title: Allelic variation in BTNL2 and susceptibility to tuberculosis in a South African population.
abstract: Tuberculosis and sarcoidosis show phenotypic features of granulomatous disease. The bacterium Mycobacterium tuberculosis can induce the expression of the sarcoidosis susceptibility gene BTNL2 in monocyte-derived macrophages. BTNL2 was therefore investigated as a candidate gene for tuberculosis in a case-control association study in the South African Coloured population. We sequenced the coding regions of BTNL2 to detect known and novel polymorphisms and genotyped 18 SNPs in 432 pulmonary tuberculosis cases and 482 controls. We did not find a significant association between the truncating rs2076530 SNP, previously associated with sarcoidosis, and tuberculosis. No association was found between any of the other SNPs studied and disease and none of the estimated haplotypes showed any association with TB. Comparative analyses with the South African data from this study and published data on German and American populations revealed that, for a segment of BTNL2, the admixed, but not stratified, South African population resembles the African-Americans more than white populations.
authors.affiliation: Molecular Biology and Human Genetics, MRC Centre for Molecular and Cellular Biology and the DST/NRF Centre of Excellence for Biomedical TB Research, Faculty of Health Sciences, P.O. Box 19063, Stellenbosch University, Tygerberg 7505, South Africa.
authors.forename: Marlo
authors.initials: M
authors.lastname: Möller
authors.forename: Ruta
authors.initials: R
authors.lastname: Kwiatkowski
authors.forename: Almut
authors.initials: A
authors.lastname: Nebel
authors.forename: Paul D
authors.initials: PD
authors.lastname: van Helden
authors.forename: Eileen G
authors.initials: EG
authors.lastname: Hoal
authors.forename: Stefan
authors.initials: S
authors.lastname: Schreiber
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D000071797:Butyrophilins; D016022:Case-Control Studies; D005260:Female; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D008875:Middle Aged; D009169:Mycobacterium tuberculosis / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D012507:Sarcoidosis / Q000235:genetics; D013019:South Africa; D014376:Tuberculosis / Q000208:ethnology / Q000235:genetics*
chemical_list: C408263:BTNL2 protein, human; D000071797:Butyrophilins; D008562:Membrane Glycoproteins