Yüksek LisansAçık Erişim

Investigation of the association between TRMP7 gene polymorphisms and Behçet's disease

2012
1 görüntülenme
0 i̇ndirme
Danışman: Prof. Dr. A. Tuncay Demiryürek

Özet (EN)

Transient Receptor Potential Cation Channel, Subfamily M, Member 7 (transient receptor potential melastatin 7, TRPM7) is a ubiquitously expressed member of the TRP family of ion channels, and is permeable to magnesium, calcium and divalent trace metal ions. Magnesium deficiency and altered TRPM7 expression/activity may contribute to endothelial dysfunction, vascular reactivity, proliferation, inflammation, and fibrosis which are also important factors in Behçet?s disease. The aim of this study was to investigate a possible association between TRPM7 gene polymorphisms and Behçet?s patients in a Turkish population.A total of 121 patients with Behçet?s disease and 175 healthy controls with similar age and sex were included to this study. Genomic DNA from the participants was analyzed by a BioMark 96.96 dynamic array system. For calculation of the significance of differences in genotype and allele frequencies, the chi-square test (with Yates? correction) or Fisher?s exact test was used.The distribution of genotype and allele frequencies of the TRPM7 gene rs55924090 (Ile459Thr) in patients Behçet?s disease were significantly different from controls; AA genotype 96.8% vs. 65.4%; AG genotype 0.0% vs. 33.8%; and GG genotype 3.2% vs. 0.8%; A allele 96.8% vs. 82.3%; and G allele 3.2% vs. 17.7% (p<0.0001). There was also an increase in C allele (16.5% in patients vs. 9.1% in controls) and decrease in G allele frequencies (83.5% in patients vs. 90.9% in control, p = 0.0101) of the TRPM7 gene rs34181677 (Thr201Ser) polymorphism. However, no marked association was found between TRPM7 gene rs62021060 polymorphism and Behçet?s disease. There was no polymorphism related to rs77165588 in this study.In conclusion, to the best of our knowledge, the present case-control study is the first to examine the potential involvement of TRPM7 gene variations in the risk of incident Behçet?s disease. Our data showed that genetic polymorphisms in TRPM7 gene may modify individual susceptibility to Behçet?s disease in the Turkish population. This study also provided a new gene region for the pathogenesis of BD.

Yazar

Hasari Pulat

Bu Yayına Nasıl Atıf Yapılır

Hasari Pulat (Master Thesis). Investigation of the association between TRMP7 gene polymorphisms and Behçet's disease, 2012, Gaziantep University.

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