Genetic control of visceral leishmaniasis in a Sudanese population: candidate gene testing indicates a linkage to the NRAMP1 region

被引：66

作者：

Bucheton, B

Abel, L

Kheir, MM

Mirgani, A

El-Safi, SH

Chevillard, C

Dessein, A

机构：

[1] Fac Med La Timone, INSERM, U399, Lab Parasitol & Mycol, F-13385 Marseille 5, France

[2] Fac Med Necker Enfants Malad, INSERM, U550, Paris, France

[3] Univ Khartoum, Fac Med, Dept Microbiol & Parasitol, Khartoum, Sudan

[4] Univ Gezira, Wad Madani, Sudan

来源：

GENES AND IMMUNITY | 2003年 / 4卷 / 02期

关键词：

human genetics; visceral leishmaniasis; NRAMP1;

D O I：

10.1038/sj.gene.6363927

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

There is some evidence showing that genetic factors are involved in human susceptibility to parasitic diseases such as schistosomiasis and malaria. Studies have shown that the Nramp 1 and H-2 genes are implicated in the control of Leishmania donovani infection in mice. We sought genetic loci involved in the control of susceptibility to visceral disease caused by L. donovani in humans. We studied 37 families with at least two affected sibs living in a village in eastern Sudan, where an outbreak of visceral leishmaniasis occurred between 1995 and 2000. The genetic markers located in five chromosomal regions containing candidate genes were typed: 2q35 (NRAMP 1), 5q31-q33 (Th2 cytokine cluster), 6p21 (HLA/TNF-alpha), 6q23 (INFGRI) and 12q15 (INF-gamma). Linkage (multipoint lod-score = 1.08, P = 0.01) was observed for the 5' (CA) repeat polymorphism in the NRAMP1 promoter. This suggests that genetic variations of this gene affect susceptibility to visceral leishmaniasis in this population.

引用

页码：104 / 109

页数：6

共 49 条

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