Graduate Institute of Life Sciences, National Defense Medical Center, Taipei, Taiwan, ROC.
School of Public Health, National Defense Medical Center, Taipei, Taiwan, ROC.
J Chin Med Assoc. 2021 May 1;84(5):523-527. doi: 10.1097/JCMA.0000000000000515.
Osteoarthritis (OA) is a multifactorial disease that is associated with several genetic factors. TFAP2A with a motif of C allele at rs6426749 demonstrates a higher binding ability, thereby increasing CDC42 expression, potentially affecting OA occurrence. In this study, we evaluated the role of rs6426749 polymorphisms on knee OA in a female Taiwanese population.
We performed a case-control study of 368 OA cases and 379 controls between March 2017 and October 2018. Knee OA was defined using the Kellgren-Lawrence grading system, and genotypes were determined using the Sequenom MassArray iPLEX Gold assay. Stratified sex and body mass index (BMI) analyses were performed using logistic regression to explore interactions between genes and the environment. We also used expression quantitative trait loci data from the genotype-tissue expression project to conduct functional analyses.
The C allele of rs6426749 was associated with the risk of knee OA (odds ratio [OR] = 1.31, 95% confidence interval [CI], 1.01-1.71; p = 0.042), after adjusting for gender, age, and BMI. In addition, subgroup analyses indicated that females expressing C alleles showed an increased risk for knee OA (OR = 1.56; 95% CI, 1.12-2.18; p = 0.009). Females with a normal BMI and the C allele had the highest OA risk (OR = 1.73; 95% CI, 1.08-2.76; p = 0.022).
Our findings indicated that rs6426749 may be related to OA susceptibility in the Taiwanese population. This was particularly true for women with normal BMI.
骨关节炎（OA）是一种多因素疾病，与多种遗传因素有关。rs6426749 处 C 等位基因的 TFAP2A 表现出更高的结合能力，从而增加 CDC42 的表达，可能会影响 OA 的发生。在这项研究中，我们评估了 rs6426749 多态性在台湾女性人群膝骨关节炎中的作用。
我们进行了一项病例对照研究，纳入了 2017 年 3 月至 2018 年 10 月的 368 例 OA 病例和 379 例对照。膝骨关节炎采用 Kellgren-Lawrence 分级系统定义，基因型采用Sequenom MassArray iPLEX Gold assay 测定。采用逻辑回归进行分层性别和体重指数（BMI）分析，以探讨基因与环境之间的相互作用。我们还使用基因型-组织表达项目的表达数量性状基因座数据进行功能分析。
rs6426749 的 C 等位基因与膝骨关节炎的风险相关（比值比[OR] = 1.31，95%置信区间[CI]，1.01-1.71；p = 0.042），调整性别、年龄和 BMI 后。此外，亚组分析表明，表达 C 等位基因的女性患膝骨关节炎的风险增加（OR = 1.56；95%CI，1.12-2.18；p = 0.009）。正常 BMI 且携带 C 等位基因的女性患 OA 的风险最高（OR = 1.73；95%CI，1.08-2.76；p = 0.022）。
我们的研究结果表明，rs6426749 可能与台湾人群的 OA 易感性有关。对于 BMI 正常的女性尤其如此。
