PMID- 33603436
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20220420
IS  - 1178-704X (Print)
IS  - 1178-704X (Electronic)
IS  - 1178-704X (Linking)
VI  - 14
DP  - 2021
TI  - A Novel Allele-Specific PCR Protocol for the Detection of the HLA-C*03:02 Allele, 
      a Pharmacogenetic Marker, in Vietnamese Kinh People.
PG  - 27-35
LID - 10.2147/TACG.S278652 [doi]
AB  - BACKGROUND: Allopurinol, a common anti-hyperuricemia drug, is well known as an 
      inducer of severe cutaneous adverse drug reactions (SCARs). One of the most 
      well-defined risk factors of allopurinol-induced SCARs is the presence of 
      polymorphic alleles of human leukocyte antigen (HLA) genes, such as HLA-B*58:01 
      and HLA-C*03:02 alleles. There is no commercial test or published in-house 
      protocol for the specific detection of the HLA-C*03:02 allele. In this article, 
      we established for the first time a simple allele-specific (AS) PCR method to 
      identify HLA-C*03:02 allele carriers, and at the same time, determine their 
      zygosities. METHODS: A two-step AS-PCR protocol, using four primer sets, was 
      designed to specifically amplify and differentiate the HLA-C*03:02 allele from 17 
      other HLA-C alleles found in Vietnamese people. The protocol was validated with 
      PCR-sequencing-based typing (SBT) of 100 samples of unknown genotypes. RESULTS: 
      The PCR protocol can detect the HLA-C*03:02 allele and determine the zygosity. 
      The results of this protocol were highly consistent with those of the SBT (k = 
      0.98, p < 0.001). Regarding the specific detection of the HLA-C*03:02 allele, the 
      PCR protocol had a sensitivity of 100% (95% CI: 91.61-100%) and specificity of 
      98.3% (95% CI: 90.9-99.7%). The protocol was used to determine the distribution 
      of the HLA-C*03:02 allele in 810 unrelated Vietnamese Kinh people, 14.2% of which 
      were HLA-C*03:02 carriers, the allele frequency was 7.5%. CONCLUSION: A novel 
      AS-PCR protocol with a sensitivity of 100% for the detection of the HLA-C*03:02 
      allele was established. The protocol can be used for personalized treatment with 
      allopurinol in order to minimize the risk of SCARs in Vietnamese people as well 
      as in other Asian populations with similar genetic characteristics.
CI  - (c) 2021 Pham et al.
FAU - Pham, Tran Thu Ha
AU  - Pham TTH
AUID- ORCID: 0000-0002-4972-614X
AD  - Hanoi University of Pharmacy, Hanoi, Vietnam.
FAU - Tran, Quang Binh
AU  - Tran QB
AUID- ORCID: 0000-0003-3520-2131
AD  - National Institute of Nutrition, Hanoi, Vietnam.
FAU - Sukasem, Chonlaphat
AU  - Sukasem C
AD  - Division of Pharmacogenomics and Personalized Medicine, Faculty of Medicine, 
      Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
AD  - Laboratory for Pharmacogenomics, Somdech Phra Debaratana Medical Center (SDMC), 
      Ramathibodi Hospital, Bangkok, Thailand.
AD  - The Thai Severe Cutaneous Adverse Drug Reaction (THAI-SCAR) Research Group, 
      Bangkok, Thailand.
FAU - Nguyen, Van Dinh
AU  - Nguyen VD
AD  - Respiratory, Allergy and Clinical Immunology Unit, Internal Medicine Department, 
      Vinmec Times City International Hospital, Vinmec Healthcare System, Hanoi, 
      Vietnam.
AD  - College of Health Sciences, VinUniversity, Hanoi, Vietnam.
FAU - Chu, Chi Hieu
AU  - Chu CH
AUID- ORCID: 0000-0001-9917-3064
AD  - Center of Allergology and Clinical Immunology, Bach Mai Hospital, Hanoi, Vietnam.
FAU - Do, Thi Quynh Nga
AU  - Do TQN
AD  - National Institute of Hygiene and Epidemiology, Hanoi, Vietnam.
FAU - Tran, Ngoc Phuong Mai
AU  - Tran NPM
AUID- ORCID: 0000-0002-9671-6235
AD  - National Institute of Hygiene and Epidemiology, Hanoi, Vietnam.
FAU - Phung, Thanh Huong
AU  - Phung TH
AUID- ORCID: 0000-0002-7669-5983
AD  - Hanoi University of Pharmacy, Hanoi, Vietnam.
LA  - eng
PT  - Journal Article
DEP - 20210209
PL  - New Zealand
TA  - Appl Clin Genet
JT  - The application of clinical genetics
JID - 101579789
PMC - PMC7881795
OTO - NOTNLM
OT  - AS-PCR
OT  - HLA genotyping
OT  - HLA-C*03:02
OT  - allopurinol
OT  - severe cutaneous adverse reactions
COIS- The authors report no conflicts of interest for this work.
EDAT- 2021/02/20 06:00
MHDA- 2021/02/20 06:01
PMCR- 2021/02/09
CRDT- 2021/02/19 06:04
PHST- 2020/11/13 00:00 [received]
PHST- 2021/01/18 00:00 [accepted]
PHST- 2021/02/19 06:04 [entrez]
PHST- 2021/02/20 06:00 [pubmed]
PHST- 2021/02/20 06:01 [medline]
PHST- 2021/02/09 00:00 [pmc-release]
AID - 278652 [pii]
AID - 10.2147/TACG.S278652 [doi]
PST - epublish
SO  - Appl Clin Genet. 2021 Feb 9;14:27-35. doi: 10.2147/TACG.S278652. eCollection 
      2021.