Associations between cardiorespiratory responses to exercise and the C34T<i>AMPD1</i>gene polymorphism in the HERITAGE Family study

Rico-Sanz, J.; Rankinen, Tuomo; Joanisse, Denis R.; Leon, Arthur S.; Skinner, James S.; Wilmore, J H; Rao, D. C.; Bouchard, Claude

doi:10.1152/physiolgenomics.00165.2002

Cited by 85 publications

(92 citation statements)

References 35 publications

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“…In this study, there was no significant association between genotypes and BMI, which is in agreement with previous studies (Rico-Sanz et al, 2003;Kolek et al, 2005;Agewall and Norman, 2006;Collins et al, 2006). In addition, we did not observe a significant association between genotypes and the level of FBS.…”

Section: Discussionsupporting

confidence: 92%

Association between the C34T polymorphism of the AMPD1 gene and essential hypertension in Malaysian patients

Nemati¹,

Lü²,

Ramachandran³

et al. 2016

Genet. Mol. Res.

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ABSTRACT. The aim of this study was to determine whether C34T, a common polymorphism of the adenosine monophosphate deaminase 1 gene (AMPD1), is associated with essential hypertension (EH). We hypothesize that C34T is associated with the development of EH. A casecontrol design was used for this study. The DNA was extracted using a commercial kit from the whole blood of 200 patients with hypertension and 200 subjects without hypertension from selected Malaysian ethnicities (Malays, Chinese, and Indians). Polymerase chain reaction followed by restriction fragment length polymorphism (PCR-RFLP) and agarose gel electrophoresis were used for genotyping. The C34T gene polymorphism of AMPD1 was significantly associated with EH in the Malaysian subjects (P < 0.0001). The genotype frequencies of CC, CT, and TT were 6%, 79%, and 15%, respectively, among hypertensive subjects, while no TT genotypes were observed in the normotensive subjects. Further, the frequency of hypertension was higher among T allele carriers than C carriers (OD = 9.94; 95%CI = 6.851-14.434). There were significant differences in the systolic blood pressure, diastolic blood pressure, and pulse pressure (P ˂ 0.05) between the normotensive and hypertensive Malaysian subjects; we believe those difference were caused by the C34T polymorphism. For the first time in Malaysia, the current study provides evidence that a common polymorphism of the AMPD1 gene (C34T) is strongly associated with EH.

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Section: Discussionsupporting

confidence: 92%

Association between the C34T polymorphism of the AMPD1 gene and essential hypertension in Malaysian patients

Nemati¹,

Lü²,

Ramachandran³

et al. 2016

Genet. Mol. Res.

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“…However, despite numerous reports of exerciseinduced cramping, pain and early fatigue in mAMPD-deWcient individuals, the high prevalence of AMPD1 mutations in the general population indicates relatively more asymptomatic mAMPD-deWcient individuals (Norman et al 1995(Norman et al , 2001Rico-Sanz et al 2003;Sabina et al 1984;Verzijl et al 1998). This Wnding lends little support to the proposed causal relationship between mAMPD deWciency and myopathic symptoms.…”

Section: Introductionmentioning

confidence: 87%

“…This Wnding lends little support to the proposed causal relationship between mAMPD deWciency and myopathic symptoms. Nevertheless, several recent studies have shown diminished exercise performance in asymptomatic individuals with an inherited mAMPD deWciency (De Ruiter et al 2002;Fischer et al 2007;Rico-Sanz et al 2003), which does indicate a physiological role for this enzyme in skeletal muscle.…”

Section: Introductionmentioning

confidence: 99%

The effect of AMPD1 genotype on blood flow response to sprint exercise

Norman

Nygren²,

Nowak

et al. 2008

Eur J Appl Physiol

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Inherited deficiency of skeletal muscle myoadenylate deaminase (mAMPD) is a genetic disorder characterized primarily by a 34C>T transition in exon 2 of the AMPD1 gene. mAMPD deficient individuals exhibit alterations in ATP catabolic flow, resulting in greater adenosine accumulation during high intensity exercise that may possibly enhance exercise-induced hyperaemia. This study tested the hypothesis that individuals with diminished mAMPD activity due to mutations in the AMPD1 gene develop a greater and faster blood flow response to high intensity exercise than individuals with two AMPD1 normal alleles (NN). Four 34C>T homozygotes, two compound heterozygotes (34C>T in one allele and a recently identified 404delT mutation in the other AMPD1 allele), collectively termed MM, one 34C>T heterozygote (NM) and eight NN males were studied. They performed a 30 s Wingate cycling test with monitoring of power output and other parameters of exercise performance. Common femoral artery blood flow was measured before and after (up to 25 min) exercise, using ultrasonography. Mean power during Wingate cycling was approximately 10% lower in MM/NM than in NN; p<0.01. Blood flow response to exercise also differed between MM/NM and NN individuals (ANOVA; p<0.001). There was also a difference in peak post-exercise blood flow (p<0.05), and the subsequent fall in blood flow during the recovery phase (T1/2) occurred more than twice as fast in MM/NM compared to NN subjects (7.8+/-1.1 min vs. 16.1+/-1.4 min, p<0.001). These results suggest a better circulatory adaptation to exercise in individuals with diminished mAMPD activity, probably due to an AMPD1 genotype-dependent increase in adenosine formation.

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“…Rubio és munkatársai megfigyelték, hogy a T allél gyakorisága kisebb volt az álta-luk vizsgált kerékpárosok és futók körében, mint a nem sportoló kontrollpopulációban [37]. Rico-Sanz és munkatársai több teljesítmény-élettani mutatóban is különbséget fedeztek fel a különböző AMPD genotípusú személyek között [38]. Az AMPD-variánsok így a teljesítményt befolyásoló kandidáns locusok közé sorolhatóak.…”

Section: Az áLlóképességet éS Az Izomerőt Befolyásoló További Génváltunclassified

Review of genetic research and testing in sport

Marosi

Horvath²,

Nagy

et al. 2012

Orvosi Hetilap

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Az utóbbi években megerősítést nyert a fi zikai teljesítmény jelentős mértékű genetikai meghatározottsága. Emellett a sportoláshoz köthető sérülésekre és betegségekre való genetikai hajlamról is egyre nagyobb ismeretanyag áll rendelkezésünkre. A teljesítményt befolyásoló génpolimorfi zmusok vizsgálata lehetőséget kínál a sportági kiválasz-tási rendszer fejlesztésére. A sportoló genetikai profi ljának ismerete a jövőben lehetővé teszi a személyre szabott edzésprogram kidolgozását és ezáltal a teljesítmény potenciális növelését. A genetikai tesztek a jövőben fontos szerepet játszhatnak a sérülések és a betegségek genetikai kockázati tényezőinek szűrésében is. Orv. Hetil., 2012, 153, 1247-1255. Kulcsszavak: sport, genetikai hajlam, sportteljesítmény, prevenció Review of genetic research and testing in sportThere is compelling evidence for a genetic contribution to physical performance. In addition, there is an advanced scientifi c knowledge on the predisposition to sports-related diseases and injuries. Genetic testing of performance related polymorphisms can serve as a new opportunity for developing the process of talent selection. Sport-related genetic information may also allow for individualization of the training and improve performance. Genetic testing may also play an important role in the pre-participation screening for injuries and disease risks. Orv. Hetil., 2012Hetil., , 153, 1247Hetil., -1255 Keywords: sport, genetic predisposition, sport performance, prevention (Beérkezett: 2012. május 10.; elfogadva: 2012. június 14.) Rövidítések ACE = angiotenzinkonvertáló enzim; ACTN3 = α-aktinin-3; ADBR2 = béta-adrenerg receptor-2; AMPD1 = AMP deamináz-1, ARVD = arrhythmogen jobb kamrai dysplasia; BAS-ES = The British Association for Sport and Exercise Sciences; BrS = Brugada-szindróma; CFS = Canada Fitness Survey; CPVT = katecholaminerg polimorf kamrai tachycardia; BDKRB2 = bradikininreceptor-B2; CKMM = izomspecifi kus kreatinkináz; GINA = Genetic Information Nondiscrimination Act; GWAS = Genom Wide Association Studies; HC = hypertrophiás cardiomyopathia; HERITAGE = Health, RIskfactors, exercise Training and Genetics; HIF1 = hipoxia indukálta faktor 1; LQTS = hosszú QT-szindróma; MMP3 = mátrix-metalloproteináz-3; MSTN = myostatin; NOS3 = nitrogén-oxidszintetáz-3; PEP = performance enhancing polymorphisms; PPARGC = peroxisome proliferator-activated receptor gamma coactivator 1; SCD = sudden cardiac death; TCN = tenascin-C; SQTS = rövid QT-szindróma; WADA = World Anti-Doping Agency Az örökítőanyagunk biztosítja az élethez szükséges genetikai információt. A humán DNS szekvenciája hordozza az emberi fajra jellemző tulajdonságokat és egy-

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Associations between cardiorespiratory responses to exercise and the C34TAMPD1gene polymorphism in the HERITAGE Family study

Cited by 85 publications

References 35 publications

Association between the C34T polymorphism of the AMPD1 gene and essential hypertension in Malaysian patients

Association between the C34T polymorphism of the AMPD1 gene and essential hypertension in Malaysian patients

The effect of AMPD1 genotype on blood flow response to sprint exercise

Review of genetic research and testing in sport

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