DOI QR코드

DOI QR Code

HLA and Disease Associations in Koreans

  • Ahn, Stephen (Department of Microbiology and Immunology, College of Medicine, The Catholic University of Korea) ;
  • Choi, Hee-Back (Catholic Hematopoietic Stem Cell Bank, College of Medicine, The Catholic University of Korea) ;
  • Kim, Tai-Gyu (Department of Microbiology and Immunology, College of Medicine, The Catholic University of Korea)
  • Received : 2011.10.01
  • Accepted : 2011.10.19
  • Published : 2011.12.31

Abstract

The human leukocyte antigen (HLA), the major histocompatibility complex (MHC) in humans has been known to reside on chromosome 6 and encodes cell-surface antigen-presenting proteins and many other proteins related to immune system function. The HLA is highly polymorphic and the most genetically variable coding loci in humans. In addition to a critical role in transplantation medicine, HLA and disease associations have been widely studied across the populations worldwide and are found to be important in prediction of disease susceptibility, resistance and of evolutionary maintenance of genetic diversity. Because recently developed molecular based HLA typing has several advantages like improved specimen stability and increased resolution of HLA types, the association between HLA alleles and a given disease could be more accurately quantified. Here, in this review, we have collected HLA association data on some autoimmune diseases, infectious diseases, cancers, drug responsiveness and other diseases with unknown etiology in Koreans and attempt to summarize some remarkable HLA alleles related with specific diseases.

Keywords

References

  1. Ghodke Y, Joshi K, Chopra A, Patwardhan B: HLA and disease. Eur J Epidemiol 20;475-88, 2005. https://doi.org/10.1007/s10654-005-5081-x
  2. Shiina T, Inoko H, Kulski JK: An update of the HLA genomic region, locus information and disease associations: 2004. Tissue Antigens 64;631-649, 2004 https://doi.org/10.1111/j.1399-0039.2004.00327.x
  3. Nepom GT: Class II antigens and disease susceptibility. Annu Rev Med 46;17-25, 1995. https://doi.org/10.1146/annurev.med.46.1.17
  4. Ota M, Katsuyama Y, Kimura A, Tsuchiya K, Kondo M, Naruse T, Mizuki N, Itoh K, Sasazuki T, Inoko H: A second susceptibility gene for developing rheumatoid arthritis in the human MHC is localized within a 70-kb interval telomeric of the TNF genes in the HLA class III region. Genomics 71;263-270, 2001. https://doi.org/10.1006/geno.2000.6371
  5. The International HIV Controllers Study: the major genetic determinants of HIV-1 control affect HLA class I peptide presentation. Science 330;1488-1490, 2010. https://doi.org/10.1126/science.1200035
  6. Nepom GT: MHC genes in HLA-associated disease. Curr Opin Immunol 2;588-592, 1989-1990. https://doi.org/10.1016/0952-7915(90)90015-9
  7. Kim TG, Choi HB, Park SH, Kim HY, Han H: DQCAR 113 and DQCAR 115 in combination with HLA-DRB1 alleles are significant markers of susceptibility to rheumatoid arthritis in the Korean population. Tissue Antigens 54;552-559, 1999. https://doi.org/10.1034/j.1399-0039.1999.540603.x
  8. Hong GH, Park MH, Takeuchi F, Oh MD, Song YW, Nabeta H, Nakano K, Ito K, Park KS: Association of specific amino acid sequence of HLA-DR with rheumatoid arthritis in Koreans and its diagnostic value. J Rheumatol 23;1699-1703, 1996.
  9. Kim HY, Kim TG, Park SH, Lee SH, Cho CS, Han H: Predominance of HLA-DRB$1^{*}$0405 in Korean patients with rheumatoid arthritis. Ann Rheum Dis 54;988-990, 1995. https://doi.org/10.1136/ard.54.12.988
  10. Lee HS, Chung YH, Kim TG, Kim TH, Jun JB, Jung S, Bae SC, Yoo DH: Independent association of HLA-DR and FCgamma receptor polymorphisms in Korean patients with systemic lupus erythematosus. Rheumatology (Oxford) 42; 1501-1507, 2003. https://doi.org/10.1093/rheumatology/keg404
  11. Hong GH, Kim HY, Takeuchi F, Nakano K, Yamada H, Matsuta K, Han H, Tokunaga K, Ito K, Park KS: Association of complement C4 and HLA-DR alleles with systemic lupus erythematosus in Koreans. J Rheumatol 21;442-447, 1994.
  12. Park KS, Kang SY, Lee WI: HLA-B27 subtypes in Korean patients with ankylosing spondylitis. Korean J Lab Med 28;46-52, 2008. https://doi.org/10.3343/kjlm.2008.28.1.46
  13. Joung CI, Lee HS, Lee SW, Kim CG, Song YH, Jun JB, Chung WT, Choe JY, Kim TG, Yoo DH: Association between HLA-DR B1 and clinical features of adult onset Still's disease in Korea. Clin Exp Rheumatol 21;489-492, 2003.
  14. Kang SH, Park MH, Song EY, Kang SJ, Lee EB, Song YW, Takeuchi F: Association of HLA class II genes with systemic sclerosis in Koreans. J Rheumatol 28;1577-1583, 2001.
  15. Zhou X, Lee JE, Arnett FC, Xiong M, Park MY, Yoo YK, Shin ES, Reveille JD, Mayes MD, Kim JH, Song R, Choi JY, Park JA, Lee YJ, Lee EY, Song YW, Lee EB: HLA-DPB1 and DPB2 are genetic loci for systemic sclerosis: a genome-wide association study in Koreans with replication in North Americans. Arthritis Rheum 60;3807-3814, 2009. https://doi.org/10.1002/art.24982
  16. Park SH, Park KS, Seo YI, Min DJ, Kim WU, Kim TG, Cho CS, Mok JW, Park KS, Kim HY: Association of MICA polymorphism with HLA-B51 and disease severity in Korean patients with Behcet's disease. J Korean Med Sci 17;366-370, 2002. https://doi.org/10.3346/jkms.2002.17.3.366
  17. Cho WK, Jung MH, Choi EJ, Choi HB, Kim TG, Suh BK: Association of HLA Alleles with autoimmune thyroid disease in Korean children. Horm Res Paediatr 76;328-334, 2011. https://doi.org/10.1159/000331134
  18. Jang HW, Shin HW, Cho HJ, Kim HK, Lee JI, Kim SW, Kim JW, Chung JH: Identification of HLA-DRB1 alleles associated with Graves' disease in Koreans by sequence-based typing. Immunol Invest 40;172-182, 2011. https://doi.org/10.3109/08820139.2010.525571
  19. Park MH, Park YJ, Song EY, Park H, Kim TY, Park DJ, Park KS, Cho BY: Association of HLA-DR and -DQ genes with Graves disease in Koreans. Hum Immunol 66;741-747, 2005.
  20. Cho BY, Chung JH, Shong YK, Chang YB, Han H, Lee JB, Lee HK, Koh CS: A strong association between thyrotropin receptor-blocking antibody-positive atrophic autoimmune thyroiditis and HLA-DR8 and HLA-DQB1*0302 in Koreans. J Clin Endocrinol Metab 77;611-615, 1993. https://doi.org/10.1210/jc.77.3.611
  21. Mignot E, Kimura A, Abbal M, Thorsby E, Lin X, Voros A, Macaubas C, Bouissou F, Sollid LM, Cambon-Thomsen A: DQCAR microsatellite polymorphisms in three selected HLA class II-associated diseases. Tissue Antigens 46;299-304, 1995. https://doi.org/10.1111/j.1399-0039.1995.tb02496.x
  22. Park YS, Wang CY, Ko KW, Yang SW, Park M, Yang MC, She JX: Combinations of HLA DR and DQ molecules determine the susceptibility to insulin-dependent diabetes mellitus in Koreans. Hum Immunol 59;794-801, 1998. https://doi.org/10.1016/S0198-8859(98)00076-7
  23. Kim TG, Lee HJ, Youn JI, Kim TY, Han H: The association of psoriasis with human leukocyte antigens in Korean population and the influence of age of onset and sex. J Invest Dermatol 114;309-313, 2000. https://doi.org/10.1046/j.1523-1747.2000.00863.x
  24. Lee HJ, Ha SJ, Han H, Kim JW: Distribution of HLA-A, B alleles and polymorphisms of TAP and LMP genes in Korean patients with atopic dermatitis. Clin Exp Allergy 31;1867-1874, 2001. https://doi.org/10.1046/j.1365-2222.2001.01042.x
  25. Kim YK, Oh SY, Oh HB, Lee BJ, Son JW, Cho SH, Kim YY, Min KU: Positive association between HLA-DRB1*07 and specific IgE responses to purified major allergens of D. pteronyssinus (Der p 1 and Der p 2). Ann Allergy Asthma Immunol 88;170-174, 2002. https://doi.org/10.1016/S1081-1206(10)61992-8
  26. Kim YK, Oh HB, Oh SY, Cho SH, Kim YY, Min KU: HLA-DRB1*07 may have a susceptibility and DRB1*04 a protective effect upon the development of a sensitization to house dust mite Dermatophagoides pteronyssinus. Clin Exp Allergy 31;110-115, 2001. https://doi.org/10.1046/j.1365-2222.2001.00950.x
  27. Choi JH, Lee KW, Oh HB, Lee KJ, Suh YJ, Park CS, Park HS: HLA association in aspirin-intolerant asthma: DPB1* 0301 as a strong marker in a Korean population. J Allergy Clin Immunol 113;562-564, 2004. https://doi.org/10.1016/j.jaci.2003.12.012
  28. Choi JH, Lee KW, Kim CW, Park CS, Lee HY, Hur GY, Kim SH, Hong CS, Jang AS, Park HS: The HLA DRB1*1501- DQB1*0602-DPB1*0501 haplotype is a risk factor for toluene diisocyanate-induced occupational asthma. Int Arch Allergy Immunol 150;156-163, 2009. https://doi.org/10.1159/000218118
  29. Hwang SH, Sohn YH, Oh HB, Hwang CY, Lee SH, Shin ES, Lee KJ: Human leukocyte antigen alleles and haplotypes associated with chronicity of hepatitis B virus infection in Koreans. Arch Pathol Lab Med 131;117-121, 2007.
  30. Park MH, Song EY, Ahn C, Oh KH, Yang J, Kang SJ, Lee HS: Two subtypes of hepatitis B virus-associated glomerulonephritis are associated with different HLA-DR2 alleles in Koreans. Tissue Antigens 62;505-511, 2003. https://doi.org/10.1046/j.1399-0039.2003.00141.x
  31. Yoon SK, Han JY, Pyo CW, Yang JM, Jang JW, Kim CW, Chang UI, Bae SH, Choi JY, Chung KW, Sun HS, Choi HB, Kim TG: Association between human leukocytes antigen alleles and chronic hepatitis C virus infection in the Korean population. Liver Int 25;1122-1127, 2005. https://doi.org/10.1111/j.1478-3231.2005.01105.x
  32. Kim HS, Park MH, Song EY, Park H, Kwon SY, Han SK, Shim YS: Association of HLA-DR and HLA-DQ genes with susceptibility to pulmonary tuberculosis in Koreans: preliminary evidence of associations with drug resistance, disease severity, and disease recurrence. Hum Immunol 66; 1074-1081, 2005. https://doi.org/10.1016/j.humimm.2005.08.242
  33. Kim HS, Park MH, Song EY, Park H, Kwon SY, Han SK, Shim YS: Association of HLA-DR and HLA-DQ genes with susceptibility to pulmonary tuberculosis in Koreans: preliminary evidence of associations with drug resistance, disease severity, and disease recurrence. Hum Immunol 66; 1074-1081, 2005. https://doi.org/10.1016/j.humimm.2005.08.242
  34. Kim HS, Park MH, Song EY, Park H, Kwon SY, Han SK, Shim YS: Association of HLA-DR and HLA-DQ genes with susceptibility to pulmonary tuberculosis in Koreans: preliminary evidence of associations with drug resistance, disease severity, and disease recurrence. Hum Immunol 66; 1074-1081, 2005. https://doi.org/10.1016/j.humimm.2005.08.242
  35. Kim HS, Park MH, Song EY, Park H, Kwon SY, Han SK, Shim YS: Association of HLA-DR and HLA-DQ genes with susceptibility to pulmonary tuberculosis in Koreans: preliminary evidence of associations with drug resistance, disease severity, and disease recurrence. Hum Immunol 66; 1074-1081, 2005. https://doi.org/10.1016/j.humimm.2005.08.242
  36. Kim SH, Lee KW, Song WJ, Kim SH, Jee YK, Lee SM, Kang HR, Park HW, Cho SH, Park SH, Min KU, Chang YS; Adverse Drug Reaction Research Group in Korea: Carbamazepine- induced severe cutaneous adverse reactions and HLA genotypes in Koreans. Epilepsy Res 97;190-197, 2011. https://doi.org/10.1016/j.eplepsyres.2011.08.010
  37. Kim SH, Kim M, Lee KW, Kim SH, Kang HR, Park HW, Jee YK: HLA-$B^{*}$5901 is strongly associated with methazolamide- induced Stevens-Johnson syndrome/toxic epidermal necrolysis. Pharmacogenomics 11;879-884, 2010. https://doi.org/10.2217/pgs.10.54
  38. Kang HR, Jee YK, Kim YS, Lee CH, Jung JW, Kim SH, Park HW, Chang YS, Jang IJ, Cho SH, Min KU, Kim SH, Lee KW; Adverse Drug Reaction Research Group in Korea: Positive and negative associations of HLA class I alleles with allopurinol-induced SCARs in Koreans. Pharmacogenet Genomics 21;303-307, 2011. https://doi.org/10.1097/FPC.0b013e32834282b8
  39. Yeo SW, Chang KH, Suh BD, Kim TG, Han H: Distribution of HLA-A, -B and -DRB1 alleles in patients with sudden sensorineural hearing loss. Acta Otolaryngol 120;710-715, 2000. https://doi.org/10.1080/000164800750000225
  40. Yeo SW, Park SN, Park YS, Suh BD, Han H, Choi HB, Kim TG: Different distribution of HLA class II alleles according to response to corticosteroid therapy in sudden sensorineural hearing loss. Arch Otolaryngol Head Neck Surg 127;945-949, 2001. https://doi.org/10.1001/archotol.127.8.945
  41. Yeo SW, Park SN, Jeon EJ, Lee HY, Pyo CW, Kim TG: Influence of human leukocyte antigen in the pathogenesis of Ménière's disease in the South Korean population. Acta Otolaryngol 122;851-856, 2002. https://doi.org/10.1080/003655402/000028046
  42. Koo JW, Oh SH, Chang SO, Park MH, Lim MJ, Yoo TJ, Kim CS: Association of HLA-DR and type II collagen autoimmunity with Meniere's disease. Tissue Antigens 61;99- 103, 2003. https://doi.org/10.1034/j.1399-0039.2003.610112.x
  43. Kim MH, Seong MC, Kwak NH, Yoo JS, Huh W, Kim TG, Han H: Association of HLA with Vogt-Koyanagi-Harada syndrome in Koreans. Am J Ophthalmol 129;173-177, 2000. https://doi.org/10.1016/S0002-9394(99)00434-1
  44. Kim MH, Seong MC, Kwak NH, Yoo JS, Huh W, Kim TG, Han H: Association of HLA with Vogt-Koyanagi-Harada syndrome in Koreans. Am J Ophthalmol 129;173-177, 2000. https://doi.org/10.1016/S0002-9394(99)00434-1
  45. Park MH, Park YB: HLA typing of Takayasu arteritis in Korea. Heart Vessels Suppl 7;81-84, 1992. https://doi.org/10.1007/BF01744549
  46. Oh JH, Han JW, Lee SJ, Lee KY, Suh BK, Koh DK, Lee JS, Oh CK, Kim TG, Choi HB: Polymorphisms of human leukocyte antigen genes in korean children with Kawasaki disease. Pediatr Cardiol 29;402-408, 2008. https://doi.org/10.1007/s00246-007-9146-3
  47. Han H, Pyo CW, Yoo DS, Huh PW, Cho KS, Kim DS: Associations of Moyamoya patients with HLA class I and class II alleles in the Korean population. J Korean Med Sci 18;876-880, 2003. https://doi.org/10.3346/jkms.2003.18.6.876
  48. Yoon SH, Oh HB, Kim HK, Hong SC, Oh YM, Lee DS, Lee SD: Association of HLA class II genes with idiopathic pulmonary arterial hypertension in Koreans. Lung 185;145-149, 2007. https://doi.org/10.1007/s00408-007-9006-1
  49. Park MH, Kim YW, Yoon HI, Yoo CG, Han SK, Shim YS, Kim WD: Association of HLA class I antigens with diffuse panbronchiolitis in Korean patients. Am J Respir Crit Care Med 159;526-529, 1999. https://doi.org/10.1164/ajrccm.159.2.9805047
  50. Myung SJ, Yang SK, Jung HY, Chang HS, Park B, Hong WS, Kim JH, Min I: HLA-DRB1*1502 confers susceptibility to ulcerative colitis, but is negatively associated with its intractability: a Korean study. Int J Colorectal Dis 17;233-237, 2002. https://doi.org/10.1007/s00384-001-0381-4
  51. Kim JJ, Hwang KR, Shin S, Yoon JH, Kim BJ, Choi YM, Roh EY: Association of polycystic ovarian syndrome with human leukocyte antigen polymorphism in Korean women. APMIS 119;618-625, 2011. https://doi.org/10.1111/j.1600-0463.2011.02779.x
  52. Whang DH, Kim SH, Park MH, Choi YM: Association of HLA-A, B antigens with susceptibility to advanced endometriosis in Koreans. Korean J Lab Med 28;118-123, 2008. https://doi.org/10.3343/kjlm.2008.28.2.118
  53. Whang DH, Kim SH, Choi YM, Park MH, Noh JH, Kim YB: No association between HLA-DRB1 alleles and susceptibility to advanced stage endometriosis in a Korean population. Hum Reprod 21;129-133, 2006. https://doi.org/10.1093/humrep/dei304
  54. Song EY, Kang HJ, Shin HY, Ahn HS, Kim I, Yoon SS, Park S, Kim BK, Park MH: Association of human leukocyte antigen class II alleles with response to immunosuppressive therapy in Korean aplastic anemia patients. Hum Immunol 71;88-92, 2010. https://doi.org/10.1016/j.humimm.2009.10.002
  55. Jun TY, Pae CU, Chae JH, Pyo CW, Han H: Human leukocyte antigen alleles in patients with bipolar disorder in the Korean population. Psychiatry Clin Neurosci 56;453-457, 2002. https://doi.org/10.1046/j.1440-1819.2002.01035.x
  56. Hong SC, Lin L, Lo B, Jeong JH, Shin YK, Kim SY, Kweon Y, Zhang J, Einen M, Smith A, Hansen J, Grumet FC, Mignot E: DQB1*0301 and DQB1*0601 modulate narcolepsy susceptibility in Koreans. Hum Immunol 68;59-68, 2007. https://doi.org/10.1016/j.humimm.2006.10.006
  57. Roh EY, Park MH, Park H, Park DH, Choi JB, Kim SJ, Jeong DU: Association of HLA-DR and -DQ genes with narcolepsy in Koreans: comparison with two control groups, randomly selected subjects and DRB1*1501-DQB1*0602--positive subjects. Hum Immunol 67;749-755, 2006. https://doi.org/10.1016/j.humimm.2006.03.024
  58. Hill AV: Immunogenetics and genomics. Lancet 357;2037- 2041, 2001. https://doi.org/10.1016/S0140-6736(00)05117-5

Cited by

  1. Humanes Leukozytenantigensystem in der Augenheilkunde vol.110, pp.9, 2011, https://doi.org/10.1007/s00347-013-2861-7
  2. Association of HLA-B*51:01 with Papillary Thyroid Carcinoma in the Chinese Han Population of the Shandong Coastal Areas vol.24, pp.5, 2011, https://doi.org/10.1089/thy.2013.0130
  3. Thyrotropin Receptor Epitope and Human Leukocyte Antigen in Graves’ Disease vol.7, pp.None, 2011, https://doi.org/10.3389/fendo.2016.00120
  4. Comprehensive Analysis of CD4+ T Cell Responses to CMV pp65 Antigen Restricted by Single HLA-DR, -DQ, and -DP Allotype Within an Individual vol.11, pp.None, 2011, https://doi.org/10.3389/fimmu.2020.602014