Secondary Logo

Journal Logo

Institutional members access full text with Ovid®

Complete sequence-based screening of TPMT variants in the Korean population

Kim, Hyun-Younga,*; Lee, Soo Hyunb,*; Lee, Mi-Naa; Kim, Jong-Wona; Kim, Young-Hoc; Kim, Mi Jinb; Lee, Yoo Minb; Kang, Benb; Choe, Yon Hob; Lee, Na Heeb; Kim, Dong Hwanb; Yoo, Keon Heeb; Sung, Ki Woongb; Lee, Soo-Youna,d; Koo, Hong Hoeb

Pharmacogenetics and Genomics: March 2015 - Volume 25 - Issue 3 - p 143–146
doi: 10.1097/FPC.0000000000000117
SHORT COMMUNICATION
Buy
SDC

Thiopurine S-methyltransferase (TPMT) is a cytoplasmic enzyme involved in the metabolism of thiopurine drugs and its activity is largely influenced by polymorphisms of the TPMT gene. To date, more than 35 TPMT variants are known to be associated with reduced enzyme activity, but most studies on the TPMT genotype have included only common nonfunctional variants, such as TPMT*2 and TPMT*3. In this study, we carried out a complete sequencing analysis to screen all TPMT variants in Korean patients. A total of 900 Korean patients were genotyped for TPMT and 30 patients (3.3%) had the known TPMT variant alleles. TPMT*3C was found in 25 patients (2.8%): 24 patients with TPMT*1/*3 and one with TPMT*3/*3. Rare TPMT variants including TPMT*6, TPMT*16, and TPMT*32 were detected in five patients (0.6%) and a novel variant, TPMT*38 (c.514T>C, p.S172P), was identified in two patients. This is the first complete sequence-based screening study evaluating all TPMT variants in Asian populations.

Supplemental Digital Content is available in the text.

Departments of aLaboratory Medicine and Genetics

bPediatrics

cInternal Medicine

dClinical Pharmacology and Therapeutics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea

* Hyun-Young Kim and Soo Hyun Lee contributed equally to the writing of this article.

Supplemental digital content is available for this article. Direct URL citations appear in the printed text and are provided in the HTML and PDF versions of this article on the journal's website (www.pharmacogeneticsandgenomics.com).

Correspondence to Soo-Youn Lee, MD, PhD, Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul 135-710, Korea Tel: +82 2 3410 1834; fax: +82 2 3410 2719; e-mail: suddenbz@skku.eduorCorrespondence to Hong Hoe Koo, MD, PhD, Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul 135-710, Korea Tel: +82 2 3410 3524; fax: +82 2 3410 0043; e-mail: hhkoo@skku.edu

Received July 27, 2014

Accepted December 1, 2014

Copyright © 2015 Wolters Kluwer Health, Inc. All rights reserved.