Wang D D, Gan Y H, Ma X C, Meng J H
Department of Oral and Maxillofacial Surgery, Peking University School and Hospital of Stomatology & National Engineering Laboratory for Digital and Material Technology of Stomatology & Beijing Key Laboratory of Digital Stomatology, Beijing 100081, China.
Center for Temporomandibular Joint Disorder and Orofacial Pain, Peking University School and Hospital of Stomatology & National Engineering Laboratory for Digital and Material Technology of Stomatology & Beijing Key Laboratory of Digital Stomatology, Beijing 100081, China.
Beijing Da Xue Xue Bao Yi Xue Ban. 2018 Apr 18;50(2):279-283.
To investigate the association between single nucleotide polymorphisms (SNP) of ADAMTS14 gene rs4747096 and osteoarthritis of the temporomandibular joint in Chinese Han females.
As a case-control study, a total of 213 Chinese Han females were involved in the present study, which contained 103 temporomandibular joint osteoarthritis patients and 110 healthy people who had no symptoms or signs of temporomandibular joint osteoarthritis as control. Peripheral blood samples were collected from each participant. Genomic DNAs of temporomandibular joint osteoarthritis patients and healthy control were extracted from peripheral venous blood, which were stored in -80 °C refrigerator by using DNA extraction kits. The designed primers were used for polymerase chain reaction (PCR) amplification of specific DNA fragments. Genotype was determined by sequencing the PCR products. The software Chromas 2.22 was used to analyze the genotype. The genotype distributions, allele frequencies and genetic models between the patients and controls were compared. The age distribution was checked by t-test. Genotype and allele frequency were detected by Chi-square test.
In the present study, there were no significant differences between the osteoarthritis patients and healthy controls in terms of age. The genotype distribution was in accordance with Hardy-Weinberg equilibrium in the two groups. The genotype frequency of the ADAMTS14 (rs4747096) in the experimental group was 38.8% (AA), 55.4% (AG), and 5.8% (GG), respectively. The genotype frequency in the control group was 40.9% (AA), 43.6% (AG), and 15.5% (GG), respectively. The difference of genotype frequency of the ADAMTS14 (rs4747096) was significant between the experimental group and the control group (P=0.047). There was no significant difference in allele frequency between the two groups (P=0.415). AA and AG genotypes significantly increased the risk of the disease compared with GG in dominant model (OR=1.114, 95% CI: 1.015-1.223, P=0.028).
A significant correlationship was found between the ADAMTS14 (rs4747096) SNP and the temporomandibular joint osteoarthritis in Chinese Han females. The distribution of rs4747096 may be different between temporomandibular joint osteoarthritis and healthy population.
探讨ADAMTS14基因rs4747096单核苷酸多态性（SNP）与中国汉族女性颞下颌关节骨关节炎的相关性。
作为一项病例对照研究，本研究共纳入213名中国汉族女性，其中103例为颞下颌关节骨关节炎患者，110例为无颞下颌关节骨关节炎症状或体征的健康人作为对照。采集每位参与者的外周血样本。从外周静脉血中提取颞下颌关节骨关节炎患者和健康对照的基因组DNA，使用DNA提取试剂盒将其保存在-80°C冰箱中。使用设计好的引物对特定DNA片段进行聚合酶链反应（PCR）扩增。通过对PCR产物进行测序来确定基因型。使用Chromas 2.22软件分析基因型。比较患者和对照组之间的基因型分布、等位基因频率和遗传模型。通过t检验检查年龄分布。通过卡方检验检测基因型和等位基因频率。
在本研究中，骨关节炎患者和健康对照在年龄方面无显著差异。两组的基因型分布均符合Hardy-Weinberg平衡。实验组中ADAMTS14（rs4747096）的基因型频率分别为38.8%（AA）、55.4%（AG）和5.8%（GG）。对照组中的基因型频率分别为40.9%（AA）、43.6%（AG）和15.5%（GG）。实验组和对照组之间ADAMTS14（rs4747096）的基因型频率差异具有统计学意义（P=0.047）。两组之间的等位基因频率无显著差异（P=0.415）。在显性模型中，与GG相比，AA和AG基因型显著增加了患病风险（OR=1.114，95%CI：1.015-1.223，P=0.028）。
发现ADAMTS14（rs4747096）SNP与中国汉族女性颞下颌关节骨关节炎之间存在显著相关性。rs4747096的分布在颞下颌关节骨关节炎患者和健康人群之间可能存在差异。
