希腊散发性先天性心脏病患者NFKB1、NKX2-5、GATA4和RANKL基因多态性的相关性研究

IF 0.5 4区 医学 Q4 GENETICS & HEREDITY
Balkan Journal of Medical Genetics Pub Date : 2021-07-27 eCollection Date: 2021-06-01 DOI:10.2478/bjmg-2021-0014
L Aidinidou, A Chatzikyriakidou, A Giannopoulos, V Karpa, I Tzimou, E Aidinidou, L Fidani
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引用次数: 2

摘要

先天性心脏病(CHD)是一组心脏和大血管的结构性缺陷,是婴儿和年轻人死亡的主要原因之一。一些基因变异参与了心脏和血管发育的不同机制,因此可以被认为是先天性心脏缺陷的候选突变基因或特定变异可能使人易患冠心病。在本研究中,我们首次在一组希腊年轻冠心病患者中研究了四个基因的变异:NFKB1基因多态性(-94ins/ delATTG)、rs28362491、NKX2-5基因多态性rs2277923、GATA4基因多态性rs11785481和RANKL基因多态性rs4531631。共有43名冠心病患者和100名健康成年人参与了这项研究。采用聚合酶链反应-限制性片段长度多态性(PRC-RFLP)方法对NFKB1、NKX2-5、GATA4和RANKL的上述多态性进行基因分型。关联分析发现,冠心病与rs2277923多态性的a等位基因存在保护性关联(p = 0.004)。rs28362491多态性的D等位基因也可能是导致冠心病的危险因素(p = 0.006)。rs4531631和rs11785481变异贡献率组间差异无统计学意义(p >0.05)。总之,我们的研究结果显示,rs28362491和rs2277923基因多态性,而不是rs4531631和rs11785481基因多态性,可能与希腊冠心病患者队列中的冠心病风险有关。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Association of NFKB1, NKX2-5, GATA4 and RANKL Gene Polymorphisms with Sporadic Congenital Heart Disease in Greek Patients.

Congenital heart disease (CHD) is a group of structural defects of the heart and the great vessels, and one of the leading causes of death among infants and young adults. Several gene variants are involved in diverse mechanisms of cardiac and vessel development and could thus be considered candidate mutated genes for a congenital heart defect or a specific variant could predispose a person to CHD. In the present study, variants in four such genes are investigated for the first time in a group of young Greek CHD patients: the NFKB1 gene polymorphism (-94ins/ delATTG), rs28362491, NKX2-5 gene polymorphism rs2277923, GATA4 gene polymorphism rs11785481 and RANKL gene polymorphism rs4531631. A total of 43 CHD patients and 100 healthy adults were included in the study. The polymerase chain reaction-restriction fragment length polymorphism (PRC-RFLP) method was used to genotype the aforementioned polymorphisms of NFKB1, NKX2-5, GATA4 and RANKL. The association analysis identified that there was a protective association between CHD and the A allele of rs2277923 polymorphism (p = 0.004). The D allele of the rs28362491 polymorphism is also a likely risk factor for causing CHD (p = 0.006). The differences of the rs4531631 and rs11785481 variant contribution had no statistical significance between the groups (p >0.05). In conclusion, our results revealed that the rs28362491 and rs2277923 gene polymorphisms, but not the rs4531631 and rs11785481 polymorphisms, may contribute to CHD risk in a cohort of Greek CHD patients.

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来源期刊
CiteScore
1.00
自引率
0.00%
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0
审稿时长
>12 weeks
期刊介绍: Balkan Journal of Medical Genetics is a journal in the English language for publication of articles involving all branches of medical genetics: human cytogenetics, molecular genetics, clinical genetics, immunogenetics, oncogenetics, pharmacogenetics, population genetics, genetic screening and diagnosis of monogenic and polygenic diseases, prenatal and preimplantation genetic diagnosis, genetic counselling, advances in treatment and prevention.
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