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Human Molecular Genetics, 2002, Vol. 11, No. 14 1599-1603
© 2002 Oxford University Press

Fine mapping of a putative tuberculosis-susceptibility locus on chromosome 15q11–13 in African families

Alessandra C. L. Cervino1, Said Lakiss2, Oumou Sow2, Richard Bellamy1, Nulda Beyers3, Eileen Hoal-van Helden4, Paul van Helden4, Keith P. W. J. McAdam5 and Adrian V. S. Hill1,*

1Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK, 2Hôpital Ignace Deen, Conakry, Guinea, 3Department of Paediatrics and Child Health, 4MRC Centre for Molecular and Cellular Biology and Department of Medical Biochemistry, University of Stellenbosch, South Africa and 5Medical Research Council Laboratories, Banjul, The Gambia

Received January 9, 2002; Accepted May 13, 2002

Host genetics plays an important role in individual susceptibility and resistance to infectious diseases, but no genes have yet been identified using genome-wide screens. Twin studies have indicated that tuberculosis susceptibility has a significant host genetic component, and several genes appear to be involved. Recently, a genome-wide linkage analysis of 136 African families identified chromosome 15q11–13 as a region with suggestive evidence of linkage, with a LOD score of 2.0. We tested 10 microsatellite markers and 5 positional candidate genes in this chromosomal region for deviation from random transmission from parents to affected offspring. The polymorphisms, lying in a region of 14 cM, were initially typed in the same 79 Gambian families used in the genome screen. A borderline significant association with a 7 bp deletion in UBE3A (P=0.01) was found. This polymorphism was then evaluated further in a larger series of families with tuberculosis, including 44 Guinean families and 57 families from South Africa. Testing for association between the deletion and tuberculosis across all the families using the exact symmetry test further supported the association (overall P=0.002). These fine-mapping data suggest that UBE3A or a closely flanking gene may be a tuberculosis-susceptibility locus.

* To whom correspondence should be addressed at: Room 7501, Level 7 John Radcliffe Hospital, Oxford OX3 9DU, UK. Email: adrian.hill{at}imm.ox.ac.uk


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