Shen Te-Chun, Chen Guan-Liang, Chen Li-Hsiou, Wang Yun-Chi, Shih Hou-Yu, Yang Ya-Chen, Tsai Chia-Wen, Chang Wen-Shin, Hsia Te-Chun, Bau DA-Tian
Division of Pulmonary and Critical Care Medicine, Department of Internal Medicine, China Medical University Hospital, Taichung, Taiwan, R.O.C.
School of Medicine, College of Medicine, China Medical University, Taichung, Taiwan, R.O.C.
In Vivo. 2025 Sep-Oct;39(5):2562-2572. doi: 10.21873/invivo.14057.
BACKGROUND/AIM: Asthma is a complex inflammatory airway disease influenced by genetic and environmental factors. , particularly its promoter polymorphism rs1800925 and coding variant rs20541, have been implicated in asthma pathogenesis. This study investigated their associations with asthma susceptibility and severity in a Taiwanese population.
A total of 198 adult patients with asthma and 453 controls without asthma were genotyped for rs1800925 and rs20541 using PCR-based assays. Associations with disease risk, age, sex, and asthma severity were analyzed using logistic regression models.
Genotype frequencies of rs1800925 and rs20541 conformed to Hardy-Weinberg equilibrium in controls ( =0.1209 and 0.6860). No significant association was found between asthma risk and rs1800925 [CT CC: odds ratio (OR)=1.16, 95% confidence interval (CI)=0.80-1.65, =0.4793; TT CC: OR=1.31, 95%CI=0.70-2.45, =0.5043] or rs20541 (AG GG: OR=0.93, 95%CI=0.66-1.33, =0.7652; AA GG: OR=0.84, 95%CI=0.46-1.51, =0.6577). However, stratified analysis revealed that among individuals aged 25-40, the rs1800925 TT genotype was associated with increased asthma risk (OR=2.16, 95%CI=1.02-4.56, =0.0637). Notably, rs1800925 CT and TT genotypes were significantly associated with severe asthma symptoms (CT CC: OR=2.11, =0.0287; TT CC: OR=4.83, =0.0057), with carriers of CT+TT genotypes having higher odds of severe asthma (OR=2.46, 95%CI=1.36-4.45, =0.0041).
While rs1800925 and rs20541 polymorphisms were not significantly associated with overall asthma susceptibility, the rs1800925 TT genotype may confer increased risk in younger adults and is significantly linked to more severe asthma severity. rs1800925 may serve as a potential genetic biomarker for asthma severity prediction and management in Taiwanese populations.
背景/目的:哮喘是一种受遗传和环境因素影响的复杂的气道炎症性疾病。特别是其启动子多态性rs1800925和编码变异rs20541,已被认为与哮喘发病机制有关。本研究调查了它们与台湾人群哮喘易感性和严重程度的关联。
使用基于聚合酶链反应(PCR)的检测方法,对198例成年哮喘患者和453例无哮喘的对照者进行rs1800925和rs20541基因分型。使用逻辑回归模型分析与疾病风险、年龄、性别和哮喘严重程度的关联。
rs1800925和rs20541的基因型频率在对照者中符合哈迪-温伯格平衡(P = 0.1209和0.6860)。未发现哮喘风险与rs1800925 [CT对CC:优势比(OR)= 1.16,95%置信区间(CI)= 0.80 - 1.65,P = 0.4793;TT对CC:OR = 1.31,95%CI = 0.70 - 2.45,P = 0.5043] 或rs20541(AG对GG:OR = 0.93,95%CI = 0.66 - 1.33,P = 0.7652;AA对GG:OR = 0.84,95%CI = 0.46 - 1.51,P = 0.6577)之间存在显著关联。然而,分层分析显示,在25 - 40岁的个体中,rs1800925 TT基因型与哮喘风险增加相关(OR = 2.16,95%CI = 1.02 - 4.56,P = 0.0637)。值得注意的是,rs1800925 CT和TT基因型与严重哮喘症状显著相关(CT对CC:OR = 2.11,P = 0.0287;TT对CC:OR = 4.83,P = 0.0057),CT + TT基因型携带者患严重哮喘的几率更高(OR = 2.46,95%CI = 1.36 - 4.45,P = 0.0041)。
虽然rs1800925和rs20541多态性与总体哮喘易感性无显著关联,但rs1800925 TT基因型可能使年轻成年人的风险增加,且与更严重的哮喘严重程度显著相关。rs1800925可能作为台湾人群哮喘严重程度预测和管理的潜在遗传生物标志物。