Maternal effect genes as risk factors for congenital heart defects.
Maternal effect genes as risk factors for congenital heart defects.
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DOI：
10.1016/j.xhgg.2022.100098
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发表时间：
2022-04-14
期刊：
影响因子：
--
通讯作者：
Mitchell LE
中科院分区：
文献类型：
--
作者：
Musfee FI;Oluwafemi OO;Agopian AJ;Hakonarson H;Goldmuntz E;Mitchell LE
母体效应基因（MEG）编码因子（例如，在胚胎基因组激活之前，卵母细胞中控制胚胎发育的RNA）。已经鉴定了超过80种哺乳动物MEG，包括与人类表型相关的几种。母亲MEG的变异与一系列不良后果相关，在人类中，包括葡萄胎、合子卵裂失败和后代多位点印迹障碍。此外，来自动物模型和人类的数据表明，MEG可能与结构性出生缺陷如先天性心脏病（CHD）有关。为了进一步研究MEG和CHD之间的关联，我们对已知的哺乳动物MEG（n = 82）和两组常见的CHD（圆锥动脉干心脏缺损和左心室流出道缺损）进行了基因水平和基因集分析。我们确定了14个候选CHD相关MEG。这14种MEG包括11种已知人类MEG中的3种（CDC 20、KHDC3L和TRIP 13），以及与动物模型中结构性出生缺陷相关的8种MEG中的1种（DNMT 3A）。我们的分析增加了越来越多的证据表明，MEG与结构性出生缺陷，特别是CHD有关。鉴于大部分结构性出生缺陷患者的病因不明，因此有必要进一步研究MEG作为结构性出生缺陷的潜在危险因素。来自动物模型和人类的数据表明，母体效应基因（MEG）可能与结构性出生缺陷，如先天性心脏病（CHD）有关。为了进一步评估MEG与人类CHD的相关性，我们对已知的哺乳动物MEG进行了基因水平的分析，并确定了14个候选CHD相关MEG。
Maternal effect genes (MEGs) encode factors (e.g., RNA) in the oocyte that control embryonic development prior to activation of the embryonic genome. Over 80 mammalian MEGs have been identified, including several that have been associated with phenotypes in humans. Maternal variation in MEGs is associated with a range of adverse outcomes, which, in humans, include hydatidiform moles, zygotic cleavage failure, and offspring with multi-locus imprinting disorders. In addition, data from both animal models and humans suggest that the MEGs may be associated with structural birth defects such as congenital heart defects (CHDs). To further investigate the association between MEGs and CHDs, we conducted gene-level and gene-set analyses of known mammalian MEGs (n = 82) and two common groups of CHDs: conotruncal heart defects and left ventricular outflow tract defects. We identified 14 candidate CHD-related MEGs. These 14 MEGs include three (CDC20, KHDC3L, and TRIP13) of the 11 known human MEGs, as well as one (DNMT3A) of the eight MEGs that have been associated with structural birth defects in animal models. Our analyses add to the growing evidence that MEGs are associated with structural birth defects, in particular CHDs. Given the large proportion of individuals with structural birth defects for whom etiology of their condition is unknown, further investigations of MEGs as potential risk factors for structural birth defects are strongly warranted. Data from animal models and humans suggest that maternal effect genes (MEGs) may be associated with structural birth defects such as congenital heart defects (CHDs). To further assess the association of MEGs with CHDs in humans, we conducted gene-level analyses of known mammalian MEGs and identified 14 candidate CHD-related MEGs.
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