Common polymorphisms in the NOD2 gene region are associated with leprosy and its reactive states.
Common polymorphisms in the NOD2 gene region are associated with leprosy and its reactive states.
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DOI：
10.1086/651559
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发表时间：
2010-05-01
期刊：
影响因子：
--
通讯作者：
Hawn TR
中科院分区：
文献类型：
--
作者：
Berrington WR;Macdonald M;Khadge S;Sapkota BR;Janer M;Hagge DA;Kaplan G;Hawn TR
由于广泛的临床表现和明确的免疫并发症，麻风病是研究宿主对感染反应的遗传调控的有用疾病。我们假设NOD2（一种已知可检测分枝杆菌的细胞质受体）的多态性与麻风病易感性及其临床结果有关。我们采用了尼泊尔933例患者的病例对照研究设计，其中包括240例I型（逆转）反应（RR）患者和124例2型（麻风结节性红斑（ENL））反应患者。我们比较了32个常见的NOD2基因区域多态性频率在不同临床类型的麻风病和101个没有麻风病的对照之间。当比较等位基因频率时，有4个多态性与麻风易感性相关，当比较基因型频率与显性模型时，有8个多态性与麻风易感性相关。在等位基因分析中，5个多态性与抗RR相关，7个多态性与显性模型的RR相关。在等位基因分析中，4个多态性与ENL易感性增加相关，而32个多态性中有7个与显性模型相关。这些数据表明，NOD2基因变异与麻风易感性和麻风反应状态的发展有关。
Because of the wide spectrum of clinical manifestations and well-defined immunologic complications, leprosy is a useful disease for studying genetic regulation of the host response to infection. We hypothesized that polymorphisms in NOD2, a cytosolic receptor known to detect mycobacteria, are associated with susceptibility to leprosy and its clinical outcomes. We used a case-control study design with 933 patients in Nepal, which included 240 patients with type I (reversal) reaction (RR), and 124 patients with type 2 (erythema nodosum leprosum (ENL)) reactions. We compared 32 common NOD2 gene region polymorphism frequencies between the different clinical types of leprosy as well as 101 controls without leprosy. Four polymorphisms were associated with leprosy susceptibility when comparing allele frequencies and eight were associated when comparing genotype frequencies with a dominant model. Five polymorphisms were associated with protection from RR in an allelic analysis, and seven were associated with RR with a dominant model. Four polymorphisms were associated with increased susceptibility to ENL in an allelic analysis, while seven of 32 polymorphisms were associated with a dominant model. These data suggest that NOD2 genetic variants are associated with leprosy susceptibility and the development of leprosy reactive states.
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