CD40L association with protection from severe malaria

Sabeti, P, Usen, S, Farhadian, S, Jallow, M, Doherty, T, Newport, M, Pinder, M, Ward, R and Kwiatkowski, D (2002) CD40L association with protection from severe malaria. Genes and Immunity, 3 (5). pp. 286-91. ISSN 1466-4879

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CD40 ligand (CD40L), a glycoprotein involved in B cell proliferation, antigen presenting cell activation, and Ig class switching, is important in the immune response to infection. Rare coding mutations in CD40L can lead to life-threatening immunodeficiency but the potential for common variants to alter disease susceptibility remains to be explored. To identify polymorphisms in CD40L, we sequenced 2.3 kb of the 5' flanking region and the first exon of the gene in DNA samples from 36 Gambian females and one chimpanzee. Diversity was lower than the average reported for other areas of the X chromosome, and only two polymorphisms were identified. The polymorphisms were genotyped in DNA samples from 957 Gambian individuals, cases and controls from a study of severe malaria. A significant reduction in risk for severe malaria (OR = 0.52, P = 0.002) was associated with males hemizygous for the CD40L-726C. Analysis by transmission disequilibrium test of 371 cases, for whom DNA from both parents was also available, confirmed the result was not due to stratification (P = 0.04). A similar but non-significant trend was found in females. This preliminary association of a common variant in CD40L with a malaria resistance phenotype encourages further genetic characterization of the role of CD40L in infectious disease.

Item Type: Article
Schools and Departments: Brighton and Sussex Medical School > Primary Care and Public Health
Brighton and Sussex Medical School > Global Health and Infection
Subjects: R Medicine > RC Internal medicine > RC0251 Constitutional diseases (General)
Depositing User: pam Thompson
Date Deposited: 08 May 2014 14:52
Last Modified: 21 Sep 2017 13:38
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