麻風(fēng)由麻風(fēng)分枝桿菌感染引起,，是一種古老的慢性傳染病,?；颊咄ǔ?huì)出現(xiàn)肢端殘疾、畸形,、失明甚至毀容等癥狀,，飽受社會(huì)的歧視。流行病學(xué)調(diào)查顯示約5%的人群對(duì)麻風(fēng)分枝桿菌易感,。麻風(fēng)臨床癥狀復(fù)雜,，其發(fā)生發(fā)展與機(jī)體的遺傳背景以及免疫狀態(tài)有關(guān)。云南省是我國(guó)麻風(fēng)重災(zāi)區(qū),，目前仍有若干地區(qū)尚未達(dá)到基本消滅麻風(fēng)的目標(biāo),。
補(bǔ)體系統(tǒng)是連接機(jī)體先天免疫與后天免疫的橋梁，表現(xiàn)出豐富的免疫多樣性與遺傳多態(tài)性,，影響機(jī)體對(duì)于傳染病的易感,。前人關(guān)于補(bǔ)體系統(tǒng)與麻風(fēng)易感的研究多基于小樣本，得到的結(jié)論在不同研究中存在差異,。姚永剛課題組的博士生張登峰和合作者針對(duì)來(lái)自云南玉溪地區(qū)較大樣本的麻風(fēng)病例與正常對(duì)照人群,，開(kāi)展了補(bǔ)體系統(tǒng)相關(guān)基因遺傳變異與麻風(fēng)易感的關(guān)聯(lián)分析，發(fā)現(xiàn)補(bǔ)體lectin通路基因FCN2和MBL2,、補(bǔ)體旁路途徑關(guān)鍵調(diào)控基因CFH的遺傳變異影響麻風(fēng)易感,，且FCN2和MBL2基因低轉(zhuǎn)錄活性的啟動(dòng)子單倍型是少菌型麻風(fēng)的風(fēng)險(xiǎn)因素。
該結(jié)果提示補(bǔ)體系統(tǒng)在麻風(fēng)易感中發(fā)揮重要作用,。研究結(jié)果近期發(fā)表在國(guó)際期刊Human Genetics (全文鏈接：http：//link.springer.com/article/10.1007%2Fs00439-013-1273-8)
該研究得到國(guó)家自然科學(xué)基金委,、云南省和中科院的資助。（生物谷Bioon.com）
doi:10.1007%2Fs00439-013-1273-8
PMC:
PMID:
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
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.
