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Association of GSTM1 and GSTT1 deletion polymorphisms with Pakistani aplastic anemia patients and controls and meta-analysis

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Abstract

Interaction of environmental and genetic elements plays a vital role in the pathogenesis of aplastic anemia (AA). Glutathione S-transferase (GST) is a key detoxifying enzyme. Absence or low levels of this enzyme may genetically predispose individuals to AA. GST genes GSTM1 and GSTT1 are polymorphic. The aim of this study was to screen Pakistani AA patients and controls for GSTM1 deletion GSTM0 and GSTT1 deletion GSTT0 and perform meta-analysis using our data and other published data regarding these polymorphisms. DNA samples from 137 patients and 220 controls were screened using multiplex polymerase chain reaction. GSTM0 emerged as susceptible genotype for AA in Pakistan with a percentage frequency of 49.6 % as compared to 30 % in controls with odds ratio (OR) of 2.25, 95 % confidence interval (CI) of 1.4–3.5 and corrected p = 0.006. The meta-analysis showed a significant association between the null genotype GSTT0 and AA in overall analysis with OR of 1.47, 95 % CI of 1.01–2.13 and p value of 0.04 in random effects model. Studies like these could play a role in understanding the underlying path in AA pathogenesis and therefore can help in designing means for prevention, diagnose and treatment.

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Acknowledgment

This study was funded by the Institute of Biomedical and Genetic Engineering (IBGE). The authors acknowledge the support of Dr. Mehreen Ali, Dr. Nigat Shabaz, Dr. Kamran Mehmood and Dr. Tariq Gafoor in sample collection, Miss Rabia Qaiser, Mr Husnain Haider and Mr. Jamil Tareen for their technical assistance and the patients and controls for their cooperation and blood samples.

Conflict of interest

The authors declare that they have no conflict of interest.

Authors’ contribution

S.R., N.S., S.M. and S.S. contributed in experimental design and practical work, P.A., T.M.S. and Q.N. were involved in clinical diagnosis of patients and helped in sample collections. A.M. performed the meta-analysis. Paper writing and statistical work was done by S.R.

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Authors and Affiliations

  1. Institute of Biomedical and Genetic Engineering Islamabad, G9/1 Mauve Area, Islamabad, 44000, Pakistan

    Sadia Rehman, Nusrat Saba, Saeeda Munir, Sumaira Sajjad & Atika Mansoor

  2. Armed Forces Institute of Bone Marrow Transplantation Centre, Rawalpindi, Pakistan

    Parvez Ahmed, Tariq Mehmood Satti & Qamar-un-Nisa Chaudary

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  1. Sadia Rehman
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  2. Parvez Ahmed
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  3. Nusrat Saba
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  4. Saeeda Munir
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  6. Tariq Mehmood Satti
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  7. Qamar-un-Nisa Chaudary
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  8. Atika Mansoor
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Correspondence to Sadia Rehman.

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Rehman, S., Ahmed, P., Saba, N. et al. Association of GSTM1 and GSTT1 deletion polymorphisms with Pakistani aplastic anemia patients and controls and meta-analysis. Ann Hematol 94, 1965–1971 (2015). https://doi.org/10.1007/s00277-015-2482-0

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  • DOI: https://doi.org/10.1007/s00277-015-2482-0

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