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

Brain Behav. 2019 Dec;9(12):e01480. doi: 10.1002/brb3.1480. Epub 2019 Nov 19.

Abstract

Objective: The association between ELP4 rs986527 polymorphism and the occurrence and development of intracranial arachnoid cyst was studied in this paper.

Methods: Eighty-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.

Results: ELP4 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.

Conclusion: ELP4 rs986527 polymorphism affected the incidence of clinical symptoms and the levels of TNF-α and IL-1β in patients with intracranial arachnoid cysts.

Keywords: ELP4; incidence; intracranial arachnoid cyst; polymorphism.

MeSH terms

  • Adult
  • Arachnoid Cysts* / diagnosis
  • Arachnoid Cysts* / genetics
  • Arachnoid Cysts* / physiopathology
  • Female
  • Gene Frequency
  • Humans
  • Interleukin-1beta / analysis
  • Male
  • Middle Aged
  • Nerve Tissue Proteins / genetics*
  • Polymorphism, Genetic
  • Tumor Necrosis Factor-alpha / analysis

Substances

  • ELP4 protein, human
  • IL1B protein, human
  • Interleukin-1beta
  • Nerve Tissue Proteins
  • Tumor Necrosis Factor-alpha