Polymorphisms in SP110 are not associated with pulmonary tuberculosis in Indonesians

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• 作者：Eileen Png^a ; ^b ; ² ; ^{pnge@gis.a-star.edu.sg} ; Bachti Alisjahbana^c ; ^d ; ² ; ^{bachti@melsa.net.id} ; Edhyana Sahiratmadja^d ; ^e ; ² ; ^{edhyanas@yahoo.com} ; Sangkot Marzuki^f ; ^{smarzuki@eijkman.go.id} ; Ron Nelwan^g ; ^{jade_update@yahoo.com} ; Iskandar Adnan^f ; ^{kandar@eijkman.go.id} ; Esther van de Vosse^h ; ^{E.van_de_Vosse@lumc.nl} ; Martin Hibberd^b ; ^{hibberdml@gis.a-star.edu.sg} ; Reinout van Crevelⁱ ; ² ; ^{R.vanCrevel@AIG.umcn.nl} ; Tom H.M. Ottenhoff^h ; ² ; ^{T.H.M.Ottenhoff@lumc.nl} ; Mark Seielstad^a ; ¹ ; ² ; ^{mark.seielstad@ucsf.edu}
• 关键词：TB ; tuberculosis ; SNP ; single nucleotide polymorphism ; HIV ; Human immunodeficiency virus ; Ct ; cycle threshold ; d.f. ; degree freedom ; MAF ; minor allele frequency ; HWE ; Hardy Weinberg equilibrium ; QC ; quality control ; WHO ; World Health Organization ; OPA ; ol
• 刊名：Infection ; Genetics and Evolution
• 出版年：2012
• 期刊代码：119_15671348
• 类别：med
• 出版时间：August, 2012
• 卷：12
• 期：6
• 页码：1319-1323
• 文件大小：361 K

摘要

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 (), 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 (). Subsequent attempts to replicate these findings in other populations, including another West African (Ghanaian) cohort (), 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.