Hsu Yung-Hsiang, Chen Chaio-Wei, Sun H Sunny, Jou Ruwen, Lee Jen-Jyh, Su Ih-Jen
Department of Pathology, Tzu-Chi General Hospital, Hualien, Taiwan.
J Formos Med Assoc. 2006 May;105(5):363-9. doi: 10.1016/S0929-6646(09)60131-5.
BACKGROUND/PURPOSE: The human homologue of mice natural-resistance-associated macrophage protein 1 (Nramp 1) gene, NRAMP 1, has been reported to play a role in susceptibility to tuberculosis in humans. The aboriginal population in Taiwan has a five-fold higher prevalence of tuberculosis than people of Han ethnicity. Whether genetic factors such as NRAMP 1 polymorphism play a role in the prevalence of tuberculosis in Taiwanese aboriginals should be clarified.
NRAMP 1 polymorphism was studied using a case-control design of patients with tuberculosis, including subjects of Han (Hans) and aboriginal ethnicity in Hualien, eastern Taiwan. The polymorphisms of NRAMP 1 at loci INT4, D543N, 77-385C/T, 3-UTR (CAAA) deletion and 5-(CA)n microsatellite markers were assessed by polymerase chain reaction on tissue DNA isolated from 105 aborigines and 110 Hans with tuberculosis. Comparable numbers of ethnically-matched controls were studied simultaneously.
Two NRAMP 1 polymorphisms, INT4 and 5-(CA)n, were significantly associated with susceptibility to tuberculosis in aboriginals (p = 0.0070 and p = 0.0031, respectively). However, no association was detected at the five loci of NRAMP 1 polymorphisms among Hans (p > 0.08).
Genetic variation in NRAMP 1 may affect susceptibility to and increase risk for tuberculosis in Taiwanese aboriginals. Although environmental factors play an important role in tuberculosis infection, genetic factors such as NRAMP 1 polymorphism may also contribute to the high prevalence of tuberculosis in Taiwanese aboriginals.
背景/目的：据报道，小鼠天然抗性相关巨噬细胞蛋白1（Nramp 1）基因的人类同源物NRAMP 1在人类结核病易感性中起作用。台湾原住民的结核病患病率比汉族人群高五倍。NRAMP 1多态性等遗传因素是否在台湾原住民结核病患病率中起作用有待明确。
采用病例对照设计，对台湾东部花莲地区包括汉族和原住民的结核病患者进行NRAMP 1多态性研究。通过聚合酶链反应对从105名原住民和110名汉族结核病患者分离的组织DNA评估NRAMP 1基因座INT4、D543N、77 - 385C/T、3'非翻译区（CAAA）缺失和5'（CA）n微卫星标记的多态性。同时对数量相当的种族匹配对照进行研究。
两种NRAMP 1多态性，INT4和5'（CA）n，与原住民结核病易感性显著相关（分别为p = 0.0070和p = 0.0031）。然而，在汉族人群的NRAMP 1多态性五个基因座上未检测到关联（p > 0.08）。
NRAMP 1基因变异可能影响台湾原住民对结核病的易感性并增加患病风险。虽然环境因素在结核病感染中起重要作用，但NRAMP 1多态性等遗传因素也可能导致台湾原住民结核病的高患病率。
