Ettinger Nicholas A, Duggal Priya, Braz Regina F S, Nascimento Eliana T, Beaty Terri H, Jeronimo Selma M B, Pearson Richard D, Blackwell Jenefer M, Moreno Lina, Wilson Mary E
Interdisciplinary Graduate Program in Molecular and Cellular Biology, University of Iowa; Iowa City, IA 52242, USA.
Ann Hum Genet. 2009 May;73(Pt 3):304-13. doi: 10.1111/j.1469-1809.2009.00510.x. Epub 2009 Mar 27.
Visceral leishmaniasis (VL) in northeast Brazil is a disease caused by infection with the protozoan Leishmania chagasi. Infection leads to variable clinical outcomes ranging from asymptomatic infection to potentially fatal disease. Prior studies suggest the genetic background of the host contributes to the development of different outcomes after infection, although it is not known if ancestral background itself influences outcomes. VL is endemic in peri-urban areas around the city of Natal in northeast Brazil. The population of northeast Brazil is a mixture of distinct racial and ethnic groups. We hypothesized that some sub-populations may be more susceptible than others to develop different clinical outcomes after L. chagasi infection. Using microsatellite markers, we examined whether admixture of the population as a whole, or markers likely inherited from a distinct ethnic background, differed between individuals with VL, individuals with an asymptomatic infection, or individuals with no infection. There was no apparent significant difference in overall population admixture proportions among the three clinical phenotype groups. However, one marker on Chr. 22 displayed evidence of excess ancestry from putative ancestral populations among different clinical phenotypes, suggesting this region may contain genes determining the course of L. chagasi infection.
巴西东北部的内脏利什曼病(VL)是由原生动物恰加斯利什曼原虫感染引起的疾病。感染会导致从无症状感染到潜在致命疾病等不同的临床结果。先前的研究表明,宿主的遗传背景会影响感染后不同结果的发展,尽管尚不清楚祖先背景本身是否会影响结果。VL在巴西东北部纳塔尔市周边的城市地区流行。巴西东北部的人口是不同种族和民族的混合体。我们假设,一些亚群体可能比其他亚群体在恰加斯利什曼原虫感染后更容易出现不同的临床结果。我们使用微卫星标记,研究了整个群体的混合情况,或者可能从不同种族背景遗传而来的标记,在患VL的个体、无症状感染个体或未感染个体之间是否存在差异。在三种临床表型组中,总体群体混合比例没有明显的显著差异。然而,22号染色体上的一个标记显示,在不同临床表型中,来自假定祖先群体的祖先成分过多,这表明该区域可能包含决定恰加斯利什曼原虫感染进程的基因。