Genetic variants of complement genes Ficolin-2, Mannose-binding lectin and Complement factor H are associated with lepro
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ORIGINAL INVESTIGATION
Genetic variants of complement genes Ficolin-2, Mannose-binding lectin and Complement factor H are associated with leprosy in Han Chinese from Southwest China Deng-Feng Zhang • Xian-Qiong Huang • Dong Wang • Yu-Ye Li • Yong-Gang Yao
Received: 3 December 2012 / Accepted: 5 February 2013 / Published online: 20 February 2013 Ó Springer-Verlag Berlin Heidelberg 2013
Abstract The complement system plays multiple roles in host defense against infection and is supposed to confer genetic susceptibility to leprosy. We aimed to examine whether genetic variants of the Ficolin-2 (FCN2), Mannosebinding lectin (MBL2) and Complement factor H (CFH) genes, which are involved in activation and regulation of the complement system, are associated with leprosy in Han Chinese from Southwest China. 527 leprosy patients and 583 matched controls were recruited from Yunnan Province, China, and were analyzed in this study. We sequenced the promoter region of the FCN2 and MBL2 genes and exon 8 of the FCN2 gene and genotyped three tag SNPs of the CFH gene. Association analysis was performed to discern potential effect of these three genes with leprosy and its subtypes. Luciferase assay was used to characterize the role of different promoter alleles of the FCN2 and MBL2 genes. Genetic variants of FCN2 (rs3811140 and rs7851696), MBL2 (rs11003125, rs7100749, rs11003124 and rs7096206) and
Electronic supplementary material The online version of this article (doi:10.1007/s00439-013-1273-8) contains supplementary material, which is available to authorized users. D.-F. Zhang D. Wang Y.-G. Yao (&) Key Laboratory of Animal Models and Human Disease Mechanisms of the Chinese Academy of Sciences and Yunnan Province, Kunming Institute of Zoology, Kunming, Yunnan 650223, China e-mail: [email protected]; [email protected] D.-F. Zhang D. Wang University of Chinese Academy of Sciences, Beijing 100049, China X.-Q. Huang Y.-Y. Li Department of Dermatology, The First Affiliated Hospital of Kunming Medical University, Kunming, Yunnan 650032, China
CFH (rs1065489 and rs3753395) were significantly associated with leprosy and its subtypes. Haplotypes/genotypes representing low FCN2 and MBL2 transcriptional activity conferred risk to paucibacillary leprosy. Our data confirmed the expected positive association of complement genes with leprosy susceptibility and clinical outcomes in Han Chinese.
Introduction Leprosy is a chronic endemic infectious disease caused by intracellular pathogen Mycobacterium leprae that affects skin and nerves (Britton and Lockwood 2004). Its clinical form can be classified along a spectrum of five subtypes [tuberculoid (TT), borderline-tuberculoid (BT), mid-borderline leprosy (BB), borderline-lepromatous (BL), and lepromatous (LL)] from tuberculoid leprosy characterized by a strong Th1 cellular immunity to lepromatous leprosy characterized by a strong Th2 humoral immunity, or can be simply classified into two subtypes [paucibacillary (PB; includes TT and BT) and multibacillary (MB; includes BB, BL and LL)] ac
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