Clinical evaluation of a substitute of HLA-B*58:01 in different Chinese ethnic groups

Xinju Zhang; Lei Jin; Zhiyuan Wu; Weizhe Ma; Yuming Chen; Gang Chen; Lixin Wang; Ming Guan

doi:10.1590/1678-4685-GMB-2017-0258

Clinical evaluation of a substitute of HLA-B*58:01 in different Chinese ethnic groups

Genet Mol Biol. 2018;41(3):578-584. doi: 10.1590/1678-4685-GMB-2017-0258. Epub 2018 Aug 2.

Authors

Xinju Zhang¹, Lei Jin², Zhiyuan Wu³, Weizhe Ma¹, Yuming Chen⁴, Gang Chen⁵, Lixin Wang^{6

7

8}, Ming Guan^{1

3

4}

Affiliations

¹ Department of Central Laboratory, Huashan Hospital, Fudan University, Shanghai, China.
² College of Allied Health Professions, Shanghai University of Medicine and Health Sciences, Shanghai, China.
³ Department of Laboratory Medicine, North Huashan Hospital, Fudan University, Shanghai, China.
⁴ Department of Laboratory Medicine, Huashan Hospital, Fudan University, Shanghai, China.
⁵ Department of Geriatrics, Huashan Hospital, Fudan University, Shanghai, China.
⁶ The Medical Laboratory Center of General Hospital of Ningxia Medical University, Yinchuan, China.
⁷ The Medical Laboratory of Cardio-Cerebral Vascular Disease Hospital of General Hospital of Ningxia Medical University, Yinchuan, China.
⁸ Ningxia Key Laboratory of Clinical Pathogens, Yinchuan, China.

Abstract

The goal of this research was to investigate the linkage disequilibrium between rs9263726 and HLA-B*58:01 in different Chinese ethnic groups (Han, Tibet, and Hui) and to study the feasibility of rs9263726 replacing HLA-B*58:01 as an efficient indicator of potential allopurinol hypersensitivity syndrome. In this study, rs9263726 and HLA-B*58:01 were detected in all samples. For samples of individuals whose rs9263726 genotypes were not consistent with HLA-B*58:01, we did high-resolution typing of HLA-B gene to further confirm the correlation of rs9263726 genotype and special HLA-B alleles. We confirmed that the linkage disequilibrium between rs9263726 and HLA-B*58:01 was more significant in the Han ethnic group (r2=0.886, D'=1.0) than in the Tibet and Hui ethnic groups (for Tibetan, r2=0.606, D'=0.866; for Hui, r2=0.622, D'=0.924). For Han Chinese, samples with the GG genotype of rs9263726 did not carry HLA-B*58:01, while AA genotype samples were homozygous carriers of HLA-B*58:01. However, GA genotype samples of rs9263726 required a more sophisticated HLA-B genotyping assay before it was possible to identify whether they were HLA-B*58:01 carriers or not. For Tibetan and Hui, the linkage disequilibrium between rs9263726 and HLA-B*58:01 was not significant. Therefore, rs9263726 cannot replace HLA-B*58:01 in these two groups.