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Título : Genetic polymorphisms in folate pathway enzymes, DRD4 and GSTM1 are related to temporomandibular disorder
Autor : Aneiros-Guerrero, Ángel
Lendínez, Ana M
Palomares, Arturo R
Pérez-Nevot, Beatriz
Aguado, Lidia
Mayor-Olea, Alvaro
Ruiz-Galdón, Maximiliano
Reyes-Éngel, Armando
Filiación: [Aneiros-Guerrero,A; Lendínez,AM; Palomares, AR; Aguado,L; Mayor-Olea,A; Ruiz-Galdón,M; Reyes-Éngel,A] Department of Biochemistry and Molecular Biology, Faculty of Medicine, University of Málaga, Spain. [Pérez Nevot,B; Ruiz-Galdón,M] Hospital Universitario Virgen de la Victoria, Málaga, Spain.
Palabras clave : Receptors, Dopamine D4;Folic Acid;methionine synthase reductase;Ferredoxin-NADP Reductase;Methylenetetrahydrofolate Dehydrogenase (NADP);Glycine Hydroxymethyltransferase;SHMT1 protein, human;Glutathione Transferase;glutathione S-transferase M1;DRD4 protein, human
MeSH: Medical Subject Headings::Named Groups::Persons::Age Groups::Adult
Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Epidemiologic Study Characteristics as Topic::Epidemiologic Studies::Case-Control Studies
Medical Subject Headings::Check Tags::Female
Medical Subject Headings::Chemicals and Drugs::Enzymes and Coenzymes::Enzymes::Oxidoreductases::Oxidoreductases Acting on Sulfur Group Donors::Ferredoxin-NADP Reductase
Medical Subject Headings::Chemicals and Drugs::Heterocyclic Compounds::Heterocyclic Compounds, 2-Ring::Pteridines::Pterins::Folic Acid
Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Genetic Techniques::Genetic Association Studies
Medical Subject Headings::Chemicals and Drugs::Enzymes and Coenzymes::Enzymes::Transferases::Alkyl and Aryl Transferases::Glutathione Transferase
Medical Subject Headings::Chemicals and Drugs::Enzymes and Coenzymes::Enzymes::Transferases::One-Carbon Group Transferases::Hydroxymethyl and Formyl Transferases::Glycine Hydroxymethyltransferase
Medical Subject Headings::Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans
Medical Subject Headings::Check Tags::Male
Medical Subject Headings::Chemicals and Drugs::Enzymes and Coenzymes::Enzymes::Oxidoreductases::Oxidoreductases Acting on CH-NH Group Donors::Methylenetetrahydrofolate Dehydrogenase (NADP)
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::Mutation
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::Polymorphism, Genetic
Medical Subject Headings::Phenomena and Processes::Genetic Phenomena::Genetic Variation::Polymorphism, Genetic::Polymorphism, Single Nucleotide
Medical Subject Headings::Chemicals and Drugs::Amino Acids, Peptides, and Proteins::Proteins::Membrane Proteins::Receptors, Cell Surface::Receptors, Biogenic Amine::Receptors, Catecholamine::Receptors, Dopamine::Receptors, Dopamine D2::Receptors, Dopamine D4
Medical Subject Headings::Analytical, Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Statistics as Topic::Probability::Risk
Medical Subject Headings::Health Care::Health Care Quality, Access, and Evaluation::Quality of Health Care::Epidemiologic Factors::Sex Factors
Medical Subject Headings::Diseases::Musculoskeletal Diseases::Joint Diseases::Temporomandibular Joint Disorders
Medical Subject Headings::Named Groups::Persons::Age Groups::Adult::Young Adult
Medical Subject Headings::Named Groups::Persons::Age Groups::Adolescent
Fecha de publicación : 26-may-2011
Editorial : Biomed Central Ltd
Cita Bibliográfica: Aneiros-Guerrero A, Lendinez AM, Palomares AR, Perez-Nevot B, Aguado L, Mayor-Olea A, et al. Genetic polymorphisms in folate pathway enzymes, DRD4 and GSTM1 are related to temporomandibular disorder. BMC Med. Genet.; 12:75
Abstract: BACKGROUND Temporomandibular disorder (TMD) is a multifactorial syndrome related to a critical period of human life. TMD has been associated with psychological dysfunctions, oxidative state and sexual dimorphism with coincidental occurrence along the pubertal development. In this work we study the association between TMD and genetic polymorphisms of folate metabolism, neurotransmission, oxidative and hormonal metabolism. Folate metabolism, which depends on genes variations and diet, is directly involved in genetic and epigenetic variations that can influence the changes of last growing period of development in human and the appearance of the TMD. METHODS A case-control study was designed to evaluate the impact of genetic polymorphisms above described on TMD. A total of 229 individuals (69% women) were included at the study; 86 were patients with TMD and 143 were healthy control subjects. Subjects underwent to a clinical examination following the guidelines by the Research Diagnostic Criteria for Temporomandibular Disorders (RDC/TMD). Genotyping of 20 Single Nucleotide Polymorphisms (SNPs), divided in two groups, was performed by multiplex minisequencing preceded by multiplex PCR. Other seven genetic polymorphisms different from SNPs (deletions, insertions, tandem repeat, null genotype) were achieved by a multiplex-PCR. A chi-square test was performed to determine the differences in genotype and allelic frequencies between TMD patients and healthy subjects. To estimate TMD risk, in those polymorphisms that shown significant differences, odds ratio (OR) with a 95% of confidence interval were calculated. RESULTS Six of the polymorphisms showed statistical associations with TMD. Four of them are related to enzymes of folates metabolism: Allele G of Serine Hydoxymethyltransferase 1 (SHMT1) rs1979277 (OR = 3.99; 95%CI 1.72, 9.25; p = 0.002), allele G of SHMT1 rs638416 (OR = 2.80; 95%CI 1.51, 5.21; p = 0.013), allele T of Methylentetrahydrofolate Dehydrogenase (MTHFD) rs2236225 (OR = 3.09; 95%CI 1.27, 7.50; p = 0.016) and allele A of Methionine Synthase Reductase (MTRR) rs1801394 (OR = 2.35; 95CI 1.10, 5.00; p = 0.037). An inflammatory oxidative stress enzyme, Gluthatione S-Tranferase Mu-1(GSTM1), null allele (OR = 2.21; 95%CI 1.24, 4.36; p = 0.030) and a neurotransmission receptor, Dopamine Receptor D4 (DRD4), long allele of 48 bp-repeat (OR = 3.62; 95%CI 0.76, 17.26; p = 0.161). CONCLUSIONS Some genetic polymorphisms related to folates metabolism, inflammatory oxidative stress, and neurotransmission responses to pain, has been significantly associated to TMD syndrome.
Descripción : Journal Article; Research Support, Non-U.S. Gov't;
URI: http://hdl.handle.net/10668/615
Versión del editor : http://www.biomedcentral.com/1471-2350/12/75
DOI: 10.1186/1471-2350-12-75
ISSN : 1471-2350
Aparece en las colecciones: 01- Artículos - Hospital Virgen de la Victoria

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