Biomaterial Database

TAP1 and TAP2 polymorphism in Spanish patients with ankylosing spondylitis. 2000

A Fraile, and M D Collado, and L Matarán, and J Martín, and A Nieto

Instituto de Parasitología y Biomedicina 'López Neyra', C.S.I.C., Granada, Spain.

OBJECTIVE HLA-B27 is strongly associated with ankylosing spondylitis (AS); however, the association is not absolute and additional susceptibility factors in the MHC region could play a role. We studied the influence of polymorphism in the transporter associated with antigen processing (TAP) genes, including point mutations not previously analyzed. METHODS HLA-B*27 typing and subtyping as well as TAP1 and TAP2 typing were performed by PCR-RFLP. Forty-four AS individuals were compared to 61 ethnically matched random individuals and 35 B*27-positive healthy unrelated individuals as controls. RESULTS The frequency of the TAP1B allele was significantly greater in the patient group compared with the random controls (corrected p value (p(c)) = 0.035; odds ratio = 15.8, p = 0.01). A greater frequency was also evident when B*27-positive patients and B*27- positive healthy controls were compared, although it did not reach statistical significance. No differences were observed in TAP2 alleles between the groups studied. CONCLUSIONS We did not find a primary association between TAP2 polymorphism and AS susceptibility. Formal confirmation of a linkage between the TAP and HLA-B loci would probably require family studies.

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
D011110	Polymorphism, Genetic	The regular and simultaneous occurrence in a single interbreeding population of two or more discontinuous genotypes. The concept includes differences in genotypes ranging in size from a single nucleotide site (POLYMORPHISM, SINGLE NUCLEOTIDE) to large nucleotide sequences visible at a chromosomal level.	Gene Polymorphism,Genetic Polymorphism,Polymorphism (Genetics),Genetic Polymorphisms,Gene Polymorphisms,Polymorphism, Gene,Polymorphisms (Genetics),Polymorphisms, Gene,Polymorphisms, Genetic
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
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
D000483	Alleles	Variant forms of the same gene, occupying the same locus on homologous CHROMOSOMES, and governing the variants in production of the same gene product.	Allelomorphs,Allele,Allelomorph
D013030	Spain	Country located between France on the northeast and Portugal on the west and bordered by the Atlantic Ocean and the Mediterranean Sea. The capital is Madrid.	Balearic Islands,Canary Islands
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
D016017	Odds Ratio	The ratio of two odds. The exposure-odds ratio for case control data is the ratio of the odds in favor of exposure among cases to the odds in favor of exposure among noncases. The disease-odds ratio for a cohort or cross section is the ratio of the odds in favor of disease among the exposed to the odds in favor of disease among the unexposed. The prevalence-odds ratio refers to an odds ratio derived cross-sectionally from studies of prevalent cases.	Cross-Product Ratio,Risk Ratio,Relative Odds,Cross Product Ratio,Cross-Product Ratios,Odds Ratios,Odds, Relative,Ratio, Cross-Product,Ratio, Risk,Ratios, Cross-Product,Ratios, Risk,Risk Ratios