Japanese Journal of Ophthalmology

, Volume 62, Issue 5, pp 568–575 | Cite as

Frequencies of human leukocyte antigen alleles and haplotypes among Japanese patients with age-related macular degeneration

  • Seiji TakagiEmail author
  • Michiko Mandai
  • Yasuhiko Hirami
  • Sunao Sugita
  • Masayo Takahashi
  • Yasuo Kurimoto
Clinical Investigation



Stem cell therapy is a potential treatment for retinal disorders. We are currently exploring treating HLA matched patients of age-related macular degeneration (AMD) by using allogenic retinal pigment epithelium cells derived from induced pluripotent stem cells (iPS-RPE) from human leukocyte antigen (HLA) homozygote donors. The purpose of this study was to investigate the frequency of HLA class I and II alleles and haplotypes in Japanese patients with AMD.

Study design

Cross-sectional observation clinical study.


A total of 138 consecutive patients diagnosed with neovascular AMD (mean age, 76.0 ± 7.8 years, 105 men) and 300 controls were included in the study. The frequencies of HLA-A, -B, -C, -DRB1, -DQB1, and -DPB1 alleles were determined using illumina MiSeq platform. Frequencies of HLA alleles at six loci in patients with AMD were compared with those of the controls.


The alleles with the highest prevalence at each locus were A*24:02 (29.7%), B*52:01 (15.5%), C*12:02 (16.1%), DRB1*09:01 (19.1%), DQB1*06:01 (23.2%), and DPB1* 05:01 (40.5%). There were no significant associations between the HLA alleles and AMD. The most common haplotype was A*24:02-B*52:01-C*12:02-DRB1*15:02-DQB1*06:01-DPB1*09:01, with a 9.8% genetic frequency among all haplotypes, detected in 18.8% of the patients.


The genotype of HLA in patients with AMD was not different from that in the Japanese control population. Thus, therapy with iPS-RPEof the most frequent HLA haplotype could be a feasible alternative for AMD in a wider population.


Age-related macular degeneration Haplotype frequency Human leukocyte antigen Japan Induced pluripotent stem cells 



This work was supported by the HLA Foundation laboratory. Although this study did not receive specific funding, we received normal data from the HLA Foundation laboratory. We thank them for their help in providing the data. We thank Dr Noriko Miyamoto and Dr Akihiro Nishida for their help in acquisition of informed consent. We also thank for professor. Goji Tomita for helpful advice. This paper received editorial support from Editage.

Conflicts of interest

S. Takagi, Grant (Alcon, AMO, HOYA, Senju), Lecture fee (Alcon); M. Mandai, Grant (Sumitomo Dainippon Pharma, Tomey), Consultant fees (Alcon, Bayer, Healios, Otsuka, Santen, Senju); Y. Hirami, Grant (Alcon, AMO, HOYA, Senju), Lecture fees (Alcon, Bayer, Santen); S. Sugita, None; M. Takahashi, Grant (Healios, Hitachi, Nichirei Biosciences, Nitta Biolab, Sagawa, Sanplatec, Santen, Shibuya, Sumitomo Dainippon Pharma, Tomey), Consultant fees (Alcon, Astellas, DAI-DAN, Eisai, Healios, Novaris, Sysmex, Takeda, Topcon, Toray); Y. Kurimoto, Grant (Alcon, HOYA, Santen, Senju), Consultant fees (Alcon, AMO, Bayer, Cannon, Kowa, Otsuka, Pfizer, Santen, Senju).


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Copyright information

© Japanese Ophthalmological Society 2018

Authors and Affiliations

  1. 1.Department of OphthalmologyKobe City Eye HospitalKobeJapan
  2. 2.Department of OphthalmologyKobe City Medical Center General HospitalKobeJapan
  3. 3.Department of OphthalmologyToho University Ohashi Medical CenterTokyoJapan
  4. 4.Laboratory for Retinal RegenerationRIKEN Center for Developmental BiologyKobeJapan

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