Prevalence of TPMT polymorphism in Indian patients requiring immunomodulator therapy and its clinical significance

Background Thiopurine methyltransferase (TPMT) enzyme plays a key role in the metabolism of azathioprine/6-mercaptopurine (6-MP). Mutations in the enzyme lead to generation of excess thioguanine, which causes suppression of various cell lineages, especially neutrophils. Data on the prevalence of TPM...

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Bibliographic Details
Published in:Indian journal of gastroenterology 2014, Vol.33 (1), p.41-45
Main Authors: Davavala, Sandeep Kirit, Desai, Devendra C., Abraham, Philip, Ashavaid, Tester, Joshi, Anand, Gupta, Tarun
Format: Article
Language:English
Subjects:
Adult
Azathioprine - adverse effects
Azathioprine - metabolism
Azathioprine - therapeutic use
Female
Gastroenterology
Gastrointestinal Diseases - drug therapy
Gastrointestinal Diseases - genetics
Hepatology
Heterozygote
Humans
Immunosuppressive Agents - adverse effects
Immunosuppressive Agents - metabolism
Immunosuppressive Agents - therapeutic use
India - epidemiology
Male
Medicine
Medicine & Public Health
Mercaptopurine - adverse effects
Mercaptopurine - metabolism
Mercaptopurine - therapeutic use
Methyltransferases - genetics
Methyltransferases - physiology
Middle Aged
Neutropenia - chemically induced
Neutropenia - epidemiology
Neutropenia - genetics
Original Article
Polymorphism, Genetic
Prevalence
Retrospective Studies
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Summary:Background Thiopurine methyltransferase (TPMT) enzyme plays a key role in the metabolism of azathioprine/6-mercaptopurine (6-MP). Mutations in the enzyme lead to generation of excess thioguanine, which causes suppression of various cell lineages, especially neutrophils. Data on the prevalence of TPMT polymorphism are available from Western and some Asian countries; such data from India are sparse. Aims The aim of this research is to study the prevalence of TPMT mutation in Indian patients requiring immunomodulator therapy and its relation to the development of neutropenia on azathioprine therapy. Methods In this retrospective study, data of all patients who underwent TPMT genotyping by PCR-RFLP and allele-specific PCR prior to immunomodulator therapy were analyzed. The frequency of on-treatment development of neutropenia (total neutrophil count
ISSN:0254-8860
0975-0711
DOI:10.1007/s12664-013-0374-6