Biomaterial Database

The contribution of genes outside the major histocompatibility complex to susceptibility to ankylosing spondylitis. 2008

Tamar F Brionez, and John D Reveille

Division of Rheumatology and Clinical Immunogenetics, The University of Texas Health Science Center at Houston, Houston, Texas 77030, USA.

OBJECTIVE Recent data have presented several new nonmajor histocompatibility complex genes in predisposition to ankylosing spondylitis, which will be summarized here. RESULTS A retrospective meta-analysis of three previous whole genome linkage scans confirmed a strong linkage at chromosome 16q and moderate linkage at sites on chromosomes 3, 10, and 19q, and a meta-analysis of studies of the interleukin-1 (IL-1) region genes in ankylosing spondylitis suggested the susceptibility to be conferred by the IL-1A gene. More recently, the use of genotyping chips, derived from the International Hapmap resource, which provides an extensive genomic coverage of large disease cohorts, have made it possible to conduct successful genome-wide association studies. One such study has led to the identification and validation of two new genes, IL23R and ARTS1, in ankylosing spondylitis pathogenesis. CONCLUSIONS A tremendous amount of progress has been made with respect to understanding the genetic basis of ankylosing spondylitis. The recent identification of two new genes, ARTS1 and IL23R, and confirmation of IL-1A association further substantiate that ankylosing spondylitis is determined to a large extent by genes outside the major histocompatibility complex.

UI	MeSH Term	Description	Entries
D008285	Major Histocompatibility Complex	The genetic region which contains the loci of genes which determine the structure of the serologically defined (SD) and lymphocyte-defined (LD) TRANSPLANTATION ANTIGENS, genes which control the structure of the IMMUNE RESPONSE-ASSOCIATED ANTIGENS, HUMAN; the IMMUNE RESPONSE GENES which control the ability of an animal to respond immunologically to antigenic stimuli, and genes which determine the structure and/or level of the first four components of complement.	Histocompatibility Complex,Complex, Histocompatibility,Complex, Major Histocompatibility,Complices, Histocompatibility,Complices, Major Histocompatibility,Histocompatibility Complex, Major,Histocompatibility Complices,Histocompatibility Complices, Major,Major Histocompatibility Complices
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000626	Aminopeptidases	A subclass of EXOPEPTIDASES that act on the free N terminus end of a polypeptide liberating a single amino acid residue. EC 3.4.11.	Aminopeptidase
D012189	Retrospective Studies	Studies used to test etiologic hypotheses in which inferences about an exposure to putative causal factors are derived from data relating to characteristics of persons under study or to events or experiences in their past. The essential feature is that some of the persons under study have the disease or outcome of interest and their characteristics are compared with those of unaffected persons.	Retrospective Study,Studies, Retrospective,Study, Retrospective
D013167	Spondylitis, Ankylosing	A chronic inflammatory condition affecting the axial joints, such as the SACROILIAC JOINT and other intervertebral or costovertebral joints. It occurs predominantly in young males and is characterized by pain and stiffness of joints (ANKYLOSIS) with inflammation at tendon insertions.	Ankylosing Spondylitis,Bechterew Disease,Marie-Struempell Disease,Rheumatoid Spondylitis,Spondylarthritis Ankylopoietica,Ankylosing Spondylarthritis,Ankylosing Spondyloarthritis,Bechterew's Disease,Spondylitis Ankylopoietica,Spondyloarthritis Ankylopoietica,Ankylosing Spondylarthritides,Ankylosing Spondyloarthritides,Bechterews Disease,Marie Struempell Disease,Spondylarthritides, Ankylosing,Spondylarthritis, Ankylosing,Spondylitis, Rheumatoid,Spondyloarthritides, Ankylosing,Spondyloarthritis, Ankylosing
D015778	Minor Histocompatibility Antigens	Allelic alloantigens often responsible for weak graft rejection in cases when (major) histocompatibility has been established by standard tests. In the mouse they are coded by more than 500 genes at up to 30 minor histocompatibility loci. The most well-known minor histocompatibility antigen in mammals is the H-Y antigen.	Histocompatibility Antigens, Minor,Minor Histocompatibility Antigen,Minor Histocompatibility Peptide,Minor Histocompatibility Peptides,Antigen, Minor Histocompatibility,Histocompatibility Antigen, Minor,Histocompatibility Peptide, Minor,Histocompatibility Peptides, Minor,Peptide, Minor Histocompatibility
D015796	HLA-B27 Antigen	A specific HLA-B surface antigen subtype. Members of this subtype contain alpha chains that are encoded by the HLA-B*27 allele family.	HLA Class I Histocompatibility Antigen, B-27 alpha Chain,HLA-B27,Antigen, HLA-B27,HLA B27 Antigen,HLA Class I Histocompatibility Antigen, B 27 alpha Chain
D053582	Interleukin-1alpha	An interleukin-1 subtype that occurs as a membrane-bound pro-protein form that is cleaved by proteases to form a secreted mature form. Unlike INTERLEUKIN-1BETA both membrane-bound and secreted forms of interleukin-1alpha are biologically active.	IL-1 alpha,Hematopoietin-1,Interleukin-1 alpha,Hematopoietin 1,Interleukin 1 alpha,Interleukin 1alpha
D018123	Receptors, Interleukin	Cell surface proteins that bind interleukins and trigger intracellular changes influencing the behavior of cells.	Interleukin Receptors,Interleukin Receptor,Receptors, Interleukins,Interleukins Receptors,Receptor, Interleukin
D020022	Genetic Predisposition to Disease	A latent susceptibility to disease at the genetic level, which may be activated under certain conditions.	Genetic Predisposition,Genetic Susceptibility,Predisposition, Genetic,Susceptibility, Genetic,Genetic Predispositions,Genetic Susceptibilities,Predispositions, Genetic,Susceptibilities, Genetic