Complete sequence-based screening of TPMT variants in the Korean population. Issue 3 (March 2015)

• Record Type: Journal Article
• Authors: Kim, Hyun-Young; Lee, Soo Hyun; Lee, Mi-Na; Kim, Jong-Won; Kim, Young-Ho; Kim, Mi Jin; Lee, Yoo Min; Kang, Ben; Choe, Yon Ho; Lee, Na Hee; Kim, Dong Hwan; Yoo, Keon Hee; Sung, Ki Woong; Lee, Soo-Youn; Koo, Hong Hoe
• Is Part Of: Pharmaocogenetics and genomics. Volume 25:Issue 3(2015:Mar.)
• Publication Date: 2015-03
• Subjects: Pharmacogenetics -- Periodicals; Pharmacogenomics -- Periodicals; Genetic toxicology -- Periodicals; Biomedical genetics -- Periodicals; 615.7
• DOI: 10.1097/FPC.0000000000000117
• Languages: English
• ISSNs: 1744-6872

Abstract

<abstract> <title> <x xml:space="preserve">Abstract</x> </title> <sec> <p>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 <italic>TPMT</italic> gene. To date, more than 35 <italic>TPMT</italic> variants are known to be associated with reduced enzyme activity, but most studies on the <italic>TPMT</italic> genotype have included only common nonfunctional variants, such as <italic>TPMT*2</italic> and <italic>TPMT*3</italic>. In this study, we carried out a complete sequencing analysis to screen all <italic>TPMT</italic> variants in Korean patients. A total of 900 Korean patients were genotyped for <italic>TPMT</italic> and 30 patients (3.3%) had the known <italic>TPMT</italic> variant alleles. <italic>TPMT*3C</italic> was found in 25 patients (2.8%): 24 patients with <italic>TPMT*1/*3</italic> and one with <italic>TPMT*3/*3</italic>. Rare <italic>TPMT</italic> variants including <italic>TPMT*6</italic>, <italic>TPMT*16</italic>, and <italic>TPMT*32</italic> were detected in five patients (0.6%) and a novel variant, <italic>TPMT*38</italic> (c.514T&gt;C, p.S172P), was identified in two patients. This is the first complete sequence-based screening study evaluating all <italic>TPMT</italic> variants in Asian populations.</p> </sec> </abstract>