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Title: | A genome wide association study of pulmonary tuberculosis susceptibility in Indonesians | Authors: | Png, E Alisjahbana, B Sahiratmadja, E Marzuki, S Nelwan, R Balabanova, Y Nikolayevskyy, V Drobniewski, F Nejentsev, S Adnan, I van de Vosse, E Hibberd, M.L van Crevel, R Ottenhoff, T.H.M Seielstad, M |
Keywords: | CCL17 protein DYNLRB2 protein EBF1 protein HAUS6 protein Jagged1 PENK protein protein TMEFF2 protein TXNDC4 protein unclassified drug adolescent adult aged article Asian controlled study female genetic association genotype human immunity Indonesia lung tuberculosis major clinical study male signal transduction single nucleotide polymorphism cohort analysis genetic predisposition genetics human genome lung tuberculosis methodology middle aged phenotype single nucleotide polymorphism Adolescent Adult Aged Aged, 80 and over Cohort Studies Female Genetic Predisposition to Disease Genome, Human Genome-Wide Association Study Genotype Humans Indonesia Male Middle Aged Phenotype Polymorphism, Single Nucleotide Tuberculosis, Pulmonary Young Adult |
Issue Date: | 2012 | Citation: | Png, E, Alisjahbana, B, Sahiratmadja, E, Marzuki, S, Nelwan, R, Balabanova, Y, Nikolayevskyy, V, Drobniewski, F, Nejentsev, S, Adnan, I, van de Vosse, E, Hibberd, M.L, van Crevel, R, Ottenhoff, T.H.M, Seielstad, M (2012). A genome wide association study of pulmonary tuberculosis susceptibility in Indonesians. BMC Medical Genetics 13 : 5. ScholarBank@NUS Repository. https://doi.org/10.1186/1471-2350-13-5 | Rights: | Attribution 4.0 International | Abstract: | Background: There is reason to expect strong genetic influences on the risk of developing active pulmonary tuberculosis (TB) among latently infected individuals. Many of the genome wide linkage and association studies (GWAS) to date have been conducted on African populations. In order to identify additional targets in genetically dissimilar populations, and to enhance our understanding of this disease, we performed a multi-stage GWAS in a Southeast Asian cohort from Indonesia.Methods: In stage 1, we used the Affymetrix 100 K SNP GeneChip marker set to genotype 259 Indonesian samples. After quality control filtering, 108 cases and 115 controls were analyzed for association of 95,207 SNPs. In stage 2, we attempted validation of 2,453 SNPs with promising associations from the first stage, in 1,189 individuals from the same Indonesian cohort, and finally in stage 3 we selected 251 SNPs from this stage to test TB association in an independent Caucasian cohort (n = 3,760) from Russia.Results: Our study suggests evidence of association (P = 0.0004-0.0067) for 8 independent loci (nominal significance P < 0.05), which are located within or near the following genes involved in immune signaling: JAG1, DYNLRB2, EBF1, TMEFF2, CCL17, HAUS6, PENK and TXNDC4.Conclusions: Mechanisms of immune defense suggested by some of the identified genes exhibit biological plausibility and may suggest novel pathways involved in the host containment of infection with TB. © 2012 Png et al; licensee BioMed Central Ltd. | Source Title: | BMC Medical Genetics | URI: | https://scholarbank.nus.edu.sg/handle/10635/181614 | ISSN: | 14712350 | DOI: | 10.1186/1471-2350-13-5 | Rights: | Attribution 4.0 International |
Appears in Collections: | Elements Staff Publications |
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