Condition Related References

Abacavir Sensitivity

  1. Mallal S, Phillips E, Carosi G, et al. HLA-B*5701 screening for hypersensitivity to abacavir. N Engl J Med. 2008;358(6):568-79.
  2. Saag M, Balu R, Phillips E, et al. High sensitivity of human leukocyte antigen-b*5701 as a marker for immunologically confirmed abacavir hypersensitivity in white and black patients. Clin Infect Dis. 2008;46(7):1111-8

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.

Allopurinol Sensitivity

  1. Hershfield MS, Callaghan JT, Tassaneeyakul W, et al. Clinical Pharmacogenetics Implementation Consortium guidelines for human leukocyte antigen-B genotype and allopurinol dosing. Clin Pharmacol Ther. 2013;93(2):153-8.
  2. Saito Y, Stamp LK, Caudle KE, et al. Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for human leukocyte antigen B (HLA-B) genotype and allopurinol dosing: 2015 update. Clin Pharmacol Ther. 2016;99(1):36-7.
  3. Yu KH, Yu CY, Fang YF. Diagnostic utility of HLA-B*5801 screening in severe allopurinol hypersensitivity syndrome: an updated systematic review and meta-analysis. Int J Rheum Dis. 2017;20(9):1057-1071..

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.

Carbamazepine Sensitivity

  1. Hsiao YH, Hui RC, Wu T, et al. Genotype-phenotype association between HLA and carbamazepine-induced hypersensitivity reactions: strength and clinical correlations. J Dermatol Sci. 2014;73(2):101-9.
  2. Sukasem C, Chaichan C, Nakkrut T, et al. Association between HLA-B Alleles and Carbamazepine-Induced Maculopapular Exanthema and Severe Cutaneous Reactions in Thai Patients. J Immunol Res. 2018;2018:2780272.
  3. Amstutz U, Shear NH, Rieder MJ, et al. Recommendations for HLA-B*15:02 and HLA-A*31:01 genetic testing to reduce the risk of carbamazepine-induced hypersensitivity reactions. Epilepsia. 2014;55(4):496-506.

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

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.

Mold Hypersensitivity

  1. Gray MR, Thrasher JD, Crago R, et al. Mixed mold mycotoxicosis: immunological changes in humans following exposure in water-damaged buildings. Arch Environ Health. 2003;58(7):410-20.
  2. Vlachopoulou E, Lahtela E, Wennerström A, et al. Evaluation of HLA-DRB1 imputation using a Finnish dataset. Tissue Antigens. 2014;83(5):350-5.
  3. Empting LD. Neurologic and neuropsychiatric syndrome features of mold and mycotoxin exposure. Toxicol Ind Health. 2009;25(9-10):577-81.
  4. Kilburn KH. Neurobehavioral and pulmonary impairment in 105 adults with indoor exposure to molds compared to 100 exposed to chemicals. Toxicol Ind Health. 2009;25(9-10):681-92.
  5. Knutsen AP, Vijay HM, Kumar V, et al. Mold-sensitivity in children with moderate-severe asthma is associated with HLA-DR and HLA-DQ. Allergy. 2010;65(11):1367-75.

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.

Penicillin Hypersensitivity

  1. Krebs, Kristi, et al. Genome-wide Study Identifies Association between HLA-B∗ 55: 01 and Self-Reported Penicillin Allergy. The American Journal of Human Genetics (2020).

Rheumatoid Arthritis

  1. Krebs, Kristi, et al. Genome-wide Study Identifies Association between HLA-B∗ 55: 01 and Self-Reported Penicillin Allergy. The American Journal of Human Genetics (2020).

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.

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