title: Susceptibility to leprosy is linked to the human NRAMP1 gene.
abstract: Leprosy is a debilitating infectious disease of human skin and nerves. Genetic factors of the host play an important role in the manifestation of disease susceptibility. The human NRAMP1 gene is a leprosy susceptibility candidate locus since its murine homologue Nramp1 (formerly Lsh/Ity/Bcg) controls innate resistance to Mycobacterium lepraemurium. In this study, 168 members of 20 multiplex leprosy families were genotyped for NRAMP1 alleles and 4 closely linked polymorphic markers. Highly informative haplotypes overlapping the NRAMP1 gene were constructed, and the haplotype segregation into leprosy-affected offspring was analyzed. It was observed that the segregation of NRAMP1 haplotypes into affected siblings was significantly nonrandom. This finding is consistent with the hypothesis that NRAMP1 itself is a leprosy susceptibility locus.
authors.affiliation: INSERM Unité 436, Hôpital-Pitié Salpêtrière, Paris, France.
authors.forename: L
authors.initials: L
authors.lastname: Abel
authors.forename: F O
authors.initials: FO
authors.lastname: Sánchez
authors.forename: J
authors.initials: J
authors.lastname: Oberti
authors.forename: N V
authors.initials: NV
authors.lastname: Thuc
authors.forename: L V
authors.initials: LV
authors.lastname: Hoa
authors.forename: V D
authors.initials: VD
authors.lastname: Lap
authors.forename: E
authors.initials: E
authors.lastname: Skamene
authors.forename: P H
authors.initials: PH
authors.lastname: Lagrange
authors.forename: E
authors.initials: E
authors.lastname: Schurr
mesh_terms: D000483:Alleles; D002352:Carrier Proteins / Q000235:genetics*; D027682:Cation Transport Proteins; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D006239:Haplotypes / Q000235:genetics; D006790:Host-Parasite Interactions / Q000235:genetics; D006801:Humans; D007918:Leprosy / Q000235:genetics*; D008565:Membrane Proteins / Q000235:genetics*; D010375:Pedigree; D011110:Polymorphism, Genetic; D000099173:Natural Resistance-associated Macrophage Protein 1
chemical_list: D002352:Carrier Proteins; D027682:Cation Transport Proteins; D005819:Genetic Markers; D008565:Membrane Proteins; D000099173:Natural Resistance-associated Macrophage Protein 1