Association between ELP4 rs986527 polymorphism and the occurrence and development of intracranial arachnoid cyst

Abstract

ObjectiveThe association between ELP4 rs986527 polymorphism and the occurrence and development of intracranial arachnoid cyst was studied in this paper.MethodsEighty‐five patients diagnosed with intracranial arachnoid cysts by cerebral computed tomography scan were selected. Sixty‐three healthy volunteers for medical examination in hospitals served as controls. The cognition, depressive symptoms, and the likelihood of headache, dizziness, head trauma history, dementia, depression, and epilepsy were assessed. ELP4 genotypes and its allele frequency were determined by PCR, endonuclease restriction analysis, and gel electrophoresis.ResultsELP4 rs986527 had three genotypes: TT, TC, and CC. The intracranial arachnoid cyst group showed no statistically significant difference in genotype frequencies compared with healthy controls. There was no significant correlation between ELP4 rs986527 polymorphism and location of intracranial arachnoid cyst. TC and C genotype frequencies were associated with a higher incidence of clinical symptoms than TT genotype frequencies, and C allele frequencies were associated with a significantly higher incidence of clinical symptoms compared with T allele frequencies. There was no significant difference in TNF‐α and IL‐1β levels between TT/TC/CC genotypes before treatment. After treatment, the levels of TNF‐α and IL‐1β were significantly decreased in different genotypes, and the decrease in CC was the greatest. The frequency of TT and TC genotypes was higher than that of CC genotypes.ConclusionELP4 rs986527 polymorphism affected the incidence of clinical symptoms and the levels of TNF‐α and IL‐1β in patients with intracranial arachnoid cysts.

Quiste aracnoideo intracraneal a causa de trauma craneoencefálico en paciente pediátrico. Reporte de caso

“…También se han descrito como reacciones inflamatorias subaracnoideas producidas por infecciones, traumatismos, procesos isquémicos, tumores, neurocirugías y hemorragias cerebrales (Choi & Kim, 1998;Matushita et al, 2018;Mustansir et al, 2018), lo cual conduce a una acumulación patológica de LCR que se caracteriza por la presencia de células inflamatorias y depósitos de hemosiderina, los macrófagos secretan factores proinflamatorios como la IL-1β y TNF-α los cuales activan las vías de señalización de las células endoteliales para iniciar la cascada inflamatoria que promueve células y factores inflamatorios, esto dará lugar a un bucle de retroalimentación positiva por liberación de moléculas de adhesión, lo cual exacerba la reacción inflamatoria (Li et al, 2019).…”

“…Generalmente se han atribuido a un origen congénito a consecuencia de una microdivisión anómala de las membranas aracnoideas durante el desarrollo fetal (Helland & Wester, 2007;Mustansir et al, 2018), sin embargo se ha planteado que este no sería el único mecanismo implicado y que pueden ser secundarios a reacciones inflamatorias originadas por traumatismo craneoencefálico (TCE), hemorragia cerebral, neurocirugías e infecciones gestacionales lo cual conduce a la acumulación patológica de LCR (Choi & Kim, 1998;Li et al, 2019;Matushita et al, 2018;Mustansir et al, 2018), sin embargo, estos casos son excepcionalmente raros y se ha propuesto que es probable que también tengan un origen congénito.…”

Fetal arachnoid cyst: characteristics, management in pregnancy, and neurodevelopmental outcomes

“…One study from China reported an association between the elongator protein complex (ELP) 4 rs986527 polymorphism and the clinical features of arachnoid cyst [ 43 ]. ELP 4 is part of the multisubunit (ELP 1-ELP 6) extension complex, which is critical for the regulation of neuronal maturation (including neuronal system growth, development, and guidance) during neurogenesis.…”