Shandong Provincial Institute of Dermatology and Venereology, Provincial Academy of Medical Science, Jinan, Shandong, China.
Exp Dermatol. 2011 Jun;20(6):520-2. doi: 10.1111/j.1600-0625.2011.01270.x.
Leprosy is caused by Mycobacterium leprae, and the global registered prevalence of leprosy at the beginning of 2009 stood at 213,036 cases. It has long been thought that leprosy has a strong genetic risk. Recently, we have identified significant associations (P < 1.00 × 10(-10)) between SNPs in the genes CCDC122, C13orf31, NOD2, TNFSF15, HLA-DR and RIPK2 and a trend towards an association (P = 5.10 × 10(-5)) with a SNP in LRRK2. Here, we investigated the expression of these seven genes in formalin-fixed, paraffin-embedded skin tissues of leprosy and matched normal tissues using branched DNA technology. This technology allows for direct measurement of targeted mRNA within cellular lysate using a 96-well plate format in a time frame compared to a reporter gene assay. The clear upregulation of all seven genes was found in leprosy tissues compared to normal tissues, which further supports our genome-wide association study results.
麻风病由麻风分枝杆菌引起，2009 年初全球登记的麻风病患病率为 213036 例。长期以来，人们一直认为麻风病具有很强的遗传风险。最近，我们已经确定了 CCDC122、C13orf31、NOD2、TNFSF15、HLA-DR 和 RIPK2 基因中的 SNP 与麻风病之间存在显著关联（P<1.00×10(-10))，并且与 LRRK2 中的 SNP 呈关联趋势（P=5.10×10(-5))。在这里，我们使用分枝 DNA 技术研究了福尔马林固定、石蜡包埋的麻风病皮肤组织和匹配的正常组织中这七个基因的表达情况。与报告基因检测相比，该技术允许在 96 孔板格式的细胞裂解物中直接测量靶向 mRNA，时间框架更短。与正常组织相比，麻风病组织中这七个基因均明显上调，这进一步支持了我们的全基因组关联研究结果。
