High-resolution HLA-DRB1 genotyping in an Australian inclusion body myositis (s-IBM) cohort: An analysis of disease-associated alleles and diplotypes

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• 作者：Arada Rojana-udomsart ; Ian James ; Alison Castley ; Merrilee Needham ; Adrian Scott ; Timothy Day ; Lynette Kiers ; Alastair Corbett ; Carolyn Sue ; Campbell Witt ; Patricia Martinez ; Frank Christiansen ; Frank Mastaglia
• 关键词：Sporadic inclusion body myositis ; HLA-DRB1 alleles ; Diplotypes ; High-resolution genotyping ; Disease risk ; Clinical phenotype
• 刊名：Journal of Neuroimmunology
• 出版年：2012
• 出版时间：15 September, 2012
• 年：2012
• 卷：250
• 期：1-2
• 页码：77-82
• 全文大小：381 K

文摘

We performed high-resolution (4-digit) HLA-DRB1 genotyping in an Australian cohort of 105s-IBM patients and 189 controls. Our findings showed that whilst the strongest association was with the HLA-DRB1*03:01 allele and the HLA-DRB1*03:01/*01:01 diplotype, HLA-DRB1*01:01 and HLA-DRB1*13:01 are also risk alleles. A number of other alleles, HLA-DRB1*04:01, *04:04, *07:01, *09:01, *11:01 and *15:01, as well as the HLA-DRB1*03:01/*04:01 and HLA-DRB1*03:01/*07:01 diplotypes were reduced in s-IBM cases and may be protective. The HLA-DRB1*03:01 and HLA-DRB1*13:01 alleles also appear to have an influence on the age at onset of the disease and severity of muscle weakness. Our findings indicate that the influence of HLA-DRB1 in s-IBM is complex and that epistatic interactions at the HLA-DRB1 locus contribute both to disease susceptibility and to the clinical phenotype.