Human Leukocyte Antigen (HLA) part 45

hla protein 1


HLA haplotype can indeed explain some missintrerpreted associations such as narcolepsy, where an apparent association with HLA-DRB1*15 was later found to be actually attributed to an HLA-DQ allele in the haplotype, HLA-DQB1*0602, which is in close linkage disequilibrium with the hypocretin receptor 2 gene. Linkage disequilibrium has been implicated  in hereditary  hemochromatosis, where an apparent association with HLA-A alleles was later determined to be actually due to two point mutations in a non-classical class I HLA gene, HFE, that are found in linkage disequilibrium  with HLA-A3 and HLA-A29 alleles. However, both haplotype-based association and  linkage disequilibrium merely direct the blame at another gene and do not provide  testable hypothesis to explain the pathogenic mechanism of HLA molecules in disease aetiology.


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