麻风病是由麻风杆菌引起的一种慢性传染病，主要病变在皮肤和周围神经。临床表现为麻木性皮肤损害、神经粗大，严重者甚至肢端残废。（图）
山东省皮肤病性病防治研究所等单位，通过对10531名麻风病例及健康对照者的研究，发现了2个新的麻风易感基因，并在世界上首次证明了其中1个和传染病有关。同时，通过对迄今已发现的9个麻风易感基因进行综合分析，发现有2个基因具有交互作用，同时存在可成倍增加麻风的患病风险。国际著名学术期刊《自然·遗传学》10月24日在线发表了我国科学家的上述研究成果。这是继2009年我国科学家在世界上首次利用全基因关联分析方法率先发现7个麻风易感基因之后，在该领域取得的又一原创性成果。
2009年，山东省皮肤病性病防治研究所张福仁研究员率领的研究团队，联合安徽医科大学皮肤病研究所张学军教授团队和新加坡国立基因研究院刘建军教授团队，采用全基因组关联分析方法，在国际上率先发现了7个麻风易感基因。
据张福仁研究员介绍，此次研究由上述3个团队再度联手，以山东省皮肤病性病学重点实验室为研究平台，通过扩大对照样本，对24个可疑位点进一步验证，又发现了2个新的麻风易感基因：IL-23R、RAB32，并首次证实IL-23R和传染病有关，该基因影响细胞的“自噬”功能；RAB32与吞噬细胞对病原微生物的识别相关。
该研究团队综合分析了先后发现的9个麻风易感基因，结果显示NOD2与RIPK2具有交互作用，共同激活NF-κB通路，该通路影响宿主对感染的免疫防御，可极大增加麻风的患病风险。
相关英文论文摘要：
Identification of two new loci at IL23R and RAB32 that influence susceptibility to leprosy
We performed a genome-wide association study with 706 individuals with leprosy and 5,581 control individuals and replicated the top 24 SNPs in three independent replication samples, including a total of 3,301 individuals with leprosy and 5,299 control individuals from China. Two loci not previously associated with the disease were identified with genome-wide significance: rs2275606 (combined P = 3.94 × 10−14, OR = 1.30) on 6q24.3 and rs3762318 (combined P = 3.27 × 10−11, OR = 0.69) on 1p31.3. These associations implicate IL23R and RAB32 as new susceptibility genes for leprosy. Furthermore, we identified evidence of interaction between the NOD2 and RIPK2 loci, which is consistent with the biological association of the proteins encoded by these genes (NOD2-RIPK2 complex) in activating the NF-κB pathway as a part of the host defense response to infection. Our findings have expanded the biological functions of IL23R by uncovering its involvement in infectious disease susceptibility and suggest a potential involvement of autophagocytosis in leprosy pathogenesis. The IL23R association supports previous observations of the marked overlap of susceptibility genes for leprosy and Crohn's disease, implying common pathogenesis mechanisms.
英文论文链接：https://www.nature.com/ng/journal/vaop/ncurrent/full/ng.973.html
