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首页> 外文期刊>Infection, Genetics and Evolution: Journal of Molecular Epidemiology and Evolutionary Genetics in Infectious Diseases >Genetic variants of the MAVS, MITA and MFN2 genes are not associated with leprosy in Han Chinese from Southwest China
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Genetic variants of the MAVS, MITA and MFN2 genes are not associated with leprosy in Han Chinese from Southwest China

机译：中国西南地区汉人的MAVS，MITA和MFN2基因的遗传变异与麻风病无关

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Leprosy is a chronic infectious disease caused by Mycobacterium leprae (M. leprae), which has massive genomic decay and dependence on host metabolism. Accumulating evidence showed a crucial role of mitochondria inmetabolism and innate immunity. We hypothesized that the mitochondrial-related antimicrobial/antiviral immune genes MAVS (mitochondrial antiviral signaling protein), MITA (mediator of IRF3 activation) and MFN2 (mitofusin 2) would confer a risk to leprosy. In this study, we performed a case-control study to analyze 11 tag and/or non-synonymous SNPs of the MAVS, MITA and MFN2 genes in 527 leprosy patients and 583 healthy individuals, and directly sequenced the three genes in 80 leprosy patients with a family history from Yunnan, Southwest China. We found no association between these SNPs and leprosy (including its subtypes) based on the frequencies of alleles, genotypes and haplotypes between the cases and controls. There was also no enrichment of potential pathogenic variants of the three genes in leprosy patients. Our results suggested that genetic variants of the MAVS, MITA and MFN2 genes might not affect the susceptibility to leprosy. (C) 2016 Elsevier B.V. All rights reserved.
机译：麻风病是一种由麻风分枝杆菌（M. leprae）引起的慢性感染性疾病，它具有严重的基因组衰退和对宿主代谢的依赖性。越来越多的证据表明线粒体的新陈代谢和先天免疫具有至关重要的作用。我们假设线粒体相关的抗微生物/抗病毒免疫基因MAVS（线粒体抗病毒信号蛋白），MITA（IRF3激活介体）和MFN2（丝裂霉素2）会给麻风病带来风险。在这项研究中，我们进行了一项病例对照研究，以分析527名麻风病患者和583名健康个体的MAVS，MITA和MFN2基因的11个标签和/或非同义SNP，并直接对80例麻风病患者的3个基因进行了测序来自中国西南云南的家族史。根据病例与对照之间的等位基因频率，基因型和单倍型，我们发现这些SNP与麻风病（包括其亚型）之间没有关联。在麻风病人中，这三个基因的潜在致病变异也没有丰富。我们的结果表明，MAVS，MITA和MFN2基因的遗传变异可能不会影响麻风病的易感性。 （C）2016 Elsevier B.V.保留所有权利。

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