PMID- 30003355 OWN - NLM STAT- MEDLINE DCOM- 20190321 LR - 20190321 IS - 1613-2246 (Electronic) IS - 0021-5155 (Linking) VI - 62 IP - 5 DP - 2018 Sep TI - Frequencies of human leukocyte antigen alleles and haplotypes among Japanese patients with age-related macular degeneration. PG - 568-575 LID - 10.1007/s10384-018-0611-8 [doi] AB - PURPOSE: 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. METHODS: 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. RESULTS: 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. CONCLUSION: 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. FAU - Takagi, Seiji AU - Takagi S AUID- ORCID: 0000-0001-6267-1641 AD - Department of Ophthalmology, Kobe City Eye Hospital, 2-1-8, Minatojima-Minamimachi, Chuo-ku, Kobe, 650-0047, Japan. tigerseiji@gmail.com. AD - Department of Ophthalmology, Kobe City Medical Center General Hospital, 2-2 Minatojima-Minamimachi, Chuo-ku, Kobe, 650-0047, Japan. tigerseiji@gmail.com. AD - Department of Ophthalmology, Toho University Ohashi Medical Center, 2-6-17 Ohashi, Meguro-ku, Tokyo, 153-8515, Japan. tigerseiji@gmail.com. FAU - Mandai, Michiko AU - Mandai M AD - Department of Ophthalmology, Kobe City Eye Hospital, 2-1-8, Minatojima-Minamimachi, Chuo-ku, Kobe, 650-0047, Japan. AD - Department of Ophthalmology, Kobe City Medical Center General Hospital, 2-2 Minatojima-Minamimachi, Chuo-ku, Kobe, 650-0047, Japan. AD - Laboratory for Retinal Regeneration, RIKEN Center for Developmental Biology, 2-2-3 Minatojima-Minamimachi, Chuo-ku, Kobe, 650-0047, Japan. FAU - Hirami, Yasuhiko AU - Hirami Y AD - Department of Ophthalmology, Kobe City Eye Hospital, 2-1-8, Minatojima-Minamimachi, Chuo-ku, Kobe, 650-0047, Japan. AD - Department of Ophthalmology, Kobe City Medical Center General Hospital, 2-2 Minatojima-Minamimachi, Chuo-ku, Kobe, 650-0047, Japan. AD - Laboratory for Retinal Regeneration, RIKEN Center for Developmental Biology, 2-2-3 Minatojima-Minamimachi, Chuo-ku, Kobe, 650-0047, Japan. FAU - Sugita, Sunao AU - Sugita S AD - Department of Ophthalmology, Kobe City Eye Hospital, 2-1-8, Minatojima-Minamimachi, Chuo-ku, Kobe, 650-0047, Japan. AD - Department of Ophthalmology, Kobe City Medical Center General Hospital, 2-2 Minatojima-Minamimachi, Chuo-ku, Kobe, 650-0047, Japan. AD - Laboratory for Retinal Regeneration, RIKEN Center for Developmental Biology, 2-2-3 Minatojima-Minamimachi, Chuo-ku, Kobe, 650-0047, Japan. FAU - Takahashi, Masayo AU - Takahashi M AD - Department of Ophthalmology, Kobe City Eye Hospital, 2-1-8, Minatojima-Minamimachi, Chuo-ku, Kobe, 650-0047, Japan. AD - Department of Ophthalmology, Kobe City Medical Center General Hospital, 2-2 Minatojima-Minamimachi, Chuo-ku, Kobe, 650-0047, Japan. AD - Laboratory for Retinal Regeneration, RIKEN Center for Developmental Biology, 2-2-3 Minatojima-Minamimachi, Chuo-ku, Kobe, 650-0047, Japan. FAU - Kurimoto, Yasuo AU - Kurimoto Y AD - Department of Ophthalmology, Kobe City Eye Hospital, 2-1-8, Minatojima-Minamimachi, Chuo-ku, Kobe, 650-0047, Japan. AD - Department of Ophthalmology, Kobe City Medical Center General Hospital, 2-2 Minatojima-Minamimachi, Chuo-ku, Kobe, 650-0047, Japan. AD - Laboratory for Retinal Regeneration, RIKEN Center for Developmental Biology, 2-2-3 Minatojima-Minamimachi, Chuo-ku, Kobe, 650-0047, Japan. LA - eng PT - Journal Article PT - Observational Study DEP - 20180712 PL - Japan TA - Jpn J Ophthalmol JT - Japanese journal of ophthalmology JID - 0044652 RN - 0 (HLA Antigens) SB - IM MH - Aged MH - Alleles MH - Cross-Sectional Studies MH - Female MH - Gene Frequency MH - Genotype MH - HLA Antigens/*genetics MH - Haplotypes MH - Humans MH - Incidence MH - Japan/epidemiology MH - Male MH - Retinal Pigment Epithelium/*cytology MH - Stem Cell Transplantation/*methods MH - *Visual Acuity MH - Wet Macular Degeneration/epidemiology/*genetics/therapy OTO - NOTNLM OT - Age-related macular degeneration OT - Haplotype frequency OT - Human leukocyte antigen OT - Induced pluripotent stem cells OT - Japan EDAT- 2018/07/14 06:00 MHDA- 2019/03/22 06:00 CRDT- 2018/07/14 06:00 PHST- 2017/12/04 00:00 [received] PHST- 2018/06/06 00:00 [accepted] PHST- 2018/07/14 06:00 [pubmed] PHST- 2019/03/22 06:00 [medline] PHST- 2018/07/14 06:00 [entrez] AID - 10.1007/s10384-018-0611-8 [pii] AID - 10.1007/s10384-018-0611-8 [doi] PST - ppublish SO - Jpn J Ophthalmol. 2018 Sep;62(5):568-575. doi: 10.1007/s10384-018-0611-8. Epub 2018 Jul 12.