Associations between IL12B Polymorphisms and Tuberculosis in the Hong Kong Chinese Population

Background. Interleukin (IL)-12 plays a vital role in regulating cell-mediated immunity against tuberculosis (TB). Methods. To test whether IL12B genetic polymorphisms might contribute to human TB susceptibility, we examined the genotype frequencies of 5 IL12B polymorphisms (at promoter, intron 2, i...

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Bibliographic Details
Published in:	The Journal of infectious diseases Vol. 190; no. 5; pp. 913 - 919
Main Authors:	Tso, Hoi W., Lau, Yu Lung, Tam, Cheuk M., Wong, Hing S., Chiang, Alan K. S.
Format:	Journal Article
Language:	English
Published:	Chicago, IL The University of Chicago Press 01-09-2004 University of Chicago Press Oxford University Press
Subjects:	Alleles Asian Continental Ancestry Group Bacteria Bacterial diseases Biological and medical sciences Female Fundamental and applied biological sciences. Psychology Gene Frequency Genetic loci Genetic Predisposition to Disease Genotypes Haplotypes Hong Kong Human bacterial diseases Humans Infectious diseases Interleukin-12 - genetics Interleukin-12 - metabolism Interleukin-12 Subunit p40 Introns Male Medical sciences Microbiology Middle Aged Mycobacterium tuberculosis Operating rooms Polymorphism, Genetic Protein Subunits - metabolism Tuberculosis Tuberculosis and atypical mycobacterial infections Tuberculosis control Tuberculosis, Pulmonary - ethnology Tuberculosis, Pulmonary - genetics Untranslated regions Hong Kong Asia China Hong Kong China Infection Bacteriosis Tuberculosis Mycobacterial infection Microbiology Polymorphism
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Summary:	Background. Interleukin (IL)-12 plays a vital role in regulating cell-mediated immunity against tuberculosis (TB). Methods. To test whether IL12B genetic polymorphisms might contribute to human TB susceptibility, we examined the genotype frequencies of 5 IL12B polymorphisms (at promoter, intron 2, intron 4, exon 5, and 3′ untranslated region [UTR]) in 516 patients with TB and 514 healthy control subjects from the Hong Kong Chinese population. Results. Individuals homozygous for the IL12B intron 2-repeat marker (ATT)8 had a 2.1-fold increased risk of developing TB (P < .001) (odds ratio, 2.14 [95% confidence interval, 1.45–3.19]). Estimation of the frequencies of multiple-locus haplotypes composed of IL12B promoter, intron 2, intron 4, and 3′ UTR alleles revealed potential risk haplotypes (designated “A” and “K”) and protective haplotypes (designated “B”) for TB. Furthermore, combining the genotype data of the 4 informative IL12B loci revealed a strong association between a specific genotype pattern, termed “diplotype I” (heterozygous A and K haplotypes), and TB. In contrast, diplotype II (homozygous BB haplotypes) appeared protective against TB. Conclusions. These findings support the association between IL12B intron 2 polymorphism and TB and between specific IL12B haplotypes and TB.
Bibliography:	istex:AC69C46A1E243D5F4C05ED330A1EA6C324195A2E ark:/67375/HXZ-8V333MVC-D ObjectType-Article-2 SourceType-Scholarly Journals-1 ObjectType-Feature-1 content type line 23 ObjectType-Article-1 ObjectType-Feature-2
ISSN:	0022-1899 1537-6613
DOI:	10.1086/422693