Analysis of IL1B, TAP1, TAP2 and IKBL polymorphisms on susceptibility to tuberculosis. 2006

L M Gomez, and J F Camargo, and J Castiblanco, and E A Ruiz-Narváez, and J Cadena, and J M Anaya
Cellular Biology and Immunogenetics Unit, Corporación para Investigaciones Biológicas, CIB, Medellin, Colombia.

Genetic determinants of human susceptibility to tuberculosis (TB) have not been completely elucidated. Interleukin-1 beta (IL-1beta) and the inhibitor of kB-like (IkBL) are important molecules that participate in the inflammatory response required for the immunological control of a broad spectrum of infectious agents. The transporter associated with antigen processing (TAP) is involved in the antigen processing via major histocompatibility complex class I molecules and in turn might regulate the T-cell response against Mycobacterium tuberculosis. To better characterize the host genetic factors determining the susceptibility to TB, we evaluated the influence of functional polymorphisms in IL1B, TAP and IKBL genes on the risk of developing pulmonary TB in a Northwestern Colombian population, an endemic area of M. tuberculosis infection. A total of 122 TB patients and 166 healthy controls (N = 166) negative for human immunodeficiency virus infection were examined for IL1B-511 and +3,953, TAP1 and TAP2 and IKBL+738 polymorphisms. Univariate analysis disclosed significant differences between patients and controls for IL1B+3,953 polymorphism. After unconditional logistic regression analysis, a strong protection conferred by IL1B+3,953 T-allele-carrying genotypes was observed. A trend between TAP2*0201 allele and disease was observed. Association between IL1B-511, TAP1 or IKBL polymorphisms and TB disease was not found. These results indicate that a functional polymorphism in the IL1B gene influences the susceptibility to TB and suggest a role for IL-1beta in the pathogenesis of mycobacterial infection.

UI MeSH Term Description Entries
D007375 Interleukin-1 A soluble factor produced by MONOCYTES; MACROPHAGES, and other cells which activates T-lymphocytes and potentiates their response to mitogens or antigens. Interleukin-1 is a general term refers to either of the two distinct proteins, INTERLEUKIN-1ALPHA and INTERLEUKIN-1BETA. The biological effects of IL-1 include the ability to replace macrophage requirements for T-cell activation. IL-1,Lymphocyte-Activating Factor,Epidermal Cell Derived Thymocyte-Activating Factor,Interleukin I,Macrophage Cell Factor,T Helper Factor,Epidermal Cell Derived Thymocyte Activating Factor,Interleukin 1,Lymphocyte Activating Factor
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D009169 Mycobacterium tuberculosis A species of gram-positive, aerobic bacteria that produces TUBERCULOSIS in humans, other primates, CATTLE; DOGS; and some other animals which have contact with humans. Growth tends to be in serpentine, cordlike masses in which the bacilli show a parallel orientation. Mycobacterium tuberculosis H37Rv
D004198 Disease Susceptibility A constitution or condition of the body which makes the tissues react in special ways to certain extrinsic stimuli and thus tends to make the individual more than usually susceptible to certain diseases. Diathesis,Susceptibility, Disease,Diatheses,Disease Susceptibilities,Susceptibilities, Disease
D005838 Genotype The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS. Genogroup,Genogroups,Genotypes
D006239 Haplotypes The genetic constitution of individuals with respect to one member of a pair of allelic genes, or sets of genes that are closely linked and tend to be inherited together such as those of the MAJOR HISTOCOMPATIBILITY COMPLEX. Haplotype
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000071181 ATP Binding Cassette Transporter, Subfamily B, Member 2 An ATP-binding cassette, sub-family B protein (ATP BINDING CASSETTE TRANSPORTER, SUBFAMILY B) that functions in the transport of ANTIGENS from the CYTOPLASM to the ENDOPLASMIC RETICULUM for association with HISTOCOMPATIBILITY ANTIGENS CLASS I peptides. It also acts as a molecular scaffold for the final stage of MHC class I PROTEIN FOLDING. ABCB2 Protein,ATP Binding Cassette Transporter, Sub-Family B, Member 2,ATP-Binding Cassette Sub-Family B Member 2,Antigen Peptide Transporter-1,Peptide Transporter PSF1,Peptide Transporter TAP1,RING4 Protein,Really Interesting New Gene 4 Protein,TAP-1 Protein,TAP1 Protein,Transporter 1, ATP-Binding Cassette, Sub-Family B (MDR-TAP),ATP Binding Cassette Sub Family B Member 2,Antigen Peptide Transporter 1,PSF1, Peptide Transporter,TAP 1 Protein,TAP1, Peptide Transporter
D000071450 ATP Binding Cassette Transporter, Subfamily B, Member 3 ATP-binding cassette, subfamily B, protein that functions in the transport of ANTIGENS from the CYTOPLASM to the ENDOPLASMIC RETICULUM for association with HISTOCOMPATIBILITY ANTIGENS CLASS I peptides. It functions as a heterodimer with ATP BINDING CASSETTE TRANSPORTER, SUBFAMILY B, MEMBER 2. ABCB3 Protein,ATP Binding Cassette Transporter, Sub-Family B, Member 3,ATP-Binding Cassette, Sub-Family B, Member 3,Antigen Peptide Transporter-2,Peptide Supply Factor 2,Peptide Transporter Tap2,Antigen Peptide Transporter 2,Tap2, Peptide Transporter
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults

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