Role of TNF −308 G/A, TNFβ +252 A/G and IL10 −592 C/A and −1082 G/A SNPs in pathogenesis of Immune Thrombocytopenia Purpura in population of Gujarat, India
| Autor: | Mitesh Dwivedi, Mala Singh, Mohmmad Shoab Mansuri, Bhavya N. Barot, Jaymesh Thadani, Sunita P. Salunke, Rasheedunnisa Begum, Seema Bhatwadekar |
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| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Autoimmune disease Candidate gene education.field_of_study business.industry Population Single-nucleotide polymorphism Disease medicine.disease Thrombocytopenic purpura Pathogenesis 03 medical and health sciences 030104 developmental biology 0302 clinical medicine immune system diseases hemic and lymphatic diseases 030220 oncology & carcinogenesis Immunology Genotype Genetics medicine education business |
| Zdroj: | Gene Reports. 12:304-309 |
| ISSN: | 2452-0144 |
| DOI: | 10.1016/j.genrep.2018.07.001 |
| Popis: | Immune Thrombocytopenic Purpura (ITP) is an autoimmune disease, also known as Idiopathic Thrombocytopenia Purpura is characterized by the presence of antibodies against self-platelets. The etiology of ITP remains unclear, but it is generally accepted that both environmental and genetic factors and probably also a synergistic relationship between these factors, play important roles in the development of the disease. The etiological data for Indian population is insufficient. Several reports have suggested an association of cytokine polymorphisms with ITP, especially in occurrence and progression of acute ITP to chronic ITP disease. We therefore investigated association of candidate gene viz. TNFA (−308G/A), TNFB (+252A/G) and IL10 (−592C/A; −1082G/A) polymorphisms with Immune Thrombocytopenia Purpura in Population from Gujarat state of India. To investigate this, total 154 subjects (103 control and 51 ITP patients) were selected irrespective of sex. DNA was extracted and PCR-RFLP analysis was performed to assess the association of the above mentioned SNPs in patients 51 with respect to 103 controls. Results revealed that SNP of TNFA (−308) GA genotype was significantly higher in ITP patients (p Overall, our study suggests that the GA/AA genotype of the TNFA −308G/A and IL-10 −1082 polymorphism may be a significant genetic risk factor for the pathogenesis of ITP. Moreover, TNFA and IL-10 single nucleotide polymorphisms (SNPs) are known to be associated with altered expression of these proteins which may lead to dysregulation in downstream pathways of inflammation, thereby further strengthening the possibility, of role of inflammatory pathway's components in the development of ITP. |
| Databáze: | OpenAIRE |
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