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Genome-wide scan for visceral leishmaniasis susceptibility genes in Brazil
Journal article   Peer reviewed

Genome-wide scan for visceral leishmaniasis susceptibility genes in Brazil

S E Jamieson, E N Miller, C S Peacock, M Fakiola, M E Wilson, A Bales-Holst, M-A Shaw, F Silveira, J J Shaw, S M Jeronimo, …
Genes and immunity, Vol.8(1), pp.84-90
11/23/2006
DOI: 10.1038/sj.gene.6364357
PMCID: PMC2495017
PMID: 17122780
url
https://www.ncbi.nlm.nih.gov/pmc/articles/2495017View
Open Access

Abstract

A genome-wide scan was conducted for visceral leishmaniasis in Brazil. Initially, 405 markers were typed in 22 multicase pedigrees (28 nuclear families; 174 individuals; 66 affected. Nonparametric multipoint analysis detected 9 chromosomal regions with provisional evidence (LOD scores 0.95 to 1.66; 0.003​<​P​<​0.018) for linkage. To confirm linkage 132 individuals (43 affected) from 19 independently ascertained families were genotyped across these regions. Three regions (6q27, 7q11.22, and 17q11.2-q21.3) retained evidence (LOD scores 1.08, 1.34, 1.14; P=0.013, 0.007, 0.011) for linkage. To determine which genes contribute to linkage at 17q11.2-q21.3, 80 single nucleotide polymorphisms were genotyped in 98 nuclear families with 183 affected individuals. FBAT analysis indicated associations at two chemokine genes, CCL1 and CCL16, that lie 1.6 Mb apart, show some extended linkage disequilibrium with each other, but each lie within different clusters of candidate CCL genes. Multiple genes may therefore contribute to the linkage peak for visceral leishmaniasis at 17q12.
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