Candidate genes of empty sella

Victoria B. Sharavii, N. A. Shnayder, M. Petrova
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引用次数: 1

Abstract

Empty sella (ES) is a condition characterized by arachnoid herniation into the sellar fossa which leads to flattening of the pituitary gland against the sellar floor. Besides endocrine disturbances, patients with ESS may also have neuropsychiatric symptoms such as headache, dizziness, seizures, schizophrenia. Typically, ES is not inherited. However, due to the advent of new methods of brain imaging and molecular genetics, the perspective on the genetics of ESS has been changing. The aim of this study is to analyze genome-wide association studies of candidate genes related to the development of ESS in humans. Based on the available studies which have been analyzed, all candidate genes of ESS were divided into 4 groups: group 1 - candidate genes related to ESS, group 2 - candidate genes related to pathways of ESS, group 3 - candidate genes related to cellular components of ESS, group 4 - candidate genes related to biological processes of ESS.
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空鞍候选基因
空鞍(ES)是一种以蛛网膜突出进入鞍窝为特征的疾病,它导致垂体对鞍底变平。除内分泌紊乱外,ESS患者还可能出现神经精神症状,如头痛、头晕、癫痫发作、精神分裂症。通常,ES不是遗传的。然而,由于脑成像和分子遗传学的新方法的出现,对ESS的遗传学观点已经发生了变化。本研究的目的是分析与人类ESS发展相关的候选基因的全基因组关联研究。根据已有研究结果,将ESS候选基因分为4组:1组为ESS相关候选基因,2组为ESS通路相关候选基因,3组为ESS细胞组分相关候选基因,4组为ESS生物过程相关候选基因。
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