Human leukocyte antigen (HLA) determination and risk of developing autoimmune PAI
This protocol is extracted from research article:
The natural history of 21-hydroxylase autoantibodies in autoimmune Addison’s disease
Eur J Endocrinol, Jan 29, 2021; DOI: 10.1530/EJE-20-1268

Genotypes for HLA-DRB1 and HLA-DQB1 were analysed with a PCR-based sequence-specific oligonucleotide probe system at four-digit resolution or imputed from the Global Screening Array chip (15, 18). The HLA-DQA1 alleles and the HLA-DRB1-DQA1-DQB1 haplotypes were deduced based on known patterns of linkage disequilibrium in the Norwegian population. The HLA-DRB1-DQA1-DQB1 genotypes were stratified into three risk categories according to previously reported risk HLA variants for autoimmune PAI (12, 15) (Table 2), also supported by data from a recent genome-wide association study on autoimmune PAI (18).

Classification of HLA genotypes and applied risk class.

* Intermediate: The combination of any of the following HLA-DRB1-DQA1-DQB1 haplotypes: *1401-*0101-*0503, *15-*0102-*0602/*0611, *07-*0201-*0303, *0401-*0301-*0301, *0801-*0401-*04, *11-*0501 -*0301and/or *12-*0501-*0301.

*Low risk: Combination of the HLA-types in the ‘Intermediate risk’ category or the combination of any of the following HLA-DRB1-DQA1-DQB1 haplotypes:*01/*10-*0101-*0501, *1301-*0103-*0603, *1302-*0201-*0604, and/or *07-*0201-*0201.

HLA-data from 285 of the included PAI patients (isolated PAI and APS-II) with disease duration < 5 years at sampling were available. The genotypes were categorised into the three groups according to the estimated risk these variants confer for developing PAI ; n = 70, low risk, n = 115, intermediate risk, and n = 100, high risk (Table 2). In the mixed effects model explained below where all patients in the registry with >2 samples were included, there were 80, 91 and 107 individuals in each of the risk groups, respectively.

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