Association Between Congenital Heart Disease and NKX2.5 Gene Polymorphisms: Systematic Review and Meta-Analysis

References

• Yoshida A , MorisakiH, NakajiMet al. Genetic mutation analysis in Japanese patients with non-syndromic congenital heart disease. J. Hum. Genet.61(2), 157–162 (2016).
   PubMed Web of Science ®Google Scholar
• Abdul Samad F , SulimanBA, BashaSH, ManivasagamT, EssaMM. A comprehensive in silico analysis on the structural and functional impact of SNPs in the congenital heart defects associated with NKX2-5 gene-a molecular dynamic simulation approach. PLoS ONE11(5), e0153999 (2016).
   PubMed Web of Science ®Google Scholar
• Arya P , WilsonTE, ParentJJet al. An adult female with 5q34-q35.2 deletion: a rare syndromic presentation of left ventricular non-compaction and congenital heart disease. Eur.J. Med. Genet.63(4), 103797 (2019).
   PubMed Web of Science ®Google Scholar
• Beffagna G , CecchettoA, DalBianco Let al. R25C mutation in the NKX2.5 gene in Italian patients affected with non-syndromic and syndromic congenital heart disease. J. Cardiovasc. Med. (Hagerstown)14(8), 582–586 (2013).
   PubMed Web of Science ®Google Scholar
• Gioli-Pereira L , PereiraAC, MesquitaSMet al. NKX2.5 mutations in patients with non-syndromic congenital heart disease. Int. J. Cardiol.138(3), 261–265 (2010).
   PubMed Web of Science ®Google Scholar
• Zakariyah AF , RajgaraRF, HornerEet al. In Vitro modeling of congenital heart defects associated with an NKX2-5 mutation revealed a dysregulation in BMP/notch-mediated signaling. Stem Cells36(4), 514–526 (2018).
   PubMed Web of Science ®Google Scholar
• Zakariyah AF , RajgaraRF, VeinotJP, SkerjancIS, BurgonPG. Congenital heart defect causing mutation in Nkx2.5 displays in vivo functional deficit. J. Mol. Cell. Cardiol.105, 89–98 (2017).
   PubMed Web of Science ®Google Scholar
• Xiong F , LiQ, ZhangCet al. Analyses of GATA4, NKX2.5, and TFAP2B genes in subjects from southern China with sporadic congenital heart disease. Cardiovasc. Pathol.22(2), 141–145 (2013).
   PubMed Web of Science ®Google Scholar
• Yin J , QianJ, DaiGet al. Search of somatic mutations of NKX2-5 and GATA4 genes in Chinese patients with sporadic congenital heart disease. Pediatr. Cardiol.40(1), 17–22 (2019).
   PubMed Web of Science ®Google Scholar
• Tanaka M , WechslerSB, LeeIWet al. Complex modular cis-acting elements regulate expression of the cardiac specifying homeobox gene Csx/Nkx2.5. Development126(7), 1439–1450 (1999).
   PubMed Web of Science ®Google Scholar
• Wang J , XinYF, LiuXYet al. A novel NKX2-5 mutation in familial ventricular septal defect. Int. J. Mol. Med.27(3), 369–375 (2011).
   PubMed Web of Science ®Google Scholar
• Salazar M , ConsoliF, VillegasVet al. Search of somatic GATA4 and NKX2.5 gene mutations in sporadic septal heart defects. Eur. J. Med. Genet.54(3), 306–309 (2011).
   PubMed Web of Science ®Google Scholar
• Stallmeyer B , FengeH, Nowak-GottlU, Schulze-BahrE. Mutational spectrum in the cardiac transcription factor gene NKX2.5 (CSX) associated with congenital heart disease. Clin. Genet.78(6), 533–540 (2010).
   PubMed Web of Science ®Google Scholar
• Reamon-Buettner SM , HeckerH, Spanel-BorowskiKet al. Novel NKX2-5 mutations in diseased heart tissues of patients with cardiac malformations. Am. J. Pathol.164(6), 2117–2125 (2004).
   PubMed Web of Science ®Google Scholar
• Roy RR , SultanaGN, BegumR, ShahinuzzamanAD, SharifMI. The aspect of NK2 transcription factor related locus-5 (NKX2.5) gene mutations in Bangladeshi atrial septal defect (ASD) patients and 2D relationship with their age. Mymensingh Med. J.25(1), 79–84 (2016).
   PubMedGoogle Scholar
• Majumdar R , YagubyanM, SarkarG, BolanderME, SundtTM3rd. Bicuspid aortic valve and ascending aortic aneurysm are not associated with germline or somatic homeobox NKX2-5 gene polymorphism in 19 patients. J. Thorac. Cardiovasc. Surg.131(6), 1301–1305 (2006).
   PubMed Web of Science ®Google Scholar
• Reamon-Buettner SM , BorlakJ. Somatic NKX2-5 mutations as a novel mechanism of disease in complex congenital heart disease. J. Med. Genet.41(9), 684–690 (2004).
   PubMed Web of Science ®Google Scholar
• Ketharnathan S , KoshyT, SethuratnamR, PaulS, VenkatesanV. Investigation of NKX2.5 gene mutations in congenital heart defects in an Indian population. Genet. Test. Mol. Biomarkers19(10), 579–583 (2015).
   PubMed Web of Science ®Google Scholar
• Khatami M , MazidiM, TaherS, HeidariMM, HadadzadehM. Novel point mutations in the NKX2.5 gene in pediatric patients with non-familial congenital heart disease. Medicina (Kaunas)54(3), 1–11 (2018).
   PubMed Web of Science ®Google Scholar
• Hosoda T , KomuroI, ShiojimaIet al. Familial atrial septal defect and atrioventricular conduction disturbance associated with a point mutation in the cardiac homeobox gene CSX/NKX2-5 in a Japanese patient. Jpn. Circ. J.63(5), 425–426 (1999).
   PubMedGoogle Scholar
• Cao Y , LanW, LiYet al. Single nucleotide polymorphism of NKX2-5 gene with sporadic congenital heart disease in Chinese Bai population. Int. J. Clin. Exp. Pathol.8(11), 14917–14924 (2015).
   PubMed Web of Science ®Google Scholar
• Cao Y , WangJ, WeiCet al. Genetic variations of NKX2-5 in sporadic atrial septal defect and ventricular septal defect in Chinese Yunnan population. Gene575(1), 29–33 (2016).
   PubMed Web of Science ®Google Scholar
• Dinesh SM , KusumaL, SmithaRet al. Single-nucleotide polymorphisms of NKX2.5 found in congenital heart disease patients of Mysore, South India. Genet. Test. Mol. Biomarkers14(6), 873–879 (2010).
   PubMed Web of Science ®Google Scholar
• Zhang W , LiX, ShenAet al. Screening NKX2.5 mutation in a sample of 230 Han Chinese children with congenital heart diseases. Genet. Test. Mol. Biomarkers13(2), 159–162 (2009).
   PubMed Web of Science ®Google Scholar
• Pang S , ShanJ, QiaoYet al. Genetic and functional analysis of the NKX2-5 gene promoter in patients with ventricular septal defects. Pediatr. Cardiol.33(8), 1355–1361 (2012).
   PubMed Web of Science ®Google Scholar
• Behiry EG , Al-AzzounyMA, SabryD, BehairyOG, SalemNE. Association of NKX2-5, GATA4, and TBX5 polymorphisms with congenital heart disease in Egyptian children. Mol. Genet. Genomic Med.7(5), e612 (2019).
   PubMed Web of Science ®Google Scholar
• Aoki H , HorieM. Electrical disorders in atrial septal defect: genetics and heritability. J. Thorac. Dis.10(Suppl. 24), S2848–S2853 (2018).
   PubMedGoogle Scholar
• Bartlett H , VeenstraGJ, WeeksDL. Examining the cardiac NK-2 genes in early heart development. Pediatr. Cardiol.31(3), 335–341 (2010).
   PubMed Web of Science ®Google Scholar
• Su W , ZhuP, WangRet al. Congenital heart diseases and their association with the variant distribution features on susceptibility genes. Clin. Genet.91(3), 349–354 (2017).
   PubMed Web of Science ®Google Scholar
• Reamon-Buettner SM , BorlakJ. NKX2-5: an update on this hypermutable homeodomain protein and its role in human congenital heart disease (CHD). Hum. Mutat.31(11), 1185–1194 (2010).
   PubMed Web of Science ®Google Scholar
• Ellesoe SG , JohansenMM, BjerreJVet al. Familial atrial septal defect and sudden cardiac death: identification of a novel NKX2-5 mutation and a review of the literature. Congenit Heart Dis.11(3), 283–290 (2016).
   PubMed Web of Science ®Google Scholar
• Wang Z , ZouL, ZhongRet al. Associations between two genetic variants in NKX2-5 and risk of congenital heart disease in Chinese population: a meta-analysis. PLoS ONE8(8), e70979 (2013).
   PubMed Web of Science ®Google Scholar
• Xie X , ShiX, XunX, RaoL. Associations of NKX2-5 genetic polymorphisms with the risk of congenital heart disease: a meta-analysis. Pediatr. Cardiol.37(5), 953–961 (2016).
   PubMed Web of Science ®Google Scholar
• Liu M , ZhaoL, YuanJ. Establishment of relational model of congenital heart disease markers and GO functional analysis of the association between its serum markers and susceptibility genes. Comput. Math Methods Med.2016, 9506829 (2016).
   PubMed Web of Science ®Google Scholar