Genetic variants of complement genes Ficolin-2, Mannose-binding lectin and Complement factor H are associated with leprosy in Han Chinese from Southwest China

• Published in: Human genetics 2013-06, Vol.132 (6), p.629-640
• Main Authors: Zhang, Deng-Feng, Huang, Xian-Qiong, Wang, Dong, Li, Yu-Ye, Yao, Yong-Gang
• Format: Article
• Language: English
• Subjects: Analysis; Asian People; Association analysis; Biomedical and Life Sciences; Biomedicine; Case-Control Studies; Chemical properties; China; Clinical outcomes; Complement Factor H - genetics; Ficolins; Gene Function; Genes; Genetic Association Studies; Genetic Predisposition to Disease; Health aspects; Human Genetics; Humans; Lectins; Lectins - genetics; Leprosy; Leprosy - ethnology; Leprosy - genetics; Luciferase; Mannose-Binding Lectin - genetics; Metabolic Diseases; Molecular Medicine; Monosaccharides; Original Investigation; Pathogens; Polymorphism, Single Nucleotide; Sugars; Zoology
• ISSN: 0340-6717; 1432-1203
• DOI: 10.1007/s00439-013-1273-8

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 ), Mannose - binding 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 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.