There are several examples of these associations table 1. It is now over forty years since the first associations between particular hla antigens and disease susceptibility were described, and the identification of large numbers hla. A highresolution hla and snp haplotype map for disease. Hla alleles and disease susceptibility, interpretation of the data is confounded by the strong. Role of human leukocyte antigens hla in autoimmune diseases.
Hlas associated with specific diseases master of medicine. Several population studies are available suggesting evidence of association of hlas in more than. The high resolution typing of class i and class i mhc genes and the identification of other genes in the region have increased the definition of the genetic basis of immune responses and diseases of unknown etiology such as the autoimmune diseases. Hla b51 is the predominant risk factor for bd in all populations studied, however not all bd patients carry the b51 allele. Hlab27 has the strongest association with as among disease entities of the spa group, especially in caucasians, with 8896% of patients. Another layer of complexity is provided to the region by the extreme structural variation and copy number variations. Hla testing, in addition to its usefulness in donor selection for transplantation, has been recently applied to the diagnosis and differentiation of specific diseases, the prediction of disease development risk prediction, and as a basis for prognostic evaluations. Reference ranges provided on this web site are for guidance only, and may not reflect the most recent changes. Hla s associated with specific diseases posted by admin on march 16, 2011 leave a comment 0 go to comments hla types associated with various diseases is. Hla in gastrointestinal inflammatory disorders intechopen. Some hla genes have hundreds of identified versions alleles. Understanding hla associations from snp summary association.
This disease is found most often in individuals that carry the hla b51 allele of the major histocompatibily complex mhc. The clinical utility of specific hla disease associations in disease diagnosis exclusion is also considered. The association between the human major histocompatibility complex mhc, hla human leukocyte antigenb27 and its spectrum of hla b27associated inflammatory diseases and acute anterior uveitis was originally described in 1973, and remains one of the strongest hla disease associations brewerton et al. Explanations for hladisease associations see chapter 5 include the presence, within. Association of components of the hla class ii encoded hladrb1dqa1dqb1 haplotype has been detected with several aids, including rheumatoid arthritis. The clinical utility of specific hla disease associations in disease diagnosisexclusion is also considered. Human leukocyte antigen disease association an overview. It is fair to say that the mechanisms underlying hla disease associations are still not fully. While the hla b gene has the highest number of alleles, the hla drdq subregion is structurally most variable and shows the highest number of disease associations.
Numerous studies have demonstrated association between hla alleles and disease susceptibility a partial list is provided in table 1 and supplementary table 1 online. Disease associations the observation that some diseases are distinctly more common in individuals with a particular hlaallele or haplotype allowed studies on hla and disease associations. This study illustrated the usefulness of the dish method in understanding and identifying diseaseassociated hla variants in human diseases. What has gwas done for hla and disease associations. The list of infectious diseases associated with the hla system is constantly increasing and the level of association is quite variable.