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    AMPD1 adenosine monophosphate deaminase 1 [ Homo sapiens (human) ]

    Gene ID: 270, updated on 22-Apr-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    AMPD1 C34T Polymorphism (rs17602729) Is Not Associated with Post-Exercise Changes of Body Weight, Body Composition, and Biochemical Parameters in Caucasian Females.

    AMPD1 C34T Polymorphism (rs17602729) Is Not Associated with Post-Exercise Changes of Body Weight, Body Composition, and Biochemical Parameters in Caucasian Females.
    Leońska-Duniec A, Maculewicz E, Humińska-Lisowska K, Maciejewska-Skrendo A, Leźnicka K, Cięszczyk P, Sawczuk M, Trybek G, Wilk M, Lepionka W, Ficek K., Free PMC Article

    03/20/2021
    Ultrastructural Localization of Histidine-rich Glycoprotein in Skeletal Muscle Fibers: Colocalization With AMP Deaminase.

    Ultrastructural Localization of Histidine-rich Glycoprotein in Skeletal Muscle Fibers: Colocalization With AMP Deaminase.
    Mattii L, Bianchi F, Falleni A, Frascarelli S, Masini M, Alì G, Chiellini G, Sabbatini ARM., Free PMC Article

    08/15/2020
    T allele of AMPD1 gene C34T polymorphism may be correlated with LVEF, LVEDD and SBP, which plays a protective role in the cardiac functions and blood pressure in cardiovascular disease patients.

    Effects of AMPD1 gene C34T polymorphism on cardiac index, blood pressure and prognosis in patients with cardiovascular diseases: a meta-analysis.
    Feng AF, Liu ZH, Zhou SL, Zhao SY, Zhu YX, Wang HX., Free PMC Article

    01/13/2018
    The metabolic-chronotropic response is decreased in skeletal muscle MAD deficiency, suggesting a biological mechanism by which AMPD1 gene exerts cardiac effect

    Effects of AMPD1 common mutation on the metabolic-chronotropic relationship: Insights from patients with myoadenylate deaminase deficiency.
    Rannou F, Scotet V, Marcorelles P, Monnoyer R, Le Maréchal C., Free PMC Article

    12/9/2017
    Variations in AMPD1, CPT2, and PGYM genes are not associated with the onset, susceptibility, or severity of chronic fatigue syndrome.

    Genetic evaluation of AMPD1, CPT2, and PGYM metabolic enzymes in patients with chronic fatigue syndrome.
    Maltese PE, Venturini L, Poplavskaya E, Bertelli M, Cecchin S, Granato M, Nikulina SY, Salmina A, Aksyutina N, Capelli E, Ricevuti G, Lorusso L.

    03/4/2017
    Common polymorphism of the AMPD1 gene (C34T) is strongly associated with essential hypertension.

    Association between the C34T polymorphism of the AMPD1 gene and essential hypertension in Malaysian patients.
    Nemati R, Lu J, Ramachandran V, Etemad A, Heidari M, Yahya MJ, Roozafzoon R, Ismail P.

    02/18/2017
    AMPD1 could have a profound influence on cholinergic neurotransmission and sleep; further studies are mandatory

    Possible influence of AMPD1 on cholinergic neurotransmission and sleep.
    Buyse B, Van Damme P, Belge C, Testelmans D.

    10/29/2016
    AMPD1 34C>T variant is associated with higher infection susceptibility to community acquired pneumonia but not to ventilator associated pneumonia in sepsis pateints

    Effects of the 34C>T Variant of the AMPD1 Gene on Immune Function, Multi-Organ Dysfunction, and Mortality in Sepsis Patients.
    Ramakers BP, Giamarellos-Bourboulis EJ, Tasioudis C, Coenen MJ, Kox M, Vermeulen SH, Groothuismink JM, van der Hoeven JG, Routsi C, Savva A, Prekates A, Diamantea F, Sinapidis D, Smits P, Toutouzas K, Riksen NP, Pickkers P, Hellenic Sepsis Study Group.

    10/22/2016
    Mutational variants in AMPD1 contribute to autism risk in Han Chinese population, via mitochondria dysfunction and cell necrosis.

    AMPD1 functional variants associated with autism in Han Chinese population.
    Zhang L, Ou J, Xu X, Peng Y, Guo H, Pan Y, Chen J, Wang T, Peng H, Liu Q, Tian D, Pan Q, Zou X, Zhao J, Hu Z, Xia K.

    06/4/2016
    The best response to creatine in terms of physical performance was presented by AMPD1 CC genotype.

    Effect of creatine supplementation on physical performance are related to the AMPD1 and PPARG genes polymorphisms in football players.
    Lifanov D, Khadyeva MN, Rahmatullina LSh, Demenev SV, Ibragimov RR.

    03/7/2015
    The present study demonstrated a positive effect of C34T AMPD1 gene polymorphism in aortic stiffness and in inflammatory status in a high risk population of CAD subjects.

    The impact of AMPD1 gene polymorphism on vascular function and inflammation in patients with coronary artery disease.
    Tousoulis D, Kioufis S, Siasos G, Oikonomou E, Zaromitidou M, Maniatis K, Kokkou E, Mazaris S, Zakynthinos G, Konsola T, Stefanadis C.

    02/7/2015
    Our other studies on the metabolic impact of AMPD1 C34T mutation revealed decrease in AMPD activity.

    AMP deaminase 1 gene polymorphism and heart disease-a genetic association that highlights new treatment.
    Smolenski RT, Rybakowska I, Turyn J, Romaszko P, Zabielska M, Taegtmeyer A, Słomińska EM, Kaletha KK, Barton PJ., Free PMC Article

    11/8/2014
    Alpinists show significantly higher frequencies of T allele compared to controls.

    Performance enhancing genetic variants, oxygen uptake, heart rate, blood pressure and body mass index of elite high altitude mountaineers.
    Djarova T, Bardarev D, Boyanov D, Kaneva R, Atanasov P.

    11/23/2013
    AMPD1 gene polymorphism C34T can be considered as a marker of liability to the high-speed and strength muscular activity.

    Effect of AMPD1 gene polymorphism on muscle activity in humans.
    Fedotovskaya ON, Danilova AA, Akhmetov II.

    09/14/2013
    In a study of a Spanish and 2 North African cohorts, frequency of the AMPD1 C34T mutation was lower in Berbers compared with the Alpujarra cohort. The GDF8 K153R substitution showed little variability among the three cohorts.

    Polymorphisms influencing muscle phenotypes in North-African and Spanish populations.
    Fernández-Santander A, Valveny N, Harich N, Kandil M, Luna F, Martín MÁ, Rubio JC, Lucia A, Gaibar M.

    06/2/2012
    There was a lower frequency of the AMPD1 exon 2 T34 allele in elite Polish power-oriented athletes. The data suggested that the C allele may help athletes to attain elite status in power-oriented sports.

    Distribution of the AMPD1 C34T polymorphism in Polish power-oriented athletes.
    Cieszczyk P, Ostanek M, Leońska-Duniec A, Sawczuk M, Maciejewska A, Eider J, Ficek K, Sygit K, Kotarska K.

    04/21/2012
    The researchers found evidence that the T allele polymorphism of the AMPD1 gene is associated with negative factor in athletic performance

    Is the C34T polymorphism of the AMPD1 gene associated with athlete performance in rowing?
    Ciȩszczyk P, Eider J, Ostanek M, Leońska-Duniec A, Ficek K, Kotarska K, Girdauskas G.

    03/31/2012
    AMPD1 gene mutations are associated with obesity and diabetes in Polish patients with cardiovascular diseases.

    AMPD1 gene mutations are associated with obesity and diabetes in Polish patients with cardiovascular diseases.
    Safranow K, Suchy J, Jakubowska K, Olszewska M, Bińczak-Kuleta A, Kurzawski G, Rzeuski R, Czyżycka E, Łoniewska B, Kornacewicz-Jach Z, Ciechanowicz A, Chlubek D., Free PMC Article

    05/7/2011
    Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)

    Association of single-nucleotide polymorphisms from 17 candidate genes with baseline symptom-limited exercise test duration and decrease in duration over 20 years: the Coronary Artery Risk Development in Young Adults (CARDIA) fitness study.
    Sarzynski MA, Rankinen T, Sternfeld B, Grove ML, Fornage M, Jacobs DR Jr, Sidney S, Bouchard C., Free PMC Article

    12/5/2010
    some physico-chemical properties of AMP-deaminase isolated from cardiac muscle of a 10-year-old boy heterozygote for this mutation

    Cardiac muscle AMP-deaminase from a 10-year-old male heterozygous for the AMPD1 C34T mutation.
    Rybakowska I, Bakuła S, Klimek J, Milczarek R, Smolenski RT, Kaletha K.

    09/20/2010
    Observational study of gene-disease association, gene-gene interaction, gene-environment interaction, and genetic testing. (HuGE Navigator)

    Integrative predictive model of coronary artery calcification in atherosclerosis.
    McGeachie M, Ramoni RL, Mychaleckyj JC, Furie KL, Dreyfuss JM, Liu Y, Herrington D, Guo X, Lima JA, Post W, Rotter JI, Rich S, Sale M, Ramoni MF., Free PMC Article

    04/7/2010
    We found statistical significance for ACE ID and II genotypes in soccer players than in runners; Statistical significance was also reached for AMPD1 (with higher frequency of CT genotype in soccer players than in runners [chi(2)((2))=7.538, P=0.006])

    Genotype distributions in top-level soccer players: a role for ACE?
    Juffer P, Furrer R, González-Freire M, Santiago C, Verde Z, Serratosa L, Morate FJ, Rubio JC, Martin MA, Ruiz JR, Arenas J, Gómez-Gallego F, Lucia A.

    01/21/2010
    Possession of AMPD1 T allele is associated with decreased inotropic requirements before heart donation. Incidence of graft dysfunction was significantly higher in recipients who received AMPD1 T-allele-possessing organs resulting in worse 1-year survival.

    Effect of adenosine monophosphate deaminase-1 C34T allele on the requirement for donor inotropic support and on the incidence of early graft dysfunction after cardiac transplantation.
    Taegtmeyer AB, Breen JB, Rogers P, Johnson PH, Smith J, Smolenski RT, Banner NR, Yacoub MH, Barton PJ.

    01/21/2010
    Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)See all PubMed (2) articles

    Does the polygenic profile determine the potential for becoming a world-class athlete? Insights from the sport of rowing.
    Santiago C, Ruiz JR, Muniesa CA, González-Freire M, Gómez-Gallego F, Lucia A.

    Is there an optimum endurance polygenic profile?
    Ruiz JR, Gómez-Gallego F, Santiago C, González-Freire M, Verde Z, Foster C, Lucia A.

    03/25/2009
    C34T AMPD1 polymorphism may be associated with reduced frequency of obesity in coronary artery disease(CAD) patients and of hyperglycaemia and diabetes in both CAD and heart failure patients.

    Association of C34T AMPD1 gene polymorphism with features of metabolic syndrome in patients with coronary artery disease or heart failure.
    Safranow K, Czyzycka E, Binczak-Kuleta A, Rzeuski R, Skowronek J, Wojtarowicz A, Jakubowska K, Olszewska M, Loniewska B, Kaliszczak R, Kornacewicz-Jach Z, Ciechanowicz A, Chlubek D.

    01/21/2010
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