卵圆孔未闭
医学
单核苷酸多态性
心脏病学
内科学
遗传学
生物信息学
基因
生物
基因型
偏头痛
作者
Matteo Paolucci,Chiara Vincenzi,Michele Romoli,Giulia Amico,Isabella Ceccherini,Simona Lattanzi,Bradford B. Worrall,Marco Longoni,Simona Sacco,Fabrizio Vernieri,Rosario Pascarella,Franco Valzania,Marialuisa Zedde
出处
期刊:Genes
[MDPI AG]
日期:2021-12-06
卷期号:12 (12): 1953-1953
被引量:5
标识
DOI:10.3390/genes12121953
摘要
Patent Foramen Ovale (PFO) is a common postnatal defect of cardiac atrial septation. A certain degree of familial aggregation has been reported. Animal studies suggest the involvement of the Notch pathway and other cardiac transcription factors (GATA4, TBX20, NKX2-5) in Foramen Ovale closure. This review evaluates the contribution of genetic alterations in PFO development. We systematically reviewed studies that assessed rare and common variants in subjects with PFO. The protocol was registered with PROSPERO and followed MOOSE guidelines. We systematically searched English studies reporting rates of variants in PFO subjects until the 30th of June 2021. Among 1231 studies, we included four studies: two of them assessed the NKX2-5 gene, the remaining reported variants of chromosome 4q25 and the GATA4 S377G variant, respectively. We did not find any variant associated with PFO, except for the rs2200733 variant of chromosome 4q25 in atrial fibrillation patients. Despite the scarceness of evidence so far, animal studies and other studies that did not fulfil the criteria to be included in the review indicate a robust genetic background in PFO. More research is needed on the genetic determinants of PFO.
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