Pulmonary Mycobacterium avium complex infection:: association with NRAMP1 polymorphisms
Pulmonary Mycobacterium avium complex infection:: association with NRAMP1 polymorphisms
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DOI：
10.1183/09031936.00042506
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发表时间：
2007-07-01
影响因子：
24.3
通讯作者：
Keicho, N.
中科院分区：
文献类型：
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作者：
Tanaka, G.;Shojima, J.;Keicho, N.
为探讨非免疫功能低下的鸟分枝杆菌复合体（MAC）肺部感染的危险因素，分析了111例MAC肺部感染患者的流行病学资料和MAC疾病候选基因的变异。应用PCR方法对人天然耐药相关巨噬细胞蛋白1（NRAMP）1基因5 '（GT）n、469+14 G/C、D543 N和3'非翻译区（3 'TGTG）插入/缺失4个多态性位点进行基因分型。维生素D受体基因的Fok I和Taq I多态性以及甘露糖结合凝集素基因的-221 X/Y和密码子54 A/B多态性也进行了评估。患者发病时的居住地分布均匀，无论是滨水区还是城市供水系统。与NRAMP 1基因D543 N和TGTG插入/缺失多态性的主要等位基因的纯合子相比，MAC病例中含有次要等位基因的杂合子较少。这种遗传效应在无合并症的患者中更为显著，但在合并症患者中则不显著。其他基因多态性与MAC感染无相关性，提示人天然耐药相关巨噬细胞蛋白1基因可能与鸟分枝杆菌复合体肺部感染易感性有关。
The present study aimed to elucidate risk factors for nonimmunocompromised pulmonary Mycobacterium avium complex (MAC) infection.Epidemiological data and variations of candidate genes for mycobacterial diseases were analysed in 111 patients with pulmonary MAC infection. Four polymorphisms of the human natural resistance-associated macrophage protein (NRAMP)1 gene, the 5'(GT)n, 469+14 G/C, D543N and the 3'untranslated region (3'TGTG) insertion/deletion, were genotyped using PCR-based methods. Fok I and Taq I polymorphisms of the vitamin D receptor gene and -221 X/Y and codon 54 A/B polymorphisms of the mannose binding lectin gene were also evaluated.Females were more susceptible to MAC infection mainly affecting the right middle lobe or lingular segment of the lung. Patients' residence at the onset of the disease was distributed evenly irrespective of a waterfront or city water supply system. As compared with homozygotes for major alleles of the D543N and TGTG insertion/deletion polymorphism of the NRAMP1 gene, heterozygotes containing minor alleles were less often observed in MAC cases than in controls. This genetic effect was more significant in patients without comorbidity but not in patients with comorbidity. Other polymorphisms did not show any association with the MAC infection.The human natural resistance-associated macrophage protein 1 gene might be involved in susceptibility to pulmonary Mycobacterium avium complex infection.