双胞胎患有食道的表观遗传发现
Michal Błoch1, Piotr Gasperowicz2, Sylwester Gerus3
1Department of Family and Pediatric Nursing, Wroclaw Medical University, 51-618 Wroclaw, Poland.
Genes
|September 28, 2023
概括
食道 (EA) 是一种常见的出生缺陷. 这项研究发现EA婴儿的DNA甲基化模式存在显著差异,特别是与Rho GTPase通路相关的基因.
科学领域:
- 遗传学 是一个遗传学.
- 发展生物学 发展生物学
- 表观遗传学 在表观遗传学中,表观遗传学是指表观遗传学.
背景情况:
- 食道 (EA) 是胃肠上部最常见的先天性形,约3500名新生儿中发生1例.
- 在男性和双胞胎中,EA更频繁地发生,它的确切原因仍然未知,尽管怀疑涉及表观遗传修饰的多因素病因.
研究的目的:
- 调查与健康双胞胎相比,孤立EA的婴儿的全基因组DNA甲基化概况.
- 识别在EA中表观遗传改变的特定基因和途径.
主要方法:
- 使用减少表示双硫酸盐测序 (RRBS) 进行全基因组甲基化分析.
- 用血液和食道组织的DNA比较EA患者和他们的健康兄弟姐妹之间的CpG岛甲基化概况.
- 对差异甲基化基因进行路径丰富分析.
主要成果:
- 在DNA甲基化中发现了广泛的改变,在219个基因促进剂中出现过甲基化,在78个基因促进剂中出现低甲基化.
- 在Rho GTPase通路内的10个高甲基化基因的甲基化概况中发现了统计学上显著的差异,以前与EA无关.
- 确定的特定基因包括ARHGAP36,ARHGAP4,ARHGAP6,ARHGEF6,ARHGEF9,FGD1,GDI1,MCF2,OCRL,以及STARD8. 这些基因都被发现.
结论:
- 表观遗传失调,特别是改变的DNA甲基化,在孤立EA的病因学中起作用.
- 在EA的病变发生过程中,Rho GTPase路径代表了一个新的研究领域.
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