Explanation

Depending on ethnicity, there are large biases in HLA allele frequencies. This bias is also evolutionarily preserved in HLA Haplotypes due to linkage disequilibrium. While there has until now been some level of data relating to HLA of Japanese, we seldom see analysis or large scale data showing frequencies between A-locus and DP-locus. The data introduced on this website includes the analysis of HLA data that includes haplotypes found in Japanese, which we hope will contribute to research of the relationships of genetic disorders and medical transplants, and human genetics.

Population Selection

  • Within the requests made to our laboratory, we use those samples which have been permitted for use in research by Japanese families.
  • Within the haplotype data permitted from each family’s genes, basic data is chosen that determines at least haplotype HLA-A,B,DRB1.
    From this data, allele frequencies and serological antigen frequencies are calculated.
    (A maximum of 4 alleles / haplotypes can be determined for each family group.)

Materials and Methods

Subject Content
Time period Jan.2005~Nov.2020
The numbers of families 12,635 families
HLA typing PCR-Luminex method
Statistics a direct counting method
※Serological types are converted from alleles based on definitions by the WHO in the HLA dictionary.
Definitions from experts are employed for serological antigens that are not defined by the WHO.
Analysis of linkage disequilibrium LD value (linkage disequilibrium value) and RD value (relative linkage disequilibrium value)

Results

The number of families and haplotypes are shown below.

The number of loci Set of haplotypes Families The number of haplotypes
2 A-B 12,635 40,902
A-C 8,920 28,954
C-B 8,920 28,954
B-DRB1 12,635 40,902
DRB1-DQB1 717 2,992
DRB1-DPB1 710 2,966
DQA1-DQB1 768 3,072
DQB1-DPB1 704 2,938
DPA1-DPB1 768 3,072
3 A-C-B 8,920 28,954
A-B-DRB1 12,635 40,902
B-DRB1-DQB1 717 2,992
DRB1-DQB1-DPB1 704 2,938
4 A-C-B-DRB1 8,920 28,954
A-B-DRB1-DQB1 717 2,992
DQA1-DQB1-DPA1-DPB1 768 3,072
5 A-C-B-DRB1-DQB1 717 2,992
A-C-B-DRB1-DPB1 710 2,966
DRB1-DQA1-DQB1-DPA1-DPB1 768 3,072
6 A-C-B-DRB1-DQB1-DPB1 704 2,938
8 A-C-B-DRB1-DQA1-DQB1-DPA1-DPB1 768 3,072