The prevalence of polymorphisms of thiopurine s-methyltransferase gene In Iranian alopecia areata patients

Ali Dezhgir, Tayebe Talebzadeh, Iman Alsadat Hosseini, Donya Altafi, Hamed Hojatian, Rashed Mehrfard, Sahel Towfigh Rafiei, Marjan Moradi Fard, Zeinab Shabani, Morteza Taghizadeh, Massoud Houshmand, Soudeh Soleymani Mashhadi, Navid Rahimian, Arvin Haghighatfard and Soha Sadeghi

International Research Journal of Medicine and Medical Sciences
Published: August 3 2018
Volume 6, Issue 3
Pages 67-78


Azathioprine therapy was recently used to treat dermatologic conditions such as alopecia areata (AA). Previous reports showed that thiopurine s-methyltransferase (TPMT) activities in human red blood cell are associated with a polymorphism in this gene. Therefore, patients carrying mutant allele of TPMT may show severe myelosuppression when they are treated with standard doses of Azathioprine drugs. This study aimed to evaluate the TPMT gene amongst alopecia areata patients and healthy adult in Iranian populations. TPMT gene polymorphisms were investigated in 1285 Iranian healthy adult blood donors and 632 patients with Alopecia Areata Universalis (AU). Tetra Arms PCR, Real-Time PCR and Sequencing were used to evaluate the presence of allele-specific polymorphisms of TPMT gene (TPMT *2(c.238 GC,), TPMT *3A (c.460 GA and c.719 AG), TPMT *3B (c.460 GA), and TPMT *3C (c.719 AG). Results were shown that the TPMT*2 allele is associated with a low enzymatic activity that was detected in 22.51% (863 in 1917) of Iranian individuals. Heterozygous genotypes were in 827 (43.14%) subjects (232 AA and 595 healthy), and homozygous genotypes were in 18 (0.94%) individuals (3 AA and 15 healthy). The normal allele (wild-type) was found in 55.92% of the studied individuals (20.70% AA and 35.21% healthy). According to a higher frequency of TPMT polymorphism in Iranian population in comparison with other population, determination of TPMT genotype in may have the clinical benefit to thiopurine dosage selection and treat patients as well.

Keywords: Thiopurine s-methyltransferase (TPMT), alopecia areata (AA), rs1142345, rs1800460, rs1800462.

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