Gao Yunbo, Li Jingyun, Zhang Yuan, Zhang Luo
1Department of Otolaryngology Head and Neck Surgery, Beijing TongRen Hospital, Capital Medical University, Beijing, 100730 People's Republic of China.
2Beijing Key Laboratory of Nasal Diseases, Beijing Institute of Otolaryngology, No. 17, HouGouHuTong, DongCheng District, Beijing, 100005 People's Republic of China.
Allergy Asthma Clin Immunol. 2020 Feb 11;16:13. doi: 10.1186/s13223-020-0411-9. eCollection 2020.
Allergic rhinitis (AR) is believed to be a complex genetic disease. The last decade has been marked by the publication of more than 20 genome-wide association studies (GWASs) of AR and associated allergic phenotypes and allergic diseases, which have shown allergic diseases and traits to share a large number of genetic susceptibility loci. The aim of present study was therefore to investigate the highly replicated allergy related genes and variants as candidates for AR in Han Chinese subjects.
A total of 762 AR patients and 760 control subjects were recruited, and a total of 58 susceptible variants previously reported to be associated with allergic traits were choose for replication.
Logistic regression analyses revealed that in the co-dominant-effect model as assessed by the AIC, compared with wild-type carriers, significant AR risk were associated with rs9865818 in LPP ( = 0.029, OR = 1.469 for GG vs. AA); rs6554809 in DNAH5 ( = 0.000, OR = 1.597 for TC vs. CC); rs1438673 in WDR36-CAMK4 loci ( = 0.037, OR = 1.396 for CC vs.TT), rs7775228 in HLA region ( = 0.000, OR = 1.589 for TC vs.TT), rs7203459 in CLEC16A ( = 0.025, OR = 0.731 for TC vs. TT).
We replicated Han Chinese AR-specific susceptibility loci in LPP, DNAH5, HLA, CLEC16A and WDR36-CAMK4. Further understanding the molecular mechanisms underlying these associations may provide new insights into the etiology of allergic disease.
变应性鼻炎（AR）被认为是一种复杂的遗传疾病。过去十年间，超过20项关于AR及相关变应性表型和变应性疾病的全基因组关联研究（GWAS）相继发表，这些研究表明变应性疾病和性状共享大量遗传易感性位点。因此，本研究旨在调查高度重复的与过敏相关的基因和变异体，作为汉族人群AR的候选基因。
共招募了762例AR患者和760例对照受试者，并选择了58个先前报道与变应性性状相关的易感变异体进行验证。
逻辑回归分析显示，在AIC评估的共显性效应模型中，与野生型携带者相比，LPP基因中的rs9865818（GG与AA相比，P = 0.029，OR = 1.469）、DNAH5基因中的rs6554809（TC与CC相比，P = 0.000，OR = 1.597）、WDR36-CAMK4基因座中的rs1438673（CC与TT相比，P = 0.037，OR = 1.396）、HLA区域中的rs7775228（TC与TT相比，P = 0.000，OR = 1.589）、CLEC16A基因中的rs7203459（TC与TT相比，P = 0.025，OR = 0.731）与显著的AR风险相关。
我们在汉族人群中验证了LPP、DNAH5、HLA、CLEC16A和WDR36-CAMK4基因中AR特异性的易感位点。进一步了解这些关联背后的分子机制可能为变应性疾病的病因学提供新的见解。
