目的：探讨ADAMTS14基因rs4747096位点单核苷酸多态性与中国汉族女性颞下颌关节骨关节炎之间的相关性。方法：采用病例-对照研究，纳入213例受试者，均为中国汉族女性，其中病例组103例，健康对照组110例。从采集的外周静脉血中提取基因组DNA，通过聚合酶链式反应扩增目的片段，对反应产物测序确定基因分型并进行统计分析。病例组及实验组的年龄分布采用t检验，基因型及等位基因频率分布采用卡方检验。结果：病例组103例中基因型频率为38.8%（AA）、55.4%（AG）、5.8%（GG），对照组110例中基因型频率为40.9%（AA）、43.6%（AG）、15.5%（GG）。基因型频率在两组中的差异有统计学意义（P=0.047），等位基因频率在两组中差异无统计学意义（P>0.05）。显性遗传模式中，病例组基因型频率为94.2%（AA或AG）、5.8%（GG），对照组基因型频率为84.5%（AA或AG）、15.5%（GG），病例组中AA、AG型明显高于对照组，是发病的风险因素（OR=1.114，95% CI：1.015~1.223，P=0.028）。结论：ADAMTS14基因rs4747096位点的单核苷酸多态性与中国汉族女性人群颞下颌关节骨关节炎之间存在明显相关性，rs4747096位点的单核苷酸多态性在颞下颌关节骨关节炎患者及健康人群中的分布存在差异。

Objective： To investigate the association between single nucleotide polymorphisms (SNP) of ADAMTS14 gene rs4747096 and osteoarthritis of the temporomandibular joint in Chinese Han females. Methods: As a case-control study, a total of 213 Chinese Han females were involved in the present stu-dy, 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 ℃ 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. Results: 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). Conclusion: A significant correlationship was found between the ADAMTS14 (rs4747096) SNP and the temporomandibular joint osteo-arthritis in Chinese Han females. The distribution of rs4747096 may be different between temporomandibular joint osteoarthritis and healthy population.