IMMUNE NETWORK

The Korean Association of Immunobiologists (대한면역학회)
권호 표지

Distributions of HLA Microsatellite Markers and the Linkage Disequilibria between HLA and Microsatellites in Koreans

한국인에서 HLA 유전자 부위 내 Microsatellite 표지자의 분포와 HLA 대립유전자의 유전적 연관성

  • Jang, Jung-Pil (Department of Microbiology, College of Medicine, The Catholic University of Korea) ;
  • Choi, Eun-Jeong (Catholic Hematopoietic Stem Cell Bank, College of Medicine, The Catholic University of Korea) ;
  • Yoon, Ho-Yeul (Catholic Hematopoietic Stem Cell Bank, College of Medicine, The Catholic University of Korea) ;
  • Choi, Hee-Baeg (Catholic Hematopoietic Stem Cell Bank, College of Medicine, The Catholic University of Korea) ;
  • Kim, Hee-Je (Catholic Hematopoietic Stem Cell Transplantation Center, College of Medicine, The Catholic University of Korea) ;
  • Cho, Byung-Sik (Catholic Hematopoietic Stem Cell Transplantation Center, College of Medicine, The Catholic University of Korea) ;
  • Min, Woo-Sung (Catholic Hematopoietic Stem Cell Transplantation Center, College of Medicine, The Catholic University of Korea) ;
  • Lee, Jong-Wook (Catholic Hematopoietic Stem Cell Transplantation Center, College of Medicine, The Catholic University of Korea) ;
  • Kim, Chun-Choo (Catholic Hematopoietic Stem Cell Transplantation Center, College of Medicine, The Catholic University of Korea) ;
  • Kim, Tai-Gyu (Department of Microbiology, College of Medicine, The Catholic University of Korea)
  • 장정필 (가톨릭대학교 의과대학 미생물학교실) ;
  • 최은정 (가톨릭대학교 의과대학 가톨릭조혈모세포은행) ;
  • 윤호열 (가톨릭대학교 의과대학 가톨릭조혈모세포은행) ;
  • 최희백 (가톨릭대학교 의과대학 가톨릭조혈모세포은행) ;
  • 김희제 (가톨릭대학교 의과대학 가톨릭조혈모세포이식센터) ;
  • 조병식 (가톨릭대학교 의과대학 가톨릭조혈모세포이식센터) ;
  • 민우성 (가톨릭대학교 의과대학 가톨릭조혈모세포이식센터) ;
  • 이종욱 (가톨릭대학교 의과대학 가톨릭조혈모세포이식센터) ;
  • 김춘추 (가톨릭대학교 의과대학 가톨릭조혈모세포이식센터) ;
  • 김태규 (가톨릭대학교 의과대학 미생물학교실)
  • Published : 2007.09.30
Download PDF
⟨ Previous Next ⟩

Abstract

Background: The microsatellites within human leukocyte antigen (HLA) region show considerable polymorphism and strong linkage disequilibrium (LD) with HLA alleles. These microsatellites have been used for genetic analysis including disease mapping to understand susceptibility to autoimmune and infectious diseases. Also, use of microsatellites has recently been proposed as an approach for identifying non-HLA markers within the HLA region that could function as transplantation determinants and for the selection of potential donors for transplantation. Methods: To analyse the frequency of five microsatellites in the Korean population, genotyping for polymorphisms at five microsatellites markers (BAT2, MIB, DQCAR, D6S105 and TNFd) within HLA region was performed on 143 healthy Korean controls. Results: The most frequent genotype shown in healthy Korean controls were BAT2 8 (153 bp, 42.7%), MIB 1 (326 bp, 40.6%), DQCAR 3 (188 bp, 38.5%), D6S105 7 (126 bp, 58.0%) and TNFd 3 (128 bp, 58.0%). And common two-loci haplotypes were found as MIB 1-HLA-B*62 (HF: 10.6%), MIB 6-HLA-B*44 (HF: 7.8%), DQCAR 3-HLA-DRB1*13 (HF: 8.5%), TNFd 5-HLA-B*62 (HF: 7.8%) and D6S105 7-HLA-A*02 (HF: 16.2%). Conclusion: These data might provide useful information on the microsatellites markers with HLA region in Korean population and be helpful in further defining the clinical impact of these microsatellites.

Keywords

References

  1. Malkki M, Gooley T, Horowitz M, Petersdorf EW: MHC class I, II, and III microsatellite marker matching and survival in unrelated donor hematopoietic cell transplantation. Tissue Antigens 69;46-49, 2007 https://doi.org/10.1111/j.1399-0039.2006.759_6.x
  2. Tamiya G, SOhkiaina TA, Tomizawa M, Ota M, Katsuyama Y, Yoshitome M, Makino S, Kimura M, Inoko H: New polymorphic microsatellite markers in the human MHC class I region. Tissue Antigens 54;221-228, 1999 https://doi.org/10.1034/j.1399-0039.1999.540302.x
  3. Matsuzaka Y, Makino S, Nakajima K, Tomizawa M, Oka A, Kimura M, Bahram S, Tamiya G, Inoko H: New polymorphic microsatellite markers in the human MHC class II region. Tissue Antigens 56;492-500, 2000 https://doi.org/10.1034/j.1399-0039.2000.560602.x
  4. Matsuzaka Y, NMaakkainjioma KS, Tomizawa M, Oka A, Bahram S, Kulski J.K, Tamiya G, Inoko H: New polymorphic microsatellite markers in the human MHC class III region. Tissue Antigens 57;397-404, 2001 https://doi.org/10.1034/j.1399-0039.2001.057005397.x
  5. Foissac A, Fort M, Clayton J, Abbal M, Raffoux C, Moine A, Bensa JC, Bignon JD, Mercier P, Cambon-Thomsen A: Microsatellites in the HLA Region: HLA Prediction and Strategies for Bone Marrow Donor Registries. Transplantation Proceedings 33;491-492, 2001
  6. Malkki M, Single R, Carrington M, Thomson G, Petersdorf E: MHC rnicrosatellite diversity and linkage disequilibrium among common HLA-A, HLA-B, DRB1 haplotypes: implications for unrelated donor hematopoietic transplantation and disease association studies. Tissue Antigens 66;114-124, 2005 https://doi.org/10.1111/j.1399-0039.2005.00453.x
  7. Foissac A, Salhi M, Cambon-Thomsen A: Microsatellites in the HLA region: 1999 update. Tissue Antigens 55;477-509, 2000 https://doi.org/10.1034/j.1399-0039.2000.550601.x
  8. Cullen M, Malasky M, Harding A, Carrington M: High-density map of short tandem repeats across the human major histocompatibility complex. Immunogenetics 54;900-910, 2003
  9. Martin MP, Harding A, Chadwick R, Kronick M, Cullen M, Lin L, Mignot E, Carrington M: Characterization of 12 microsatellite loci of the human MHC in a panel of reference cell lines. Immunogenetics 47;131-138, 1998 https://doi.org/10.1007/s002510050338
  10. Gourraud PA, Mano S, Barnetche T, Carrington M, Inoko H, Cambon-Thomsen A: Integration of microsatellite characteristics in the MHC region: a literature and sequencebased analysis. Tissue Antigens 64;543-555, 2004 https://doi.org/10.1111/j.1399-0039.2004.00317.x
  11. Li S, Kawata H, Katsuyama Y, Ota M, Morishima Y, Mano S, Kulski JK, Naruse KT, Inoko H: Association of polymorphic MHC microsatellites with GVHD, survival, and leukemia relapse in unrelated hematopoietic stem cell transplant donor/recipient pairs matched at five HLA loci. Tissue Antigens 63;362-368, 2004 https://doi.org/10.1111/j.0001-2815.2004.00200.x
  12. Kim TG, Kim HY, Lee SH, Cho CS, Park SH, Choi HB, Han H, Kim DJ: Systemic lupus erythematosus with nephritis is strongly associated with the TNFB*2 homozygote in the Korean population. Hum Immunol 46;10-17, 1996 https://doi.org/10.1016/0198-8859(95)00170-0
  13. Kikuchi T, Naruse TK, Onizuka M, Li S, Kimura T, Oka A, Morishima Y, Kulski JK, Ichimiya S, Sato N, Inoko H: Mapping of susceptibility and protective loci for acute GVHD in unrelated HLA-matched bone marrow transplantation donors and recipients using 155 microsatellite markers on chromosome 22. Immunogenetics. 59;99-108, 2007 https://doi.org/10.1007/s00251-006-0186-2
  14. Weber JL, Kwitek AE, May PE, Zoghbi HY: Dinucleotide repeat polymorphism at the D6S105 locus. Nucleic Acids Res 25;968, 1991 https://doi.org/10.1093/nar/25.10.1991
  15. Jazwinska EC, Lee SC, Webb SI, Halliday JW, Powell LW: Localization of the hemochromatosis gene close to D6S105. Am J Hum Genet 53;347-352, 1993
  16. Blanco R, Suazo J, Santos JL, Paredes M, Sung H, Carreno H, Jara L: Association between 10 microsarellite markers and nonsyndromic cleft lip palate in the Chilean population. Cleft Palate Craniofac J 41;163-167, 2004 https://doi.org/10.1597/02-147
  17. Grubic Z, Stingl K, Zunec R, Car H, Cecuk-Jelicic E, Brkljacic-Kerhin V: Linkage disequilibria between human leucocyte antigen-B and closely linked microsatellites in the Croatian population. Tissue Antigens 69;86-94, 2007 https://doi.org/10.1111/j.1399-0039.2006.00731.x
  18. Hashimoto M, Nakamura N, Obayashi H, Kimura F, Moriwaki A, Hasegawa G, Shigeta H, Kitagawa Y, Nakano K, Kondo M, Ohta M, Nishimura M: Genetic contribution of the BAT2 gene microsatellite polymorphism to the age-at-onset of insulin-dependent diabetes mellitus. Hum Genet 105;197-199, 1999 https://doi.org/10.1007/s004390051089
  19. Kimura A, Ota M, Katsuyama Y, Ohbuchi N, Takahashi M, Kobayashi Y, Inoko H, Numano F: Mapping of the HLA-linked genes controlling the susceptibility to Takayasu's arteritis. International Journal of Cardiology 75;S105-S110, 2000 https://doi.org/10.1016/S0167-5273(00)00295-3
  20. Kim HK, Han H, Choi HB, Pyo CW, Kim CC, Kim TG: Distribution of seven polymorphic markers and haplotypes within the human TNF gene cluster in Koreans. Hum Immunol 61;1274-1280, 2000 https://doi.org/10.1016/S0198-8859(00)00224-X
  21. Macaubas C, Hallmayer J, Kalil J, Kimura A, Yasunaga S, Grumet FC, Mignot E: Extensive polymorphism of a (CA)n microsatellite located in the HLA-DQA1/DQBl class II region. Hum Immunol 42;209-220, 1995 https://doi.org/10.1016/0198-8859(94)00101-U
  22. Grubic Z, Zunec R, Crkvenac K, Cecuk-Jelicic E, Kastelan A: Distribution of alleles at DQCAR microsatellite locus in the Croatian population. Croat Med J 41;298-302, 2000
  23. Morishima Y, Sasazuki T, Inoko H, Juji T, Akaza T, Yamamoto K, Ishikawa Y, Kato S, Sao H, Sakamaki H, Kawa K, Hamajima N, Asano S, Kodera Y: The clinical significance of human leukocyte antigen (HLA) allele compatibility in patients receiving a marrow transplant from serologically HLA-A, HLA-B, and HLA-DR matched unrelated donors. Blood 99;4200-4206, 2002 https://doi.org/10.1182/blood.V99.11.4200
  24. Sasazuki T, Juji T, Morishima Y, Kinukawa N, Kashiwabara H, Inoko H, Yoshida T, Kimura A, Akaza T, Kamikawaji N, Kodera Y, Takaku F: Effect of matching of class I HLA alleles on Clinical outcome after transplantation of hematopoietic stem cells from an unrelated donor. N Engl J Med 339;1177-1185, 1998 https://doi.org/10.1056/NEJM199810223391701
  25. Oka A, Tamiya G, Tomizawa M, Ota M, Katsuyama Y, Makino S, Shiina T, Yoshitome M, Iizuka M, Sasao Y, Iwashita K, Kawakubo Y, Sugai J, Ozawa A, Ohkido M, Kimura M, Bahram S, Inoko H: Association analysis using refined microsatellite markers localizes a susceptibility locus for psoriasis vulgaris within a 111 kb segment telomeric to the HLA-C gene. Immunogenetics Hum Mol Genet 8;2165-2170, 1999 https://doi.org/10.1093/hmg/8.12.2165
  26. Carrington M, Wade J: Selection of transplant donors based on MHC microsatellite data. Hum Immunol 50;151-154, 1996 https://doi.org/10.1016/0198-8859(96)00118-8
  27. Foissac A, Fort ML, Giraldo P, Abbal M, Raffoux C, Cambon-Thomsen A: Microsatellites in the HLA region potential applications in bone marrow transplantation. Transplant Proc 29;2374-2375, 1997
  28. Hanifi Moghaddam P, Zwinderman A, Kazemi M, van der Voort Maarschalk M, Ruigrok M, Naipal A, van der Slik A, Oudshoorn M, Giphart MJ: D6STNFa microsatellite locus correlates with CTLp frequency in unrelated bone marrow donor-recipient pairs. Hum Immunol 59;295-301, 1998 https://doi.org/10.1016/S0198-8859(98)00022-6