Yang Liulin, Peng Bichen, Wu Yuanning, Ye Weiyi, Wang Xianjin, Zhang Qingyi, Meng Ziang, Wu Qinfeng, Jiang Yue, Li Linzehao, Song Yingchao, Zhi Lili, Chang Xiao, Dong Liang, Shao Lei
Electrical Engineering College, Guangxi University, Nanning, 530004, China.
College of Medical Information and Artificial Intelligence, Shandong First Medical University & Shandong Academy of Medical Sciences, Shandong, 250117, China.
Sci Rep. 2025 Jul 2;15(1):23057. doi: 10.1038/s41598-025-07100-8.
Allergic rhinitis (AR) is a nasal inflammation triggered by the immune system's response to airborne allergens, with white blood cells playing a crucial role in the development of allergic symptoms. This study aimed to investigate the genetic correlations between AR and various blood traits in European and East Asian populations using linkage disequilibrium score regression (LDSC). By leveraging GWAS summary statistics, we identified significant genetic overlap between AR and eosinophil counts in both populations. Cross-trait analysis revealed 52 pleiotropic loci associated with AR and eosinophil counts in Europeans, while 12 novel loci were discovered in East Asians. Among these, five loci, including IL1RL1 and IL4R, were shared between Europeans and East Asians. Additionally, we identified a novel East Asian-specific locus near the CD28 gene. Differential gene expression analysis further showed that CD28 expression was significantly lower in AR patients compared to healthy controls, suggesting its potential involvement in AR pathogenesis. These findings underscore the utility of multi-trait GWAS in uncovering pleiotropic loci and provide new insights into the genetic architecture of AR, particularly emphasizing population-specific loci like CD28. This research opens avenues for understanding the genetic basis of AR and developing targeted therapies.
变应性鼻炎（AR）是一种由免疫系统对空气中过敏原的反应引发的鼻腔炎症，白细胞在变应性症状的发展中起关键作用。本研究旨在利用连锁不平衡评分回归（LDSC）研究欧洲和东亚人群中AR与各种血液性状之间的遗传相关性。通过利用全基因组关联研究（GWAS）汇总统计数据，我们在这两个人群中均发现AR与嗜酸性粒细胞计数之间存在显著的遗传重叠。跨性状分析揭示了欧洲人群中52个与AR和嗜酸性粒细胞计数相关的多效性位点，而在东亚人群中发现了12个新位点。其中，包括IL1RL1和IL4R在内的5个位点在欧洲人和东亚人之间共享。此外，我们在CD28基因附近鉴定出一个新的东亚特异性位点。差异基因表达分析进一步表明，与健康对照相比，AR患者中CD28表达显著降低，提示其可能参与AR发病机制。这些发现强调了多性状GWAS在揭示多效性位点方面的实用性，并为AR的遗传结构提供了新的见解，尤其强调了像CD28这样的人群特异性位点。这项研究为理解AR的遗传基础和开发靶向治疗开辟了道路。
