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
Summary
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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