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    PEMT phosphatidylethanolamine N-methyltransferase [ Homo sapiens (human) ]

    Gene ID: 10400, updated on 17-Jun-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    The Role of Phosphatidylethanolamine N-Methyltransferase (PEMT) and Its Waist-Hip-Ratio-Associated Locus rs4646404 in Obesity-Related Metabolic Traits and Liver Disease.

    The Role of Phosphatidylethanolamine N-Methyltransferase (PEMT) and Its Waist-Hip-Ratio-Associated Locus rs4646404 in Obesity-Related Metabolic Traits and Liver Disease.
    Sun C, Holstein DJF, Garcia-Cubero N, Moulla Y, Stroh C, Dietrich A, Schön MR, Gärtner D, Lohmann T, Dressler M, Stumvoll M, Blüher M, Kovacs P, Guiu-Jurado E., Free PMC Article

    12/20/2023
    Dietary Choline Intake during Pregnancy and PEMT rs7946 Polymorphism on Risk of Preterm Birth: A Case-Control Study.

    Dietary Choline Intake during Pregnancy and PEMT rs7946 Polymorphism on Risk of Preterm Birth: A Case-Control Study.
    Zhu J, Liu YH, He XL, Kohlmeier M, Zhou LL, Shen LW, Yi XX, Tang QY, Cai W, Wang B.

    06/15/2023
    PEMT variants are associated with nonsyndromic cleft lip with or without cleft palate in Chile.

    PEMT variants are associated with nonsyndromic cleft lip with or without cleft palate in Chile.
    Suazo J, Salamanca C, González-Hormazábal P, Cáceres-Rojas G, Pantoja R, Leiva N, Pardo R.

    10/8/2022
    Hepatic PEMT Expression Decreases with Increasing NAFLD Severity.

    Hepatic PEMT Expression Decreases with Increasing NAFLD Severity.
    Piras IS, Raju A, Don J, Schork NJ, Gerhard GS, DiStefano JK., Free PMC Article

    09/3/2022
    Associations between folate and choline intake, homocysteine metabolism, and genetic polymorphism of MTHFR, BHMT and PEMT in healthy pregnant Polish women.

    Associations between folate and choline intake, homocysteine metabolism, and genetic polymorphism of MTHFR, BHMT and PEMT in healthy pregnant Polish women.
    Chmurzynska A, Seremak-Mrozikiewicz A, Malinowska AM, Różycka A, Radziejewska A, KurzawiŃska G, Barlik M, Wolski H, Drews K.

    04/24/2021
    Total liver phosphatidylcholine content associates with non-alcoholic steatohepatitis and glycine N-methyltransferase expression.

    Total liver phosphatidylcholine content associates with non-alcoholic steatohepatitis and glycine N-methyltransferase expression.
    Männistö V, Kaminska D, Kärjä V, Tiainen M, de Mello VD, Hanhineva K, Soininen P, Ala-Korpela M, Pihlajamäki J.

    09/26/2020
    Genetic variations in PEMT and MTHFR were associated with different PUFA levels in erythrocyte membranes and are estimators for PUFA species in erythrocytes. Further research is needed to establish whether these genotype-specific alterations are specific to overweight children.

    Single Nucleotide Polymorphisms in PEMT and MTHFR Genes are Associated with Omega 3 and 6 Fatty Acid Levels in the Red Blood Cells of Children with Obesity.
    Serafim V, Chirita-Emandi A, Andreescu N, Tiugan DA, Tutac P, Paul C, Velea I, Mihailescu A, Șerban CL, Zimbru CG, Puiu M, Niculescu MD., Free PMC Article

    05/2/2020
    Our study shows that choline intake in Polish pregnant women is inadequate and that polymorphisms of PEMT rs12325817 and PCYT1A rs7639752 are associated with betaine but not choline concentrations.

    PEMT rs12325817 and PCYT1A rs7639752 polymorphisms are associated with betaine but not choline concentrations in pregnant women.
    Chmurzynska A, Seremak-Mrozikiewicz A, Malinowska AM, Różycka A, Radziejewska A, Szwengiel A, Kurzawińska G, Barlik M, Jagodziński PP, Drews K.

    05/25/2019
    PEMT polymorphisms may be associated with the susceptibility to intrauterine fetal death in the Polish population

    Importance of polymorphic variants of phosphatidylethanolamine N-methyltransferase (PEMT) gene in the etiology of intrauterine fetal death in the Polish population.
    Seremak-Mrozikiewicz A, Barlik M, Różycka A, Kurzawińska G, Klejewski A, Wolski H, Drews K.

    05/4/2019
    Study found three gene variants (CLOCK-rs4864548, PEMT-rs936108, and GHRELIN-rs696217) that exhibited uncorrected gene-by-sleep duration interactions in relation to BMI z-scores in a cohort of New Zealand European children. However, no interactions were identified in percentage body fat differences. Notably, these interactions are evident without detectable effects on sleep duration.

    Gene-by-environment interactions of the CLOCK, PEMT, and GHRELIN loci with average sleep duration in relation to obesity traits using a cohort of 643 New Zealand European children.
    Krishnan M, Shelling AN, Wall CR, Mitchell EA, Murphy R, McCowan LME, Thompson JMD, Children of SCOPE Study Group.

    03/10/2018
    In genotypic combination analysis considering PEMT -744GG/CHDH +432GG/BHMT +742GG as the reference combination, PEMT -744GC/CHDH +432GG/BHMT +742GG genotypic combination was significantly higher in mothers of a down syndrome child compared with that in control mothers with an odds ratio of 2.061 (95% CI: 1.10-3.86, P=0.0342).

    Choline metabolic pathway gene polymorphisms and risk for Down syndrome: An association study in a population with folate-homocysteine metabolic impairment.
    Jaiswal SK, Sukla KK, Chauhan A, Lakhotia AR, Kumar A, Rai AK.

    01/13/2018
    Results showed that PEMT mRNA expression in liver tissues of non-alcoholic steatohepatitis (NASH) patients was significantly lower than those with simple steatosis suggesting a distinct clinical entity of lean NASH with insufficiency of PEMT activities.

    Insufficiency of phosphatidylethanolamine N-methyltransferase is risk for lean non-alcoholic steatohepatitis.
    Nakatsuka A, Matsuyama M, Yamaguchi S, Katayama A, Eguchi J, Murakami K, Teshigawara S, Ogawa D, Wada N, Yasunaka T, Ikeda F, Takaki A, Watanabe E, Wada J., Free PMC Article

    03/4/2017
    a significant association between the PEMT rs7946 A-allele and a risk of nonalcoholic fatty liver disease, with the effect being more prominent in East-Asians, but not in non-Asians (Meta-Analysis)

    Phosphatidylethanolamine N-methyltransferase gene rs7946 polymorphism plays a role in risk of nonalcoholic fatty liver disease: evidence from meta-analysis.
    Tan HL, Mohamed R, Mohamed Z, Zain SM.

    11/19/2016
    Data show that phosphatidylethanolamineN-methyltransferase (PEMT) rs12325817 polymorphism only marginally changed the association value with academic achievement.

    Plasma 1-carbon metabolites and academic achievement in 15-yr-old adolescents.
    Nilsson TK, Hurtig-Wennlöf A, Sjöström M, Herrmann W, Obeid R, Owen JR, Zeisel S., Free PMC Article

    08/27/2016
    Data suggest that maternal dietary intake during lactation (here, choline intake exceeding dietary recommendations) can alter hepatic PEMT activity and increase choline content of breast milk.

    Choline intakes exceeding recommendations during human lactation improve breast milk choline content by increasing PEMT pathway metabolites.
    Davenport C, Yan J, Taesuwan S, Shields K, West AA, Jiang X, Perry CA, Malysheva OV, Stabler SP, Allen RH, Caudill MA.

    06/4/2016
    MTHFR rs1801131 C allele and PEMT rs4646356 T allele were associated with a high risk of type 2 diabetes in Han Chinese.

    Associations of common variants in methionine metabolism pathway genes with plasma homocysteine and the risk of type 2 diabetes in Han Chinese.
    Huang T, Sun J, Chen Y, Xie H, Xu D, Li D.

    06/27/2015
    The GG genotype of the PEMT G774C polymorphism, higher levels of serum homocysteine and lower levels of serum betaine are associated with an increased risk of microangiopathy in patients with diabetes.

    Higher homocysteine and lower betaine increase the risk of microangiopathy in patients with diabetes mellitus carrying the GG genotype of PEMT G774C.
    Chen L, Chen YM, Wang LJ, Wei J, Tan YZ, Zhou JY, Yang Y, Chen YM, Ling WH, Zhu HL.

    06/14/2014
    PEMT is a functional single nucleotide polymorphism (rs7946) in PEMT with sporadic Alzheimer's disease risk in a Han Chinese population.

    PEMT G523A (V175M) is associated with sporadic Alzheimer's disease in a Chinese population.
    Bi XH, Zhao HL, Zhang ZX, Zhang JW.

    03/2/2013
    the PEMT -774G>C and CHDH +432G>T polymorphisms were associated with sperm concentration. This finding suggests a possible influence of these genes on sperm quality

    Phosphatidylethanolamine N-methyltransferase and choline dehydrogenase gene polymorphisms are associated with human sperm concentration.
    Lazaros L, Xita N, Hatzi E, Kaponis A, Makrydimas G, Takenaka A, Sofikitis N, Stefos T, Zikopoulos K, Georgiou I., Free PMC Article

    01/26/2013
    genetic association studies on endometriosis in a population of women in Poland: Data suggest interaction between an SNP in PEMT (rs4244593) and an SNP in MTHFR (Ala222Val; rs1801133) in infertile women with some indication of endometriosis.

    Polymorphic variants of folate and choline metabolism genes and the risk of endometriosis-associated infertility.
    Szczepańska M, Mostowska A, Wirstlein P, Lianeri M, Marianowski P, Skrzypczak J, Jagodziński PP.

    10/29/2011
    nvestigation of factors affecting liver PEMT activity: PEMT activity is lower in liver samples from women who are homozygous for an SNP in PEMT (rs12325817)

    Docosahexaenoic acid in plasma phosphatidylcholine may be a potential marker for in vivo phosphatidylethanolamine N-methyltransferase activity in humans.
    da Costa KA, Sanders LM, Fischer LM, Zeisel SH., Free PMC Article

    07/16/2011
    allele-specific ablation of estrogen receptor-DNA interaction in the PEMT locus prevents hormone-inducible PEMT expression, conferring risk of choline deficiency in women

    Aberrant estrogen regulation of PEMT results in choline deficiency-associated liver dysfunction.
    Resseguie ME, da Costa KA, Galanko JA, Patel M, Davis IJ, Zeisel SH., Free PMC Article

    03/5/2011
    Choline requirements for both women are increased by the genetic polymorphism rs12325817 in phosphatidylethanolamine-N-methyltransferase.

    Dietary choline requirements of women: effects of estrogen and genetic variation.
    Fischer LM, da Costa KA, Kwock L, Galanko J, Zeisel SH., Free PMC Article

    11/13/2010
    Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)

    Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S, DREAM investigators., Free PMC Article

    09/15/2010
    Total intake of choline and genotype can influence the concentrations of choline and its metabolites in the breast milk and blood of lactating women and thereby affect the amount of choline available to the developing infant.

    Choline intake and genetic polymorphisms influence choline metabolite concentrations in human breast milk and plasma.
    Fischer LM, da Costa KA, Galanko J, Sha W, Stephenson B, Vick J, Zeisel SH., Free PMC Article

    08/16/2010
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