DNA methylation abnormalities of imprinted genes in congenital heart disease: a pilot study.
DNA methylation abnormalities of imprinted genes in congenital heart disease: a pilot study.
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先天性心脏病中印迹基因的 DNA 甲基化异常：一项试点研究
DOI：
10.1186/s12920-020-00848-0
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发表时间：
2021-01-06
影响因子：
2.7
通讯作者：
Li J
中科院分区：
文献类型：
--
作者：
Chang S;Wang Y;Xin Y;Wang S;Luo Y;Wang L;Zhang H;Li J
研究背景先天性心脏病（Congenital heart disease，CHD）是遗传变异和环境因素共同作用的结果.受表观遗传修饰调控的印记基因对胚胎的正常发育至关重要。然而，印迹基因在CHD病因中的作用仍不清楚。MethodsAfter样品用硫酸氢盐处理，印迹基因甲基化测定基质辅助激光解吸/电离飞行时间质谱。组间差异采用T检验和单因素方差分析。比值比（OR）进行评估CHD的发病风险与甲基化水平的关系。ResultsWe调查了CHD患者的印迹基因种系差异甲基化区域（gDMR）甲基化的改变。选取已知影响早期胚胎发育的18个印迹基因，采用微阵列技术检测27例CHD患儿和28例健康儿童的甲基化修饰基因。发现8个印迹基因的gDMR甲基化水平发生改变，其中2个印迹基因GRB 10和MEST高甲基化，6个印迹基因PEG 10、NAP 1 L5、INPP 5 F、PLAGL 1、NESS和MEG 3低甲基化。分层分析显示，不同类型冠心病患者印迹基因甲基化程度不同。风险分析显示，除MEST和NAP 1 L5外，其他6个印记基因在特定甲基化水平范围内均为CHD的危险因素。结论印记基因甲基化改变与CHD有关，且在不同类型CHD中存在差异。进一步的实验研究将有助于明确不同类型冠心病中印记基因的甲基化特征，阐明印记基因在冠心病中的致病机制。
BackgroundCongenital heart disease (CHD) is resulted from the interaction of genetic aberration and environmental factors. Imprinted genes, which are regulated by epigenetic modifications, are essential for the normal embryonic development. However, the role of imprinted genes in the etiology of CHD remains unclear.MethodsAfter the samples were treated with bisulfate salt, imprinted genes methylation were measured by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. T test and One-way ANOVA were performed to evaluate the differences among groups. Odds ratios (ORs) were performed to evaluate the incidence risk of CHD in relation to methylation levels.ResultsWe investigated the alterations of imprinted gene germline differential methylation regions (gDMRs) methylation in patients with CHD. Eighteen imprinted genes that are known to affect early embryonic development were selected and the methylation modification genes were detected by massarray in 27 CHD children and 28 healthy children. Altered gDMR methylation level of 8 imprinted genes was found, including 2 imprinted genes with hypermethylation ofGRB10andMESTand 6 genes with hypomethylation ofPEG10,NAP1L5,INPP5F,PLAGL1,NESPandMEG3. Stratified analysis showed that the methylation degree of imprinted genes was different in different types of CHD. Risk analysis showed that 6 imprinted genes, exceptMESTandNAP1L5,within a specific methylation level range were the risk factors for CHDConclusionAltered methylation of imprinted genes is associated with CHD and varies in different types of CHD. Further experiments are warranted to identify the methylation characteristics of imprinted genes in different types of CHD and clarify the etiologies of imprinted genes in CHD.
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影响因子：
3.5
作者：
Shiura, Hirosuke;Nakamura, Kenji;Ishino, Fumitoshi
通讯作者：
Ishino, Fumitoshi
影响因子：
3.7
作者：
Serra-Juhé C;Cuscó I;Homs A;Flores R;Torán N;Pérez-Jurado LA
通讯作者：
Pérez-Jurado LA
影响因子：
1.8
作者：
Ineson, Jessica;Stayner, Cherie;Eccles, Michael R.
通讯作者：
Eccles, Michael R.
DOI：
10.1073/pnas.1532175100
发表时间：
2003-07-08
影响因子：
11.1
作者：
Charalambous, M;Smith, FM;Ward, A
通讯作者：
Ward, A
影响因子：
20.1
作者：
Piccoli, Maria-Teresa;Gupta, Shashi Kumar;Thum, Thomas
通讯作者：
Thum, Thomas