Please use this identifier to cite or link to this item: https://doi.org/10.1186/1471-2350-13-5
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
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