High-Resolution Analyses of Human Leukocyte Antigens Allele and Haplotype Frequencies Based on 169,995 Volunteers from the China Bone Marrow Donor Registry Program

作者：X.‐Y. Zhou, Faming Zhu, Jianping Li, Wei Mao, De-Mei Zhang, Mengli Liu, Ailian Hei, Da‐Peng Dai, Ping Jiang, Xiaoyan Shan, Bowei Zhang, Chuanfu Zhu, Jie Shen, Zhi-Hui Deng, Zheng-Lei Wang, Weijian Yu, Qiang Chen, Yan-Hui Qiao, Xiangming Zhu, Rong Lv, Guoying Li, Guoliang Li, Heng-Cong Li, Xu Zhang, Bin Pei, Li-xin Jiao, Gang Shen, Ying Liu, Zhihui Feng, Yuping Su, Zhaoxia Xu, Wen-ying Di, Y. Q. Jiang, Hong-Lei Fu, Xiangjun Liu, Xiang Liu, Meizhen Zhou, Dan Du, Qi Liu, Ying Han, Zhixin Zhang, Jianping Cai · 发表于：PLoS ONE · 年份：2015 · DOI：10.1371/journal.pone.0139485 · 被引用次数：97 · 研究领域：T-cell and B-cell Immunology、Hematopoietic Stem Cell Transplantation、Immune Cell Function and Interaction

Allogeneic hematopoietic stem cell transplantation is a widely used and effective therapy for hematopoietic malignant diseases and numerous other disorders. High-resolution human leukocyte antigen (HLA) haplotype frequency distributions not only facilitate individual donor searches but also determine the probability with which a particular patient can find HLA-matched donors in a registry. The frequencies of the HLA-A, -B, -C, -DRB1, and -DQB1 alleles and haplotypes were estimated among 169,995 Chinese volunteers using the sequencing-based typing (SBT) method. Totals of 191 HLA-A, 244 HLA-B, 146 HLA-C, 143 HLA-DRB1 and 47 HLA-DQB1 alleles were observed, which accounted for 6.98%, 7.06%, 6.46%, 9.11% and 7.91%, respectively, of the alleles in each locus in the world (IMGT 3.16 Release, Apr. 2014). Among the 100 most common haplotypes from the 169,995 individuals, nine distinct haplotypes displayed significant regionally specific distributions. Among these, three were predominant in the South China region (i.e., the 20th, 31st, and 81sthaplotypes), another three were predominant in the Southwest China region (i.e., the 68th, 79th, and 95th haplotypes), one was predominant in the South and Southwest China regions (the 18th haplotype), one was relatively common in the Northeast and North China regions (the 94th haplotype), and one was common in the Northeast, North and Northwest China (the 40th haplotype). In conclusion, this is the first to analyze high-resolution HLA diversitie...