机构：[1]Key Laboratory of Animal Models and Human Disease Mechanisms of the Chinese Academy of Sciences & Yunnan Province, KIZ/CUHK Joint Laboratory of Bioresources and Molecular Research in Common Diseases, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, China[2]Center for Excellence in Animal Evolution and Genetics, Chinese Academy of Sciences, Kunming, China[3]Kunming College of Life Science, University of Chinese Academy of Sciences, Kunming, China[4]College of Life Sciences, Anhui Normal University, Wuhu, China[5]Center for Excellence in Brain Science and Intelligence Technology, Chinese Academy of Sciences, Shanghai, China[6]Department of Dermatology, the First Affiliated Hospital of Kunming Medical University, Kunming, China昆明医科大学附属第一医院
Previous genotyping-based assays have identified non-coding variants of several interleukins (ILs) being associated with genetic susceptibility to leprosy. However, understanding of the involvement of coding variants within all IL family genes in leprosy was still limited. To obtain the full mutation spectrum of all ILs in leprosy, we performed a targeted deep sequencing of coding regions of 58 ILs genes in 798 leprosy patients (age 56.2 +/- 14.4; female 31.5%) and 990 healthy controls (age 38.1 +/- 14.0; female 44.3%) from Yunnan, Southwest China. mRNA expression alterations of ILs in leprosy skin lesions or in response to M. leprae treatment were estimated by using publicly available expression datasets. Two coding variants in IL27 (rs17855750, p.S59A, p = 4.02 x 10(-8), odds ratio [OR] = 1.748) and IL1RN (rs45507693, p.A106T, p = 1.45 x 10(-5), OR = 3.629) were significantly associated with leprosy risk. mRNA levels of IL27 and IL1RN were upregulated in whole blood cells after M. leprae stimulation. These data showed that IL27 and IL1RN are leprosy risk genes. Further functional study is required for characterizing the exact role of ILs in leprosy.
基金：
Applied Basic Research Foundation of Yunnan Province [2019FA009, 2019FI015]; National Natural Science Foundation of ChinaNational Natural Science Foundation of China (NSFC) [82022017]
第一作者机构：[1]Key Laboratory of Animal Models and Human Disease Mechanisms of the Chinese Academy of Sciences & Yunnan Province, KIZ/CUHK Joint Laboratory of Bioresources and Molecular Research in Common Diseases, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, China[2]Center for Excellence in Animal Evolution and Genetics, Chinese Academy of Sciences, Kunming, China[3]Kunming College of Life Science, University of Chinese Academy of Sciences, Kunming, China[*1]Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming 650204, China
共同第一作者：
通讯作者：
通讯机构：[1]Key Laboratory of Animal Models and Human Disease Mechanisms of the Chinese Academy of Sciences & Yunnan Province, KIZ/CUHK Joint Laboratory of Bioresources and Molecular Research in Common Diseases, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, China[2]Center for Excellence in Animal Evolution and Genetics, Chinese Academy of Sciences, Kunming, China[3]Kunming College of Life Science, University of Chinese Academy of Sciences, Kunming, China[5]Center for Excellence in Brain Science and Intelligence Technology, Chinese Academy of Sciences, Shanghai, China[*1]Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming 650204, China
推荐引用方式(GB/T 7714)：
Zhang Deng-Feng,Li Hui-Long,Zheng Quanzhen,et al.Mapping leprosy-associated coding variants of interleukin genes by targeted sequencing[J].CLINICAL GENETICS.2021,99(6):802-811.doi:10.1111/cge.13945.
APA：
Zhang, Deng-Feng,Li, Hui-Long,Zheng, Quanzhen,Bi, Rui,Xu, Min...&Yao, Yong-Gang.(2021).Mapping leprosy-associated coding variants of interleukin genes by targeted sequencing.CLINICAL GENETICS,99,(6)
MLA：
Zhang, Deng-Feng,et al."Mapping leprosy-associated coding variants of interleukin genes by targeted sequencing".CLINICAL GENETICS 99..6(2021):802-811
