Genetic polymorphisms in folate pathway enzymes, DRD4 and GSTM1 are related to temporomandibular disorder

摘要: Background: Temporomandibular disorder (TMD) is a multifactorial syndrome related to critical period of human life. TMD has been associated with psychological dysfunctions, oxidative state and sexual dimorphism coincidental occurrence along the pubertal development. In this work we study association between genetic polymorphisms folate metabolism, neurotransmission, hormonal metabolism. Folate which depends on genes variations diet, directly involved in epigenetic that can influence changes last growing development appearance TMD. Methods: A case-control was designed evaluate impact above described total 229 individuals (69% women) were included at study; 86 patients 143 healthy control subjects. Subjects underwent clinical examination following guidelines by Research Diagnostic Criteria for Disorders (RDC/TMD). Genotyping 20 Single Nucleotide Polymorphisms (SNPs), divided two groups, performed multiplex minisequencing preceded PCR. Other seven different from SNPs (deletions, insertions, tandem repeat, null genotype) achieved multiplex-PCR. chi-square test determine differences genotype allelic frequencies To estimate risk, those shown significant differences, odds ratio (OR) 95% confidence interval calculated. Results: Six showed statistical associations Four them are enzymes folates metabolism: Allele G Serine Hydoxymethyltransferase 1 (SHMT1) rs1979277 (OR = 3.99; 95%CI 1.72, 9.25; p 0.002), allele SHMT1 rs638416 2.80; 1.51, 5.21; 0.013), T Methylentetrahydrofolate Dehydrogenase (MTHFD) rs2236225 3.09; 1.27, 7.50; 0.016) Methionine Synthase Reductase (MTRR) rs1801394 2.35; 95CI 1.10, 5.00; 0.037). An inflammatory stress enzyme, Gluthatione S-Tranferase Mu-1(GSTM1), 2.21; 1.24, 4.36; 0.030) neurotransmission receptor, Dopamine Receptor D4 (DRD4), long 48 bp-repeat 3.62; 0.76, 17.26; 0.161). Conclusions: Some stress, responses pain, significantly