Xiao J-L, Meng J-H, Gan Y-H, Zhou C-Y, Ma X-C
Department of Oral and Maxillofacial Surgery, Peking University School and Hospital of Stomatology, Beijing, China.
Center for Temporomandibular Joint Disorder and Orofacial Pain, Peking University School and Hospital of Stomatology, Beijing, China.
J Oral Rehabil. 2015 Jul;42(7):529-36. doi: 10.1111/joor.12286. Epub 2015 Mar 10.
Temporomandibular joint osteoarthritis (TMJOA) is a complex disease and has a strong genetic component in its pathogenesis. Experimental evidence suggests the involvement of biological pathway in the disease. This case-control study was designed to investigate whether five common single nucleotide polymorphisms (SNPs) in GDF5, SMAD3, RUNX2, TGFβ1 and CHST11, respectively, are associated with TMJOA in female Han Chinese patients. A total of 240 participants were evaluated comprising 114 female patients diagnosed with TMJOA based on Research Diagnostic Criteria for Temporomandibular Disorders and 126 healthy female controls. The SNPs of the five genes in the genomic DNA were examined by sequencing, and their allelic, genotypic and carriage rate frequency distributions, as well as the triple combination of the risk genotypes, were analysed using the logistic regression model. The SNP in GDF5 or SMAD3 showed significant association with TMJOA, a relatively weak association was observed in RUNX2. In the triple combinational analysis, the risk of TMJOA grew 5·09 times in the patients with five or six risk alleles (P < 0·01). This is the first study to evaluate the association of GDF5, SMAD3, RUNX2, TGFβ1 and CHST11 with TMJOA in female Han Chinese. Our study suggests that the SNPs of genes related to TGFβ family might contribute to the risk of TMJOA.
颞下颌关节骨关节炎（TMJOA）是一种复杂疾病，其发病机制具有很强的遗传因素。实验证据表明该疾病涉及生物途径。本病例对照研究旨在调查生长分化因子5（GDF5）、SMAD3、RUNX2、转化生长因子β1（TGFβ1）和碳水化合物硫酸酯酶11（CHST11）中的五个常见单核苷酸多态性（SNP）是否与汉族女性TMJOA患者相关。共评估了240名参与者，其中包括114名根据颞下颌关节紊乱病研究诊断标准被诊断为TMJOA的女性患者和126名健康女性对照。通过测序检测基因组DNA中五个基因的SNP，并使用逻辑回归模型分析其等位基因、基因型和携带率频率分布，以及风险基因型的三联组合。GDF5或SMAD3中的SNP与TMJOA显示出显著相关性，RUNX2中观察到相对较弱的相关性。在三联组合分析中，有五个或六个风险等位基因的患者患TMJOA的风险增加了5.09倍（P<0.01）。这是第一项评估GDF5、SMAD3、RUNX2、TGFβ1和CHST11与汉族女性TMJOA相关性的研究。我们的研究表明，与TGFβ家族相关的基因SNP可能会增加患TMJOA的风险。
