title: Complete sequence-based screening of TPMT variants in the Korean population.
abstract: 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.
authors.affiliation: Departments of aLaboratory Medicine and Genetics bPediatrics cInternal Medicine dClinical Pharmacology and Therapeutics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
authors.forename: Hyun-Young
authors.initials: HY
authors.lastname: Kim
authors.forename: Soo Hyun
authors.initials: SH
authors.lastname: Lee
authors.forename: Mi-Na
authors.initials: MN
authors.lastname: Lee
authors.forename: Jong-Won
authors.initials: JW
authors.lastname: Kim
authors.forename: Young-Ho
authors.initials: YH
authors.lastname: Kim
authors.forename: Mi Jin
authors.initials: MJ
authors.lastname: Kim
authors.forename: Yoo Min
authors.initials: YM
authors.lastname: Lee
authors.forename: Ben
authors.initials: B
authors.lastname: Kang
authors.forename: Yon Ho
authors.initials: YH
authors.lastname: Choe
authors.forename: Na Hee
authors.initials: NH
authors.lastname: Lee
authors.forename: Dong Hwan
authors.initials: DH
authors.lastname: Kim
authors.forename: Keon Hee
authors.initials: KH
authors.lastname: Yoo
authors.forename: Ki Woong
authors.initials: KW
authors.lastname: Sung
authors.forename: Soo-Youn
authors.initials: SY
authors.lastname: Lee
authors.forename: Hong Hoe
authors.initials: HH
authors.lastname: Koo
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D044466:Asian People / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008780:Methyltransferases / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D056910:Republic of Korea; D017422:Sequence Analysis, DNA / Q000379:methods*; D055815:Young Adult
chemical_list: D008780:Methyltransferases; C022745:thiopurine methyltransferase