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

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 A24:02 (29.7%), B52:01 (15.5%), C12:02 (16.1%), DRB109:01 (19.1%), DQB106:01 (23.2%), and DPB1 05:01 (40.5%). There were no significant associations between the HLA alleles and AMD. The most common haplotype was A24:02-B52:01-C12:02-DRB115:02-DQB106:01-DPB109:01, 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.