Addison’s Disease

  1. Badenhoop K et al. Susceptibility and resistance alleles of human leukocyte antigen (HLA) DQA1 and HLA DQB1 are shared in endocrine autoimmune disease. J Clin Endocrinol Metab. 1995; 80:2112.
  2. Ghaderi M et al. MHC2TA single nucleotide polymorphism and genetic risk for autoimmune adrenal insufficiency. J Clin Endocrinol Metab. 2006; 91:4107.
  3. Gylling M et al. ss-cell autoantibodies, human leukocyte antigen II alleles, and type 1 diabetes in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. J Clin Endocrinol Metab. 2000; 85:4434.
  4. Maclaren NK et al. Thyroid, gastric, and adrenal autoimmunities associated with insulin-dependent diabetes mellitus. Diabetes Care. 1985; 8 Suppl 1:34.
  5. Partanen J et al. Major histocompatibility complex class II and III in Addison’s disease. MHC alleles do not predict autoantibody specificity and 21-hydroxylase gene polymorphism has no independent role in disease susceptibility. Hum Immunol. 1994; 41:135.

Ankylosing Spondylitis

  1. Evans DM et al. Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility. Nat Genet. 2011; 43:761.
  2. Granfors K et al. The cutting edge of spondylarthropathy research in the millennium. Arthritis Rheum. 2002; 46:606.
  3. Reveille JD. Genetics of spondyloarthritis–beyond the MHC. Nat Rev Rheumatol. 2012; 8:296.
  4. Reveille JD. Recent studies on the genetic basis of ankylosing spondylitis. Curr Rheumatol Rep. 2009; 11:340.
  5. Uchanska-Ziegler B et al. Structural and dynamic features of HLA-B27 subtypes. Curr Opin Rheumatol. 2013; 25:411.

Behçet’s Disease

  1. Ahmad T et al. Mapping the HLA association in Behçet’s disease: a role for tumor necrosis factor polymorphisms? Arthritis Rheum. 2003; 48:807.
  2. de Menthon M et al. HLA-B51/B5 and the risk of Behçet’s disease: a systematic review and meta-analysis of case-control genetic association studies. Arthritis Rheum. 2009; 61:1287.
  3. Kötter I et al. Comparative analysis of the association of HLA-B*51 suballeles with Behçet’s disease in patients of German and Turkish origin. Tissue Antigens. 2001; 58:166.
  4. Mahr A et al. Population-based prevalence study of Behçet’s disease: differences by ethnic origin and low variation by age at immigration. Arthritis Rheum. 2008; 58:3951.
  5. Yazici H et al. Behçet’s syndrome is not so rare: why do we need to know? Arthritis Rheum. 2008; 58:3640.

Birdshot Chorioretinopathy

  1. LeHoang P et al. HLA-A29.2 subtype associated with birdshot retinochoroidopathy. Am J Ophthalmol. 1992; 113:33.
  2. Rosenbaum JT. Acute anterior uveitis and spondyloarthropathies. Rheum Dis Clin North Am. 1992; 18:143.
  3. Lyons JL et al. Uveitis associated with inflammatory bowel disease compared with uveitis associated with spondyloarthropathy. Arch Ophthalmol. 1997; 115:61.

Celiac Disease

  1. Megiorni F et al. HLA-DQ and risk gradient for celiac disease. Hum Imm. 2009; 70:55-59.
  2. Megiorni F et al. HLA-DQA1 and HLA-DQB1 in celiac disease predisposition: practical implications of the HLA molecular typing. J of Biomed Sci. 2012; 19:88.
  3. Abadie et al. Integration of genetic and immunological insights into a model of celiac disease pathogenesis. Annu. Rev. Immunol. 2011; 29:493-525.
  4. Kagnoff MF. Celiac disease: pathogenesis of a model immunogenetic disease. J Clin Invest. 2007; 117:41-49.
  5. Megiorni F et al. HLA-DQ and susceptibility to celiac disease: evidence for gender differences and parent-of-origin effects. Am J Gastroenterol. 2008; 103:997-1003.
  6. Karell et al. HLA types in celiac disease patients not carrying the DQA1*05-DQB1*02(DQ2) heterodimer: results from the European genetics cluster of celiac disease. Hum Immunol. 2003; 64:469-477

Type 1 Diabetes Mellitus

  1. Pietropaolo M et al. Progression to insulin-requiring diabetes in seronegative prediabetic subjects: the role of two HLA-DQ high-risk haplotypes. Diabetologia. 2002; 45:66.
  2. Pugliese A et al. HLA-DQB1*0602 is associated with dominant protection from diabetes even among islet cell antibody-positive first-degree relatives of patients with IDDM. Diabetes. 1995; 44:608.
  3. Rewers M et al. Newborn screening for HLA markers associated with IDDM: diabetes autoimmunity study in the young (DAISY). Diabetologia. 1996; 39:807.
  4. Thomson G et al. Genetic heterogeneity, modes of inheritance, and risk estimates for a joint study of Caucasians with insulin-dependent diabetes mellitus. Am J Hum Genet. 1988; 43:799.
  5. Undlien DE et al. HLA-encoded genetic predisposition in IDDM: DR4 subtypes may be associated with different degrees of protection. Diabetes. 1997; 46:143.
  6. McCulloch DK et al. Prediction of type 1 diabetes mellitus. UpToDate. Last Updated Apr 01, 2014.

Graves’ Disease

  1. Bahn RS. Graves’ ophthalmopathy. N Engl J Med. 2010; 362:726.
  2. Ban Y et al. Arginine at position 74 of the HLA-DR beta1 chain is associated with Graves’ disease. Genes Immun. 2004; 5:203.
  3. Chen QY et al. HLA-DRB1*08, DRB1*03/DRB3*0101, and DRB3*0202 are susceptibility genes for Graves’ disease in North American Caucasians, whereas DRB1*07 is protective. J Clin Endocrinol Metab. 1999; 84:3182.
  4. Grubeck-Loebenstein B et al. Retrobulbar T cells from patients with Graves’ ophthalmopathy are CD8+ and specifically recognize autologous fibroblasts. J Clin Invest. 1994; 93:2738.
  5. Sekiguchi Y et al. Reverse ‘see-saw’ relationship between Graves’ disease and myasthenia gravis; clinical and immunological studies. J Med Dent Sci. 2005; 52:43.

Multiple Sclerosis

  1. Banwell BL. Pediatric multiple sclerosis. Curr Neurol Neurosci Rep. 2004; 4:245.
  2. Friese MA et al. Opposing effects of HLA class I molecules in tuning autoreactive CD8+ T cells in multiple sclerosis. Nat Med. 2008; 14:1227.
  3. Lincoln MR et al. A predominant role for the HLA class II region in the association of the MHC region with multiple sclerosis. Nat Genet. 2005; 37:1108.
  4. Nolan D et al. Contributions of vitamin D response elements and HLA promoters to multiple sclerosis risk. Neurology. 2012; 79:538.
  5. Ramagopalan SV et al. Expression of the multiple sclerosis-associated MHC class II Allele HLA-DRB1*1501 is regulated by vitamin D. PLoS Genet. 2009; 5:e1000369.
  6. Renoux C et al. Natural history of multiple sclerosis with childhood onset. N Engl J Med. 2007; 356:2603.


  1. Hinze-Selch D et al. In vivo and in vitro immune variables in patients with narcolepsy and HLA-DR2 matched controls. Neurology. 1998; 50:1149.
  2. Hor H et al. Genome-wide association study identifies new HLA class II haplotypes strongly protective against narcolepsy. Nat Genet. 2010; 42:786.
  3. Mignot E et al. HLA DQB1*0602 is associated with cataplexy in 509 narcoleptic patients. Sleep. 1997; 20:1012.
  4. Mignot E et al. Complex HLA-DR and -DQ interactions confer risk of narcolepsy-cataplexy in three ethnic groups. Am J Hum Genet. 2001; 68:686.
  5. Miyagawa T et al. Identification of a telomeric boundary of the HLA region with potential for predisposition to human narcolepsy. Immunogenetics. 2000; 52:12.

Rheumatoid Arthritis

  1. Cope AP et al. T cell responses to a human cartilage autoantigen in the context of rheumatoid arthritis-associated and nonassociated HLA-DR4 alleles. Arthritis Rheum. 1999; 42:1497.
  2. du Montcel ST et al. New classification of HLA-DRB1 alleles supports the shared epitope hypothesis of rheumatoid arthritis susceptibility. Arthritis Rheum. 2005; 52:1063.
  3. Hill JA et al. Cutting edge: the conversion of arginine to citrulline allows for a high-affinity peptide interaction with the rheumatoid arthritis-associated HLA-DRB1*0401 MHC class II molecule. J Immunol. 2003; 171:538.
  4. Huizinga TW et al. Refining the complex rheumatoid arthritis phenotype based on specificity of the HLA-DRB1 shared epitope for antibodies to citrullinated proteins. Arthritis Rheum. 2005; 52:3433.
  5. Klareskog L et al. A new model for an etiology of rheumatoid arthritis: smoking may trigger HLA-DR (shared epitope)-restricted immune reactions to autoantigens modified by citrullination. Arthritis Rheum. 2006; 54:38.
  6. Maksymowych WP et al. HLA and cytokine gene polymorphisms in relation to occurrence of palindromic rheumatism and its progression to rheumatoid arthritis. J Rheumatol. 2002; 29:2319.

Sjögren’s Syndrome

  1. Arnett FC. Histocompatibility typing in the rheumatic diseases. Diagnostic and prognostic implications. Rheum Dis Clin North Am. 1994; 20:371.
  2. Cruz-Tapias P et al. HLA and Sjögren’s syndrome susceptibility. A meta-analysis of worldwide studies. Autoimmun Rev. 2012 Feb;11(4):281-7.
  3. Bolstad AI et al. HLA markers and clinical characteristics in Caucasians with primary Sjögren’s syndrome. J Rheumatol. 2001; 28:1554.
  4. Kang HI et al. Comparison of HLA class II genes in Caucasoid, Chinese, and Japanese patients with primary Sjögren’s syndrome. J Immunol. 1993; 150:3615.
  5. Mattey DL et al. Association between HLA-DRB1*15 and secondary Sjögren’s syndrome in patients with rheumatoid arthritis. J Rheumatol. 2000; 27:2611.
  6. Takahashi M et al. HLA and CTLA4 polymorphisms may confer a synergistic risk in the susceptibility to Graves’ disease. J Hum Genet. 2010; 55:323.
  7. El Miedany YM. Hyperprolactinemia in Sjogren’s syndrome: a patient subset or a disease manifestation? Joint Bone Spine. 2004 May; 71(3):203-8.

Systemic Lupus Erythematosus

  1. Barcellos LF et al. High-density SNP screening of the major histocompatibility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions. PLoS Genet. 2009; 5:e1000696.
  2. Danchenko N et al. Epidemiology of systemic lupus erythematosus: a comparison of worldwide disease burden. Lupus. 2006; 15:308.
  3. Galeazzi M et al. Anti-ganglioside antibodies in a large cohort of European patients with systemic lupus erythematosus: clinical, serological, and HLA class II gene associations. European Concerted Action on the Immunogenetics of SLE. J Rheumatol. 2000; 27:135.
  4. International MHC and Autoimmunity Genetics Network, Rioux JD et al. Mapping of multiple susceptibility variants within the MHC region for 7 immune-mediated diseases. Proc Natl Acad Sci U S A. 2009; 106:18680.

Please contact Kashi  for further scientific reference papers.