@Article{Genc2012,
journal="Advances in Dermatology and Allergology/Postępy Dermatologii i Alergologii",
issn="1642-395X",
volume="29",
number="1",
year="2012",
title="Original paper
Thiopurine S-methyltransferase gene polymorphism in pemphigus vulgaris",
abstract="  Introduction  : Thiopurine S-methyltransferase (TPMT) genotypes or phenotypes are important as a predictive factor for thiopurine-induced toxicity. Individuals who are TPMT deficient or have intermediate TPMT activity are at risk of developing myelosuppression and life-threatening leucopenia when treated with standard doses of thiopurines; thus, pretreatment identification of these individuals is very important.      Aim:   The aim of this study was to analyze the TPMT gene polymorphisms in pemphigus vulgaris patients who were treated with azathioprine.      Material and methods  : Fifty-four patients with pemphigus vulgaris were analyzed and treated with azathioprine. The TPMT genotyping of these patients was carried out by an allele-specific PCR, PCR-restriction fragment length polymorphism (RFLP) assay and DNA sequencing.      Results  : The distribution of TPMT genotypes was 96.7% as wild-type TPMT*1/TPMT*1, 1.85% as heterozygous TPMT*1/TPMT*3A, and 1.85% as heterozygous TPMT*1/TPMT*2. Fifty-two samples without carrier mutant alleles, described as TPMT*1, had no toxicity when treated with a standard dosage of azathioprine. However, the patient who was characterized as heterozygous TPMT*3A developed severe myelosuppression after the standard doses of azathioprine. The second patient characterized as heterozygous TPMT*2 was then treated with methylprednisolone without any adverse effects.      Conclusions  : These data indicate that TPMT gene polymorphism detection might be important in pemphigus vulgaris before the patients are treated with azathioprine.",
author="Genc, Ahmet
and Gunasti, Suhan
and Tuli, Abdullah
and Curuk, M. Akif
and Uzun, Soner",
pages="25--29",
url="https://www.termedia.pl/Original-paper-r-nThiopurine-S-methyltransferase-gene-polymorphism-in-pemphigus-vulgaris,7,18141,1,1.html"
}