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)

The Major Histocompatibility Complex (MHC) occupies 4-6 megabases on the short arm of chromosome 6 and is the most intensively studied segment of the human genome. This region was first discovered through its influence on transplantation rejection and on antigen-specific immune responses. The most important genes for managing these functions encode the HLA molecules (human leucocyte antigens) which are highly polymorphic in human populations. HLA typing for these polymorphisms is widely used in clinical medicine when identifying optimal organ donors or recipients and in assessing the risk of diseases such as narcolepsy, hereditary hemochromatosis, ankylosing spondylitis and certain autoimmune disorders. As new genes are identified in the MHC, the clinical impact of this genetic region is likely to assume further importance as outlined in this review.
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PMID:The human leucocyte antigens and clinical medicine: an overview. 1125 70

A 27-year-old woman had progressive bony ankylosis over both hands since she was 5 years old. Bony ankylosing over the peripheral joints and spine slowly progressed, and scoliosis surgery was performed at age 14. Recently, she developed difficulty walking, changing position, and opening her mouth. A neurologist was consulted and ruled out the suspicion of narcolepsy. Chest CT showed ankylosing spondylitis. A bone scan showed a bizarre pattern with radiouptake to the left maxilla, bilateral sacroiliac joints, left middle third femur, and soft tissue uptake over bilateral arms, legs, and pelvis. Regional radiograph suggested fibrodysplasia ossificans progressiva.
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PMID:A Bizarre Bone Scan of Fibrodysplasia Ossificans Progressiva. 2965 94

Ancestral haplotypes are conserved but extremely polymorphic kilobase sequences, which have been faithfully inherited over at least hundreds of generations in spite of migration and admixture. They carry susceptibility and resistance to diverse diseases, including deficiencies of CYP21 hydroxylase (47.1) and complement components (18.1), as well as numerous autoimmune diseases (8.1). The haplotypes are detected by segregation within ethnic groups rather than by SNPs and GWAS. Susceptibility to some other diseases is carried by specific alleles shared by multiple ancestral haplotypes, e.g., ankylosing spondylitis and narcolepsy. The difference between these two types of association may explain the disappointment with many GWAS. Here we propose a pathway for combining the two different approaches. SNP typing is most useful after the conserved ancestral haplotypes have been defined by other methods.
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PMID:MHC Genomics and Disease: Looking Back to Go Forward. 3143 77