Genetic polymorphisms in folate pathway enzymes, DRD4 and GSTM1 are related to temporomandibular disorder.
Genetic polymorphisms in folate pathway enzymes, DRD4 and GSTM1 are related to temporomandibular disorder.
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DOI：
10.1186/1471-2350-12-75
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发表时间：
2011-05-26
影响因子：
--
通讯作者：
Reyes-Engel A
中科院分区：
文献类型：
--
作者：
Aneiros-Guerrero A;Lendinez AM;Palomares AR;Perez-Nevot B;Aguado L;Mayor-Olea A;Ruiz-Galdon M;Reyes-Engel A
颞下颌关节紊乱病（Temporomandibular disorder，TMD）是一种多因素综合征，与人类生命的关键时期有关。TMD与心理功能障碍、氧化状态和性二态性有关，并且沿着青春期发育。在这项工作中，我们研究TMD和叶酸代谢，神经传递，氧化和激素代谢的遗传多态性之间的关联。叶酸代谢依赖于基因变异和饮食，直接参与遗传和表观遗传变异，影响人类发育末期的变化和TMD的发生。设计病例对照研究以评估上述遗传多态性对TMD的影响。共有229名个体（69%为女性）被纳入研究; 86名TMD患者和143名健康对照受试者。受试者按照颞下颌关节紊乱病研究诊断标准（RDC/TMD）的指南进行临床检查。20个单核苷酸多态性（SNPs）的基因分型，分为两组，进行了多重微测序之前的多重PCR。采用多重PCR方法检测了与SNP不同的7种基因多态性（缺失、插入、串联重复、无效基因型）。采用卡方检验确定TMD患者和健康受试者的基因型和等位基因频率差异。为了估计TMD的风险，在那些表现出显著差异的多态性中，计算具有95%置信区间的比值比（OR）。其中6个多态性与TMD有统计学关联。其中4个与叶酸代谢相关的酶基因：丝氨酸羟甲基转移酶1（SHMT 1）rs 1979277的G等位基因（OR = 3.99; 95%CI 1.72，9.25; p = 0.002），SHMT 1 rs638416等位基因G（OR = 2.80; 95%CI 1.51，5.21; p = 0.013），亚甲基四氢叶酸脱氢酶（MTHFD）rs 2236225等位基因T（OR = 3.09; 95%CI 1.27，7.50; p = 0.016）和等位基因A（OR = 2.35; 95%CI 1.10，5.00; p = 0.037）。炎症性氧化应激酶谷胱甘肽S-转移酶Mu-1（GSTM 1），无效等位基因（OR = 2.21; 95%CI 1.24，4.36; p = 0.030）和神经传递受体多巴胺受体D4（DRD 4），48 bp重复的长等位基因（OR = 3.62; 95%CI 0.76，17.26; p = 0.161）。某些与叶酸代谢、炎症氧化应激和疼痛神经传递反应相关的基因多态性与TMD综合征显著相关
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. 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. 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). Some genetic polymorphisms related to folates metabolism, inflammatory oxidative stress, and neurotransmission responses to pain, has been significantly associated to TMD syndrome
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DOI：
10.14219/jada.archive.1990.0049
发表时间：
1990-03-01
影响因子：
3.9
作者：
MCNEILL, C;MOHL, ND;TANAKA, TT
通讯作者：
TANAKA, TT
DOI：
10.1111/j.1600-0528.1980.tb01323.x
发表时间：
1980-01-01
影响因子：
2.3
作者：
HEIBERG, A;HELOE, B;NANCE, WE
通讯作者：
NANCE, WE
影响因子：
4
作者：
Ribeiro-Dasilva, Margarete Cristiane;Peres Line, Sergio Roberto;Rizzatti Barbosa, Celia Marisa
通讯作者：
Rizzatti Barbosa, Celia Marisa
DOI：
10.1016/j.ijom.2005.06.009
发表时间：
2006-02-01
影响因子：
2.4
作者：
Lee, DG;Kim, TW;Kim, ST
通讯作者：
Kim, ST
多巴胺 D4 受体（DRD4）外显子 III 重复多态性与 3 岁婴儿性情的关系
影响因子：
2.2
作者：
De Luca, A;Rizzardi, M;Dallapiccola, B
通讯作者：
Dallapiccola, B