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The effect of apoprotein E gene polymorphism on neurocognitive functions of children with CHD
Cardiology in the Young ( IF 1 ) Pub Date : 2022-09-01 , DOI: 10.1017/s1047951122002621
Tugba Bedir Demirdag 1 , Kivilcim Gucuyener 2 , A Sebnem Soysal 2 , Sezen Guntekin Ergun 3, 4 , Zeynep Ozturk 5 , Mehmet Ali Ergun 4 , Sedef Tunaoğlu 6
Affiliation  

Studies have demonstrated an association between CHD and neurodevelopmental delay. This delay is associated with many factors like reduced blood flow and oxygen, cardiac catheterisations, and genetic factors. Apo E gene polymorphism is one of these genetic factors. This study aims to show the effect of Apo E gene polymorphism on neurodevelopmental process in children having CHD. A total of 188 children having CHD were admitted to the study. Apo E gene polymorphism of these patients was determined, and psychometric evaluation was performed. The relationship between psychometric test results and gene polymorphism was evaluated. This study shows that, similar to the literature, patients having cyanotic CHD have worse scores than acyanotic patients, and the children with CHD are under risk in terms of neuropsychiatric disorders. Other novel and important findings of this study were the lower verbal scores of ε2 allele carriers than ε4 carriers in Wechsler Intelligence Scale for Children-Revised group and the worse test score of patients having VSD than other acyanotic patients. Besides, some special disorders may be seen in this patient group.



中文翻译:

脱辅基蛋白E基因多态性对先心病患儿神经认知功能的影响

研究表明,冠心病与神经发育迟缓之间存在关联。这种延迟与许多因素有关,例如血流量和氧气减少、心导管插入术和遗传因素。Apo E基因多态性就是这些遗传因素之一。本研究旨在探讨Apo E基因多态性对先天性心脏病儿童神经发育过程的影响。共有 188 名患有先心病的儿童参加了这项研究。对这些患者进行Apo E基因多态性测定,并进行心理评估。评估心理测试结果与基因多态性之间的关系。本研究表明,与文献类似,紫绀型冠心病患者的评分比紫绀型冠心病患者的评分更差,并且冠心病儿童存在神经精神疾病的风险。本研究的其他新颖且重要的发现是,在韦克斯勒儿童智力量表修订组中,ε2 等位基因携带者的言语得分低于 ε4 携带者,以及 VSD 患者的测试得分比其他紫绀患者更差。此外,在该患者群体中可能会出现一些特殊的疾病。

更新日期:2022-09-01
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