Department of Otolaryngology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
Mediators Inflamm. 2022 Jun 3;2022:7815283. doi: 10.1155/2022/7815283. eCollection 2022.
Allergic rhinitis (AR) is the most frequent inflammatory disorder in the nasal mucosa that remains unclear etiology. Mounting studies suggested that genetic instability could trigger and worsen the inflammatory response. The nucleotide excision repair (NER) system is an important pathway in maintaining the stability of the genome. Therefore, the genetic variations in NER pathway genes may have potential effects on AR risk.
We evaluated the correlation between 19 candidate single nucleotide polymorphisms (SNPs) in NER pathway genes and AR susceptibility by a case-control study in a Chinese population, which contains 508 AR cases and 526 controls.
Three independent SNPs were identified as significantly associated with AR susceptibility, including rs2298881 C > A (recessive model: adjusted odds ratios (OR) = 0.30, 95%confidence interval (CI) = 0.18-0.50, < 0.0001), rs11615 G > A (dominant model: adjusted OR = 1.44, 95%CI = 1.04-2.01, = 0.030), and rs2228001 A > C (dominant model: adjusted OR = 0.68, 95%CI = 0.49-0.95, = 0.024). Stratified analysis showed that rs2298881 AA genotype was correlated with a lower risk of AR among all the subgroups compared with rs2298881 CC/CA genotype. rs2228001 AC/CC genotype reduced AR risk among the following subgroups: age > 60 months, clinical stage I and III.
Our finding showed that genetic variations in NER pathway genes: and may affect the risk of AR, which will provide new insights into the genetics of AR from the perspective of DNA damage repair.
变应性鼻炎（AR）是最常见的鼻腔黏膜炎症性疾病，其病因尚不清楚。越来越多的研究表明，遗传不稳定性可能引发和加重炎症反应。核苷酸切除修复（NER）系统是维持基因组稳定性的重要途径。因此，NER 途径基因的遗传变异可能对 AR 风险有潜在影响。
我们通过在中国人群中进行病例对照研究，评估了 NER 途径基因中 19 个候选单核苷酸多态性（SNP）与 AR 易感性的相关性，该研究包含 508 例 AR 病例和 526 例对照。
确定了三个独立的 SNP 与 AR 易感性显著相关，包括 rs2298881C > A（隐性模型：调整后的优势比（OR）=0.30，95%置信区间（CI）=0.18-0.50，<0.0001），rs11615G > A（显性模型：调整后 OR=1.44，95%CI=1.04-2.01，=0.030）和 rs2228001A > C（显性模型：调整后 OR=0.68，95%CI=0.49-0.95，=0.024）。分层分析显示，与 rs2298881CC/CA 基因型相比，rs2298881AA 基因型与所有亚组的 AR 风险较低相关。rs2228001AC/CC 基因型降低了以下亚组的 AR 风险：年龄>60 个月、临床分期 I 和 III。
我们的研究结果表明，NER 途径基因的遗传变异：和可能影响 AR 的风险，这将从 DNA 损伤修复的角度为 AR 的遗传学提供新的见解。
