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马来西亚基层医疗诊所中患痛风的马来族、华裔和印度裔患者的HLA - B*58:01等位基因流行率。

Prevalence of HLA-B*58:01 allele among Malay, Chinese and Indian ethnic patients with gout attending primary care clinics in Malaysia.

作者信息

Ng Wei Leik, Kee Boon Pin, Hussein Norita, Ng Chirk Jenn, Kuan Sheh Wen, Mohd Zaidan Fatimah Zahrah, Azmi Siti Umi Fairuz, Then Sue-Mian, Kwan Zhenli, Qureshi Nadeem, Lim Jing Ran, Wong Li Ying, Lee Yew Kong, Abdul Malik Tun Firzara, Gunasekaran Rajeswari, Low Dyoi-E

机构信息

Department of Primary Care Medicine, Faculty of Medicine, Universiti Malaya, Kuala Lumpur, Malaysia.

Department of Biomedical Science, Faculty of Medicine, Universiti Malaya, Kuala Lumpur, Malaysia.

出版信息

J Community Genet. 2025 Feb;16(1):37-45. doi: 10.1007/s12687-024-00753-4. Epub 2024 Nov 25.

Abstract

HLA-B58:01 allele is associated with allopurinol-induced severe cutaneous reaction (SCAR). Malaysia has a multiethnic population with limited data on the prevalence of HLA-B58:01 among patients with gout treated in primary care settings. This cross-sectional study aimed to determine the prevalence of HLA-B5801 in patients with gout from the Malay, Chinese and Indian ethnicities attending primary clinics in Malaysia.We collected blood samples from patients with gout attending three primary care clinics in Klang Valley, Malaysia, using convenience sampling. Genomic DNA samples were subjected to typing of HLA-B5801 by a multiplex probe-based assay in a real-time PCR system, validated by PCR-resequencing approach.547 patients (194 Malay, 266 Chinese and 87 Indian) were recruited. The overall prevalence of HLA-B58:01 was 16.8% (Chinese 21.8%, Indian 12.6% and Malay 11.9%). None of our 61 HLA-B58:01 carriers who ever used allopurinol developed SCAR.The overall prevalence of HLA-B58:01 allele in our patients with gout was high, particularly among the Chinese ethnicity (21.8%). None of our HLA-B58:01 positive patients treated with allopurinol reported allopurinol-induced SCAR. A more accurate predictive model for allopurinol-induced SCAR is needed.

摘要

HLA - B58:01等位基因与别嘌醇诱发的严重皮肤反应(SCAR)相关。马来西亚是一个多民族国家,在初级保健机构接受治疗的痛风患者中,关于HLA - B58:01患病率的数据有限。这项横断面研究旨在确定在马来西亚初级诊所就诊的马来族、华裔和印度裔痛风患者中HLA - B58:01的患病率。我们采用便利抽样的方法,从马来西亚巴生谷地区的三家初级保健诊所的痛风患者中采集血样。基因组DNA样本在实时PCR系统中通过基于多重探针的检测方法进行HLA - B58:01分型,并通过PCR重测序方法进行验证。共招募了547名患者(194名马来族、266名华裔和87名印度裔)。HLA - B58:01的总体患病率为16.8%(华裔为21.8%,印度裔为12.6%,马来族为11.9%)。我们61名曾使用过别嘌醇的HLA - B58:01携带者中,没有一人发生SCAR。我们的痛风患者中HLA - B58:01等位基因的总体患病率较高,尤其是在华裔中(21.8%)。我们接受别嘌醇治疗的HLA - B58:01阳性患者中,没有一人报告发生别嘌醇诱发的SCAR。需要一个更准确的别嘌醇诱发SCAR的预测模型。

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