Blackwell JM

Cordell HJ

Elhassan A

Elzein A

Fadl M

Fakiola M

Ibrahim ME

Jamieson SE

Khalil EA

Miller EN

Mohamed HS

Musa AM

Peacock CS

Raju M

Familial clustering and ethnic differences suggest that visceral leishmaniasis caused by Leishmania donovani is under genetic control. A recent genome scan provided evidence for a major susceptibility gene on Chromosome 22q12 in the Aringa ethnic group in Sudan. We now report a genome-wide scan using 69 families with 173 affected relatives from two villages occupied by the related Masalit ethnic group. A primary ten-centimorgan scan followed by refined mapping provided evidence for major loci at 1p22 (LOD score 5.65; nominal p=1.72
710-7; empirical p &lt; 1
710-5; λS= 5.1) and 6q27 (LOD score 3.74; nominal p = 1.68 
7 10-5; empirical p &lt; 1 
7 10-4; λS = 2.3) that were Y chromosome-lineage and village-specific. Neither village supported a visceral leishmaniasis susceptibility gene on 22q12. The results suggest strong lineage-specific genes due to founder effect and consanguinity in these recently immigrant populations. These chance events in ethnically uniform African populations provide a powerful resource in the search for genes and mechanisms that regulate this complex disease. \ua9 2007 Miller et al

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Y chromosome lineage- and village-specific genes on chromosomes 1p22 and 6q27 control visceral leishmaniasis in Sudan

Y chromosome lineage- and village-specific genes on chromosomes 1p22 and 6q27 control visceral leishmaniasis in Sudan

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