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作者

Long Ji Haifeng Hou Kai Zhu Xuezhen Liu Yizhi Liu Qian Wang Jindong Li Huamin Liu Qianqian Zhang Jian Lv Rachel Alexander Wei Wang and Dong Li

作者单位

School of Medical and Health Sciences, Edith Cowan University, Perth, Australia. Search for more papers by this author com School of Public Health, Taishan Medical University, Tai'an, P.R. China. Search for more papers by this author School of Public Health, Taishan Medical University, Tai'an, P.R. China. School of Medical and Health Sciences, Edith Cowan University, Perth, Australia. Search for more papers by this author and Address correspondence to: Dong Li, PhD, School of Public Health, Taishan Medical University, 619 Changcheng Road, Tai'an 271016, P.R. China E-mail Address: tsmcdongli@16 School of Public Health, Taishan Medical University, Tai'an, P.R. China. School of Medical and Health Sciences, Edith Cowan University, Perth, Australia. * These authors contributed equally to this work. Search for more papers by this author School of Public Health, Taishan Medical University, Tai'an, P.R. China. Search for more papers by this author School of Public Health, Taishan Medical University, Tai'an, P.R. China. * These authors contributed equally to this work. Search for more papers by this author

刊名

OMICS: A Journal of Integrative Biology

年份

2019

卷号

Vol.23 No.1

页码

28-35

ISSN

1536-2310;1557-8100

关键词

birth defects ventricular septal defect microRNA NOTCH1 gene gene regulation genetic polymorphism

摘要

Birth defects, the ventricular septal defect in particular, have major public health significance. There is evidence that genetic factors play a role in VSD risk. We report here our findings on the relationship between VSD and microRNA -3691-3p target sequence single-nucleotide polymorphisms in the 3′ untranslated region of the NOTCH1 gene. Functional SNPs in NOTCH1 target sequence were screened from the SNP database. A case–control study in a large Chinese Han population sample of 350 childre...更多

Birth defects, the ventricular septal defect in particular, have major public health significance. There is evidence that genetic factors play a role in VSD risk. We report here our findings on the relationship between VSD and microRNA -3691-3p target sequence single-nucleotide polymorphisms in the 3′ untranslated region of the NOTCH1 gene. Functional SNPs in NOTCH1 target sequence were screened from the SNP database. A case–control study in a large Chinese Han population sample of 350 children with VSD and 430 healthy controls examined the association between rs6563 SNPs and VSD. NOTCH1 wild and mutant recombinant expression vectors were constructed by the luciferase reporter gene system. The effects of miRNA on gene regulatory effects were also analyzed. The allelic distributions at the locus rs6563 showed statistically significant susceptibility to VSD (odds ratio [OR] = 1.502, 95% confidence interval [CI] = 1.209–1.866, p A genetic variation appears to be associated with congenital VSD through gene regulatory effects of miR-3691-3p on the NOTCH1 gene. Further studies in other population samples are called for diagnostics and public health innovation in relation to birth defects.收起

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期刊

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