Genetic variants of complement genes Ficolin-2, Mannose-binding lectin and Complement factor H are associated with leprosy in Han Chinese from Southwest China
Genetic variants of complement genes Ficolin-2, Mannose-binding lectin and Complement factor H are associated with leprosy in Han Chinese from Southwest China
复制标题
补体基因 Ficolin-2、甘露糖结合凝集素和补体因子 H 的遗传变异与中国西南汉族麻风病相关
DOI：
10.1007/s00439-013-1273-8
复制
发表时间：
2013-06-01
期刊：
影响因子：
5.3
通讯作者：
Yao, Yong-Gang
中科院分区：
文献类型：
--
作者：
Zhang, Deng-Feng;Huang, Xian-Qiong;Yao, Yong-Gang
补体系统在宿主防御感染中发挥多种作用，并被认为赋予麻风病遗传易感性。我们的目的是研究参与补体系统激活和调节的 Ficolin-2 (FCN2)、甘露糖结合凝集素 (MBL2) 和补体因子 H (CFH) 基因的遗传变异是否与中国西南汉族人的麻风病相关。本研究从中国云南省招募了 527 名麻风患者和 583 名匹配对照者，并进行了分析。我们对FCN2和MBL2基因的启动子区域以及FCN2基因的外显子8进行了测序，并对CFH基因的三个标签SNP进行了基因分型。进行关联分析以辨别这三个基因与麻风病及其亚型的潜在影响。使用荧光素酶测定来表征 FCN2 和 MBL2 基因的不同启动子等位基因的作用。 FCN2（rs3811140和rs7851696）、MBL2（rs11003125、rs7100749、rs11003124和rs7096206）和CFH（rs1065489和rs3753395）的遗传变异与麻风病及其亚型显着相关。代表低 FCN2 和 MBL2 转录活性的单倍型/基因型赋予少杆菌性麻风病风险。我们的数据证实了汉族人中补体基因与麻风易感性和临床结果的预期正相关。
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.