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


Cervino, ACL; Lakiss, S; Sow, O; Bellamy, R; Beyers, N; Hoal-van Helden, E; van Helden, P; McAdam, KPWJ; Hill, AVS; (2002) Fine mapping of a putative tuberculosis susceptibility locus on chromosome 15q11-13 in African families. Human molecular genetics, 11 (14). pp. 1599-603. ISSN 0964-6906 DOI: https://doi.org/10.1093/hmg/11.14.1599

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Abstract

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.

Item Type: Article
Faculty and Department: Faculty of Infectious and Tropical Diseases > Dept of Clinical Research
Faculty of Epidemiology and Population Health > Dept of Population Health (2012- ) > Dept of Nutrition and Public Health Interventions Research (2003-2012)
Faculty of Epidemiology and Population Health > Dept of Population Health (2012- )
PubMed ID: 12075004
Web of Science ID: 176606300002
URI: http://researchonline.lshtm.ac.uk/id/eprint/15665

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