title: Host susceptibility to tuberculosis: CARD15 polymorphisms in a South African population.
abstract: Tuberculosis (TB) is one of the leading causes of death worldwide. The nucleotide-binding oligomerisation domain 2 protein (NOD2) has recently been recognised as a non-redundant recognition mechanism of Mycobacterium tuberculosis. The caspase recruitment domain-containing protein 15 gene (CARD15), which encodes the NOD2 protein, is a susceptibility gene for Crohn's disease (CD), a granulomatous, chronic inflammatory disorder. CARD15 was therefore investigated as a candidate gene in TB. We genotyped the R702W, G908R and 1007fs variants, previously associated with CD, in TB cases and controls from the admixed South African Coloured population. No statistically significant differences between cases and controls were observed for these variants. We determined that the CD-associated mutations occur at very low frequencies in this population. Our results indicate that CARD15 is not a major susceptibility gene for TB in the South African Coloureds.
authors.affiliation: Molecular Biology and Human Genetics, MRC Centre for Molecular and Cellular Biology and DST/NRF Centre of Excellence for Biomedical TB Research, Faculty of Health Sciences, PO Box 19063, Stellenbosch University, Tygerberg 7505, South Africa.
authors.forename: Marlo
authors.initials: M
authors.lastname: Möller
authors.forename: Almut
authors.initials: A
authors.lastname: Nebel
authors.forename: Ruta
authors.initials: R
authors.lastname: Kwiatkowski
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: D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D009169:Mycobacterium tuberculosis / Q000502:physiology; D053473:Nod2 Signaling Adaptor Protein / Q000235:genetics*; D011110:Polymorphism, Genetic; D013019:South Africa / Q000453:epidemiology; D014376:Tuberculosis / Q000453:epidemiology / Q000235:genetics*
chemical_list: D053473:Nod2 Signaling Adaptor Protein