Genetic analysis of thiopurine methyltransferase polymorphism in a Japanese population

Thiopurine Methyltransferase Genotype and Phenotype Status in Japanese Patients with Systemic Lupus Erythematosus

“…The allele frequency of TPMT mutation in the SLE group was greater than that (1.1%) of the healthy control in this study and any other reported value in Japanese healthy subjects. [18][19][20] In the present study, mean value of TPMT activities in 51 subjects with TPMT*1/*1 (18.1Ϯ6.1 nmol/h/ml pRBC) was 40% higher than that of 4 subjects with TPMT*1/*3C (13.2Ϯ3.2 nmol/h/ml pRBC) (Fig. 1A).…”

Pyrosequencing of TPMT Alleles in a General Swedish Population and in Patients with Inflammatory Bowel Disease

“…These individuals were genotyped as either TPMT*1/*3A (n ϭ 12) or TPMT*1/*2 (n ϭ 1). Nine individuals (five healthy volunteers and four with IBD) had normal TPMT activity (Ͼ9.0U/mL of pRBCs; a previously established cutoff point distinguishing normal from intermediate TPMT activity; see Supplemental Data Table, individuals [22][23][24][25][26][27][28][29][30]. None of these individuals carried any of the investigated SNPs, and they all were therefore considered to be wild type at the TPMT locus.…”

Genotyping of Thiopurine Methyltransferase Using Pyrosequencing

“…At present, the two SNPs (719 AϾG 21,22) and 539 AϾT 26) ) have been reported in the Japanese population, and there was no report about 460 GϾA mutant. If the subject who had 460 GϾA heterozygous and 719 AϾG heterozygous is found, we should determine whether the subject is intermediate metabolizer (TPMT*1/*3A and *1/*3D) or poor metabolizer (TPMT*3B/*3C).…”

“…21,22) Additionally rare phenotype variants (TPMT*3B, *3D, *4, *5, *6, *7 and *8) and some intronic and silent mutations have been reported in Northern European, Korean, African-American and Caucasian populations. 9,11,12) There were no TPMT*2, *3A, *3B, *4, *5, *6, *7 and *8 variants detected in any of the Japanese samples analyzed in this study.…”