ASSOCIATION OF NFKB1, NKX2-5, GATA4 AND RANKL GENE POLYMORPHISMS WITH SPORADIC CONGENITAL HEART DISEASE IN GREEK PATIENTS
Aidinidou L1, Chatzikyriakidou A1, Giannopoulos A2, Karpa V1, Tzimou I2, Aidinidou E3, Fidani L1,*
*Corresponding Author: Professor Liana Fidani, Department of General Biology, Medical School, Aristotle University of Thessaloniki, University Campus, GR-54124, Thessaloniki, Greece. Tel.: +30- 231-099-9165. Fax: +30-231-099-9019. E-mail: sfidani@auth.gr
page: 15

REFERENCES

1. Zhang D, Li L, Zhu Y, Zhao L, Wan L, Lv J, et al. The NFKB1 -94 ATTG insertion/deletion polymorphism (rs28362491) contributes to the susceptibility of congenital heart disease in a Chinese population. Gene. 2013; 516(2): 307-310. 2. Pan Y, Wang ZG, Liu XY, Zhao H, Zhou N, Zheng GF, et al. A novel TBX1 loss-of-function mutation associated with congenital heart disease. Pediatr Cardiol. 2015; 36(7): 1400-1410. 3. Tong YF. Mutations of NKX2.5 and GATA4 genes in the development of congenital heart disease. Gene. 2016; 588(1): 86-94. 4. Chaix MA, Andelfinger G, Khairy P. Genetic testing in congenital heart disease: A clinical approach. World J Cardiol. 2016; 8(2): 180-191. 5. Cao Y, Wang J, Wei C, Hou Z, Li Y, Zou H, et al. Genetic variations of NKX2-5 in sporadic atrial septal defect and ventricular septal defect in Chinese Yunnan population. Gene. 2016; 575(1): 29-33. 6. Su W, Zhu P, Wang R, Wu Q, Wang M, Zhang X, et al. Congenital heart diseases and their association with the variant distribution features on susceptibility genes. Clin Genet. 2017; 91(3): 349-354. 7. Wang Z, Zou L, Zhong R, Zhu B, Chen W, Shen N, et al. Associations between two genetic variants in NKX2-5 and risk of congenital heart disease in Chinese population: a meta-analysis. PLoS One. 2013; 8(8): e70979. 8. Pulignani S, Vecoli C, Sabina S, Foffa I, Ait-Ali L, Andreassi MG. 3’UTR SNPs and haplotypes in the GATA4 gene contribute to the genetic risk of congenital heart disease. Rev Esp Cardiol (Engl Ed). 2016; 69(8): 760-765. 9. Yang X, Li P, Tao J, Qin C, Cao Q, Gu J, et al. Association between NFKB1 -94ins/del ATTG promoter polymorphism and cancer susceptibility: An updated metaanalysis. Int J Genomics. 2014; 2014: 612972. 10. Wang F, Wang H, Wang L, Zhou S, Chang M, Zhou J, et al. Association between single nucleotide polymorphisms in NFATC1 signaling pathway genes and susceptibility to congenital heart disease in the Chinese population. Pediatr Cardiol. 2016; 37(8): 1548-1561. 11. Yang J, Si D, Zhao Y, He C, Yang P. S-amlodipine improves endothelial dysfunction via the RANK/ RANKL/OPG system by regulating microRNA-155 in hypertension. Biomed Pharmacother. 2019; 114: 108799. 12. Chen B, Wu W, Sun W, Zhang Q, Yan F, Xiao Y. RANKL expression in periodontal disease: Where does RANKL come from? Biomed Res Int. 2014; 2014: 731039. 13. Bishop KA, Wang X, Coy HM, Meyer MB, Gumperz JE, Pike JW. Transcriptional regulation of the human TNFSF11 gene in T cells via a cell type-selective set of distal enhancers. J Cell Biochem. 2015; 116(2): 320-330. 14. Sweeting MJ, Sutton AJ, Lambert PC. What to add to nothing? Use and avoidance of continuity corrections in meta-analysis of sparse data. Stat Med. 2004; 23(9): 1351-1375. 15. Cao Y, Lan W, Li Y, Wei C, Zou H, Jiang L. Single nucleotide polymorphism of NKX2-5 gene with sporadic congenital heart disease in Chinese Bai population. Int J Clin Exp Pathol. 2015; 8(11): 14917-1424. 16. Lai HM, Li XM, Yang YN, Ma YT, Xu R, Pan S, et al. Genetic variation in NFKB1 and NFKBIA and susceptibility to coronary artery disease in a Chinese Uygur population. PLoS One. 2015; 10(6): e0129144. 17. Vogel U, Jensen MK, Due KM, Rimm EB, Wallin H, Nielsen MR, et al. The NFKB1 ATTG ins/del polymorphism and risk of coronary heart disease in three independent populations. Atherosclerosis. 2011; 219(1): 200-204. 18. Lo Iacono N, Pangrazio A, Abinun M, Bredius R, Zecca M, Blair HC, et al. RANKL cytokine: From pioneer of the osteoimmunology era to cure for a rare disease. Clin Dev Immunol. 2013; 2013: 412768. 19. Yang XY, Jing XY, Chen Z, Liu YL. Correlation between GATA4 gene polymorphism and congenital heart disease. Int J Clin Exp Med. 2015; 8(9): 16733- 16736. 20. Shi L, Shen AD, Li XF, Bai S, Guan XL, Li ZZ. Mutation screening of Nkx2.5 gene and association study in exon1 in Chinese with congenital heart disease. J Cap Univ Med Sci. 2005; 26(5): 525-528. 21. Yin J, Qian J, Dai G, Wang C, Qin Y, Xu T, et al. Search of somatic mutations of NKX2-5 and GATA4 genes in Chinese patients with sporadic congenital heart disease. Pediatr Cardiol. 2019; 40(1): 17-22. 22. Zheng J, Li F, Liu J, Xu Z, Zhang H, Fu Q, et al. Investigation of somatic NKX2-5 mutations in Chinese children with congenital heart disease. Int J Med Sci. 2015; 12(7): 538-543.



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