Department of Epidemiology and Health Statistics, Public Health College, Qingdao University, No. 38 Dengzhou Road, Shibei District, Qingdao, 266021, Shandong Province, People's Republic of China.
Department of Otorhinolaryngology, Qingdao Municipal Hospital, Qingdao, 266011, Shandong Province, People's Republic of China.
BMC Med Genomics. 2021 Jul 28;14(1):193. doi: 10.1186/s12920-021-01044-4.
Age-related hearing impairment (ARHI) has attracted increasing attention recently. It is caused by genetic and environmental factors. A number of ARHI-related genes have been found. This study aimed to detect the potential association between NR3C1 gene polymorphisms and ARHI by means of weighted allele score.
A total of 861 participants from Qingdao city were selected by means of cluster random sampling. We statistically evaluated the characteristics of individuals and used the Mann-Whitney U test or chi-square test for comparison. The publicly available expression quantitative trait locus (eQTL) was queried on the website of the Genotype-Tissue Expression (GTEx). We used the weighted allele score and logistic regression analysis to explore the association between NR3C1 gene polymorphisms and ARHI. Finally, the prediction model was constructed by logistic regression and receiver operating characteristic (ROC) curve.
All individuals over 60 years of age were enrolled in this study. The allele of rs61757411, rs41423247 and rs6877893 were significantly different between the ARHI group and the normal hearing group (P < 0.01). Though eQTL analysis, rs6877893 and rs33388 might affect the occurrence of ARHI by affecting the expression of NR3C1 gene in artery aorta. Then we performed two models: one without adding any covariates into model and the other adjusting for demographic characteristic, smoking and drinking, diet and exercise, and physical conditions. In the multivariate-adjusted model 2, the odds ratio with 95% confidence interval for weighted allele score (NR3C1) was 0.841 (0.710-0.995, P = 0.043). The area under the ROC curve was 0.755, indicating that the model had good predictability.
Our study suggests that NR3C1 gene polymorphisms was significantly associated with ARHI.
年龄相关性听力损失(ARHI)最近受到越来越多的关注。它是由遗传和环境因素引起的。已经发现了一些与 ARHI 相关的基因。本研究旨在通过加权等位基因评分来检测 NR3C1 基因多态性与 ARHI 之间的潜在关联。
通过整群随机抽样,从青岛市选取了 861 名参与者。我们对个体特征进行了统计学评估,并使用曼-惠特尼 U 检验或卡方检验进行比较。在基因型-组织表达(GTEx)网站上查询了公开的表达数量性状基因座(eQTL)。我们使用加权等位基因评分和逻辑回归分析来探讨 NR3C1 基因多态性与 ARHI 之间的关系。最后,通过逻辑回归和受试者工作特征(ROC)曲线构建预测模型。
所有 60 岁以上的个体均纳入本研究。ARHI 组和正常听力组之间 rs61757411、rs41423247 和 rs6877893 的等位基因存在显著差异(P<0.01)。通过 eQTL 分析,rs6877893 和 rs33388 可能通过影响动脉血管 NR3C1 基因的表达来影响 ARHI 的发生。然后我们进行了两个模型:一个模型没有加入任何协变量,另一个模型调整了人口统计学特征、吸烟和饮酒、饮食和运动以及身体状况。在多变量调整模型 2 中,加权等位基因评分(NR3C1)的 95%置信区间的比值比为 0.841(0.710-0.995,P=0.043)。ROC 曲线下面积为 0.755,表明该模型具有良好的预测能力。
本研究表明,NR3C1 基因多态性与 ARHI 显著相关。