Predominance of one T-cell antigen receptor BV haplotype in African populations

• Published in: Immunogenetics (New York) Vol. 51; no. 3; pp. 231 - 237
• Main Authors: Craddock, T P, Zumla, A M, Ollier, W E, Chintu, C Z, Muyinda, G P, Lancaster, F C, Boylston, A W
• Format: Journal Article
• Language: English
• Published: United States 01.03.2000
• Subjects: Africa; African Continental Ancestry Group - genetics; Alleles; Cameroon; European Continental Ancestry Group - genetics; Gene Frequency; Genetic Variation; Haplotypes; histocompatibility antigen HLA; Humans; Linkage Disequilibrium; Nigeria; Phenotype; Receptors, Antigen, T-Cell, alpha-beta - classification; Receptors, Antigen, T-Cell, alpha-beta - genetics; TCRBV gene; Zambia; Nigeria; Cameroon; Zambia
• ISSN: 0093-7711; 1432-1211
• DOI: 10.1007/s002510050036

The human T-cell antigen receptor (TCR) is the counter-receptor for the HLA/peptide complex displayed on the surface of antigen-presenting cells. It confers antigen specificity on T lymphocytes and therefore plays a central role in pathogen recognition and host response. The most frequently used form of the TCR is a heterodimer composed of variable alpha and beta chains. We investigated allele frequencies for four variable-region gene segments of the beta chain (2S1, 3S1, 8S3, and 15S1) in 146 Caucasians and 165 Africans. The results reveal significant unexpected differences between the two populations for allele frequencies, phenotypes, genotypes, and haplotypes. Among Caucasians, there are 43 phenotypes, whereas there are 31 among the Africans studied. There are 17 haplotypes in the Caucasian sample but only 10 in Africans. This loss of diversity is largely due to the high frequency of one haplotype in the African sample which represents 65% of the informative chromosomes. At least one copy of this haplotype is present in 90% of informative individuals. As a result, 29% of Africans are homozygous for the common haplotype. Less genetic diversity at TCRBV is unexpected, since Africans usually show greater genetic diversity than other ethnic groups. For example, there are approximately twice as many HLA haplotypes in Africans compared to Caucasians. Homozygosity is also unexpected because it reduces the number of TCR variants available to recognize HLA pathogen-derived peptide complexes.