Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UNIPROT:P01889 (ankylosing spondylitis)
 5,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

With the mapping of the human genome having been completed, our ability to investigate and ideally better understand the genetic basis of rheumatic diseases is advancing at a rapid pace. Substantial evidence strongly favors a direct role for HLA-B27 in genetic susceptibility to ankylosing spondylitis and related spondyloarthropathies, although the underlying molecular basis has yet to be identified. HLA-B27 contributes only 16 to 50% of the total genetic risk for the disease, clearly indicating that other genes must be involved. However, no other putative disease genes have yet been absolutely proven. Potential genes include MHC (HLA class II, low molecular weight proteasome [LMP], transporter associated with antigen processing (TAP), tumor necrosis factor [TNF]-alpha, and major histocompatibility complex class I chain-related gene A (MICA), as well as non-MHC genes (IL-1RA, IL-6, IL-10, and CYP2D6). Genome-wide screens have identified other chromosomal areas of interest: 1p, 2q, 6p, 9q, 10q, 16q, and 19q. However, different studies have given conflicting results. HLA-B27 itself is a serologic specificity, which encompasses 25 different alleles that encode 23 different products (proteins): HLA-B*2701 to B*2723. These alleles may have evolved from the most widespread subtype, B*2705, and two of them, B*2706 in Southeast Asia and B*2709 in Sardinia, seem not to be associated with ankylosing spondylitis. The distinction between the disease associated and nonassociated subtypes may provide clues to the actual role of B27 in disease pathogenesis.
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PMID:HLA-B27 and genetic predisposing factors in spondyloarthropathies. 1155 26

The aim of this study was to determine the frequency of mutated allele CYP2D6*4 in the Turkish ankylosing spondylitis (AS) patients and healthy controls. Hundred unrelated AS patients who were diagnosed and treated in the Physical Medicine and Rehabilitation Clinic of Ankara Numune Research and Training Hospital and 52 healthy control subjects were included in the study. The wild-type allele of CYP2D6 and the mutated allele CYP2D6*4 were detected by polymerase chain reaction and a subsequent hybridization reaction. CYP2D6*4 allele was not detected in 72 subjects (72%) of the AS patients. Among the remaining 28 patients, 7 (7%) were carriers of two *4 alleles, being homozygous for CYP2D6. Twenty-one patients (21%) were carriers of one *4 allele, being heterozygous for CYP2D6*4. Among the healthy control subjects (n = 52), 23% were heterozygous and 2% were homozygous for CYP2D6*4 polymorphism. The frequency of the CYP2D6*4 allele was 0.175 in the AS patients (100 patients; 200 alleles). The frequency of the CYP2D6*4 allele was 0.134 in control group (52 control subjects; 104 alleles). The odds ratios for development of the AS for the presence of one or two CYP2D6*4 alleles with no CYP2D6*4 alleles as baseline were calculated. No significant risk of AS development was observed for individuals with one or two CYP2D6*4 alleles. Findings of this study showed no significant association between CYP2D6*4 allele and AS in our population. Further studies with larger scaled groups should be performed.
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PMID:Frequency of mutated allele CYP2D6*4 in the Turkish ankylosing spondylitis patients and healthy controls. 1924 97