Bellamy R, Ruwende C, Corrah T, McAdam K P, Whittle H C, Hill A V
Wellcome Trust Centre for Human Genetics, Oxford University, United Kingdom.
N Engl J Med. 1998 Mar 5;338(10):640-4. doi: 10.1056/NEJM199803053381002.
Genetic factors may affect the susceptibility to tuberculosis, but no specific genes governing susceptibility have been identified. In mice, natural resistance to infection with some mycobacteria is influenced by the gene for natural-resistance-associated macrophage protein 1 (Nramp1), but the role of the human homologue of this gene, NRAMP1, in tuberculosis is unknown. We typed polymorphisms in NRAMP1 in a case-control study of tuberculosis in the Gambia, West Africa.
Sequence-specific oligonucleotide hybridization and microsatellite analysis were used to type NRAMP1 polymorphisms in 410 adults (mean age, 34.7 years) with smear-positive pulmonary tuberculosis and 417 ethnically matched, healthy controls. Patients with human immunodeficiency virus infection were excluded.
Four NRAMP1 polymorphisms were each significantly associated with tuberculosis. Subjects who were heterozygous for two NRAMP1 polymorphisms in intron 4 and the 3' untranslated region of the gene were particularly overrepresented among those with tuberculosis, as compared with those with the most common NRAMP1 genotype (odds ratio, 4.07; 95 percent confidence interval, 1.86 to 9.12; chi-square= 14.58; P<0.001).
Genetic variation in NRAMP1 affects susceptibility to tuberculosis in West Africans.
遗传因素可能影响对结核病的易感性,但尚未确定控制易感性的具体基因。在小鼠中,对某些分枝杆菌感染的天然抵抗力受天然抵抗力相关巨噬细胞蛋白1(Nramp1)基因的影响,但该基因的人类同源物NRAMP1在结核病中的作用尚不清楚。我们在西非冈比亚的一项结核病病例对照研究中对NRAMP1的多态性进行了分型。
采用序列特异性寡核苷酸杂交和微卫星分析对410名涂片阳性肺结核成年患者(平均年龄34.7岁)和417名种族匹配的健康对照者的NRAMP1多态性进行分型。排除人类免疫缺陷病毒感染患者。
4种NRAMP1多态性均与结核病显著相关。与最常见的NRAMP1基因型相比,在基因内含子4和3'非翻译区有两种NRAMP1多态性的杂合子受试者在结核病患者中尤其多见(优势比,4.07;95%可信区间,1.86至9.12;卡方 = 14.58;P<0.001)。
NRAMP1的基因变异影响西非人群对结核病的易感性。