Laboratoire de Génétique des Maladies Infectieuses, Institut National de la Santé et de la Recherche Médicale, University Paris Descartes, Sorbonne Paris Cité, Necker Medical School, Paris, France.
J Infect Dis. 2012 Dec 1;206(11):1763-7. doi: 10.1093/infdis/jis588. Epub 2012 Sep 14.
A genomewide association study in Chinese patients with leprosy detected association signals in 16 single-nucleotide polymorphisms (SNPs) belonging to 6 loci, of which 4 are related to the NOD2 signaling pathway and are Crohn's disease susceptibility loci. Here, we studied these 16 SNPs as potential leprosy susceptibility factors in 474 Vietnamese leprosy simplex families. We replicated SNPs at HLA-DR-DQ, RIPK2, CCDC122-LACC1, and NOD2 as leprosy susceptibility factors in Vietnam. These results validated the striking overlap in the genetic control of Crohn's disease and leprosy.
在中国麻风病患者的全基因组关联研究中,在属于 6 个基因座的 16 个单核苷酸多态性(SNP)中检测到关联信号,其中 4 个与 NOD2 信号通路有关,是克罗恩病易感性基因座。在这里,我们在 474 个越南单纯性麻风病家庭中研究了这 16 个 SNP 是否为潜在的麻风病易感因素。我们在越南复制了 HLA-DR-DQ、RIPK2、CCDC122-LACC1 和 NOD2 中的 SNP,作为麻风病的易感因素。这些结果验证了克罗恩病和麻风病在遗传控制上的惊人重叠。