Thursday, January 17, 2019
Human Leukocyte Antigen (HLA) part 45
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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