deletion (D) allele of the gene encoding ACE and risk of severe hypoglycaemia. This large prospective cohort study assesses this relationship in a large sample of children and adolescents with type 1 diabetes. Subjects and methods We studied 585 children and adolescents (mean age 11.9±4 years, 48.4% males). The frequency of severe hypoglycaemia (an event leading to loss of consciousness or seizure) was prospectively assessed over the 13-year period 1992-2004. Patients were seen with their parents every 3 months and data recorded at each visit. The ACE gene was detected using PCR. Results In our cohort of 585 children, 186 (31.8%) had at least one episode of severe hypoglycaemia, and of these 28.0% had the II genotype, 48.9% had the ID genotype and 23.1% had the DD genotype. This was in agreement with the Hardy-Weinberg proportion. A total of 477 severe hypoglycaemic episodes was recorded with a total of 3,404 person-years of follow-up, giving a total incidence of 14 per 100 patient-years. No significant increase in risk for DD genotype (incidence rate ratio=0.97, 95% CI 0.61-1.55) relative to II genotype was observed. Conclusions/interpretation This large prospective study concludes that the presence of the D allele of the ACE gene does not predict a significantly higher risk of severe hypoglycaemia in type 1 diabetic children and adolescents.

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Human gene for physical performance

Cited by 521 publications

References 0 publications

Hand grip strength: A phenotype suitable for identifying genetic variants affecting mid‐ and late‐life physical functioning

Hand grip strength: A phenotype suitable for identifying genetic variants affecting mid‐ and late‐life physical functioning

Prediction of Severe Hypoglycaemia by Angiotensin-Converting Enzyme Activity and Genotype in Type 1 Diabetes

The relationship between ACE genotype and risk of severe hypoglycaemia in a large population-based cohort of children and adolescents with type 1 diabetes

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