2006
DOI: 10.2174/138161206778559759
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The Role of HLA Promoters in Autoimmunity

Abstract: Population studies reveal HLA class I and class II gene polymorphisms associated with all the common chronic autoimmune diseases, notably spondylarthropathies, rheumatoid arthritis, multiple sclerosis and type I diabetes. We here discuss the exceptionally high levels of nucleotide diversity in the MHC region likely to reflect not only balancing selection acting on the epitope binding sites but also natural selection operating on the promoter region. The latter possibility is supported by functional studies wit… Show more

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Cited by 28 publications
(24 citation statements)
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“…Indeed, many autoimmune conditions have been associated with specific HLA loci, including type 1 diabetes, thyroiditis, celiac disease, multiple sclerosis and ankylosing spondylosis (Muller-Hilke and Mitchison, 2006). More recently, positive and negative HLA associations with infectious diseases have been reported (Hill et al , 1991; Hill et al , 1994; Ivic et al , 2007; McAulay et al , 2007; Thio et al , 2003; Thursz et al , 1995).…”
Section: Introductionmentioning
confidence: 99%
“…Indeed, many autoimmune conditions have been associated with specific HLA loci, including type 1 diabetes, thyroiditis, celiac disease, multiple sclerosis and ankylosing spondylosis (Muller-Hilke and Mitchison, 2006). More recently, positive and negative HLA associations with infectious diseases have been reported (Hill et al , 1991; Hill et al , 1994; Ivic et al , 2007; McAulay et al , 2007; Thio et al , 2003; Thursz et al , 1995).…”
Section: Introductionmentioning
confidence: 99%
“…Extensive investigations of the polymorphic HLA alleles, which have established implications for chronic inflammation in the transplantation setting, have also led to associations with various autoimmune diseases. However, no HLA allele has been proven necessary or sufficient to cause autoimmune disease, and research is ongoing to establish a mechanism leading to disease [3]. Major drawbacks of the genespecific approach are the inefficiency of studying one gene at a time and the variability in polymorphisms among different races, requiring any gene association to be tested in multiple populations.…”
Section: Methods To Analyze Complex Genetic Traitsmentioning
confidence: 99%
“…The HLA region is highly polymorphic and has been linked with the predisposition or protection to multiple autoimmune disorders (reviewed in refs. [31,32]). Previous studies have shown the association between particular HLA haplotypes and GD, but HT seems to be less influenced by the HLA region [29,33].…”
Section: Human Leukocyte Antigen (Hla)mentioning
confidence: 99%