Abstract

BackgroundEpilepsy is one of the most common chronic disabling neurologic diseases. The purpose of our study was to investigate whether there is an association between t-PA (tissue plasminogen activator, rs2020918 and rs4646972), PAI-1 (plasminogen activator inhibitor 1, rs1799768) polymorphisms and susceptibility to temporal lobe epilepsy (TLE) in Chinese Han population.MethodOne hundred and twenty-one cases of patients who were diagnosed as TLE and 146 normal controls were enrolled and the genotypes of t-PA and PAI-1 were detected by polymerase chain reaction-ligase detection reaction (PCR-LDR) method after the genomic DNA being extracted from peripheral blood.ResultThere were significant differences for the genotypic frequencies at the two polymorphic sites in t-PA gene between TLE patients and controls (P = 0.019; P = 0.001). Furthermore, the frequency of rs2020918 (C > T) with T (CT + TT) and rs4646972 (311 bp insertion/−) with 311 bp deletion (311 bp/− + −/−) was significantly higher among TLE patients relative to controls respectively (P = 0.006; P = 0.001). However, no significant difference in genotypic and allelic frequency was found at the polymorphic site in PAI-1 gene between TLE patients and controls (P = 0.735).ConclusionWe reported for the first time to our knowledge the significant role of the two SNPs in t-PA gene (rs2020918 and rs4646972) in developing susceptibility to TLE in Chinese Han population.

Highlights

  • Epilepsy is one of the most common chronic disabling neurologic diseases

  • We reported for the first time to our knowledge the significant role of the two SNPs in tissue plasminogen activator (t-PA) gene in developing susceptibility to temporal lobe epilepsy (TLE) in Chinese Han population

  • Based on the above background, we aimed to investigate the association between t-PA, p-value inhibitor type-1 (PAI-1) SNPs and susceptibility to TLE in Chinese Han population

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Summary

Introduction

The purpose of our study was to investigate whether there is an association between t-PA (tissue plasminogen activator, rs2020918 and rs4646972), PAI-1 (plasminogen activator inhibitor 1, rs1799768) polymorphisms and susceptibility to temporal lobe epilepsy (TLE) in Chinese Han population. Emerging evidence suggests that several genetic defects in Interleukin-1β (IL-1β) [5], Interleukin − 1 receptor antibody (IL-1 RA) [6], In addition to the well-known ion channels and signaling pathways involved in TLE etiology, tissue plasminogen activator (t-PA) is responsible for the activation of plasminogen to plasmin, which degrades extracellular matrix (ECM) components, promoting synaptic plasticity and influencing neurite sprouting and extension [11]. Abnormalities including the nature and quantity in t-PA may be involved in the synaptic plasticity alterations and abnormal neurite extension, leading to the susceptibility of epilepsy. Studies have shown that t-PA is highly enriched in all

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