title: Polymorphisms in SP110 are not associated with pulmonary tuberculosis in Indonesians.
abstract: Despite being high transmissible, Mycobacterium tuberculosis (M. tuberculosis) infection causes active disease in only 5-10% of disease-susceptible individuals. This has instigated interest in studying potentially underlying genetic host factors and mechanisms in tuberculosis (TB). The recent identification of the Intracellular pathogen resistance 1 (Ipr1) gene, which plays a major role in controlling M. tuberculosis susceptibility and infection severity in mice (Pan et al., 2005), has prompted studies on its human homolog; SP110 in humans. Association of SP110 SNPs with pulmonary TB were first reported in a study on West African families (Tosh et al., 2006). Subsequent attempts to replicate these findings in other populations, including another West African (Ghanaian) cohort (Thye et al., 2006), however, were unsuccessful. Here we have genotyped 20 SNPs located in the SP110 gene, including the previously TB associated variants; rs2114592 and rs3948464, for the first time in a South East Asian cohort from Indonesia. Our study did not reveal any statistically significant associations between SP110 SNPs and pulmonary TB. In addition, a meta-analysis of the two previously TB associated SNPs revealed that these are not associated with TB, further confirming the lack of convincing evidence for SP110 to be implicated in TB susceptibility, as yet in humans.
authors.affiliation: Human Genetics, Genome Institute of Singapore, 60 Biopolis Street, Singapore 138672, Singapore. pnge@gis.a-star.edu.sg
authors.forename: Eileen
authors.initials: E
authors.lastname: Png
authors.forename: Bachti
authors.initials: B
authors.lastname: Alisjahbana
authors.forename: Edhyana
authors.initials: E
authors.lastname: Sahiratmadja
authors.forename: Sangkot
authors.initials: S
authors.lastname: Marzuki
authors.forename: Ron
authors.initials: R
authors.lastname: Nelwan
authors.forename: Iskandar
authors.initials: I
authors.lastname: Adnan
authors.forename: Esther
authors.initials: E
authors.lastname: van de Vosse
authors.forename: Martin
authors.initials: M
authors.lastname: Hibberd
authors.forename: Reinout
authors.initials: R
authors.lastname: van Crevel
authors.forename: Tom H M
authors.initials: TH
authors.lastname: Ottenhoff
authors.forename: Mark
authors.initials: M
authors.lastname: Seielstad
mesh_terms: D016022:Case-Control Studies; D016009:Chi-Square Distribution; D015331:Cohort Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007214:Indonesia / Q000453:epidemiology; D015778:Minor Histocompatibility Antigens; D009687:Nuclear Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D014397:Tuberculosis, Pulmonary / Q000453:epidemiology / Q000235:genetics*
chemical_list: D015778:Minor Histocompatibility Antigens; D009687:Nuclear Proteins; C412425:Sp110 protein, human