PDGFRA gene, maternal binge drinking and obstructive heart defects.
PDGFRA gene, maternal binge drinking and obstructive heart defects.
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DOI：
10.1038/s41598-018-29160-9
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发表时间：
2018-07-23
影响因子：
4.6
通讯作者：
Hobbs CA
中科院分区：
文献类型：
--
作者：
Tang X;Eberhart JK;Cleves MA;Li J;Li M;MacLeod S;Nembhard WN;Hobbs CA
阻塞性心脏缺陷（OHD）是全球主要的健康问题。已知血小板衍生生长因子（PDGF）基因具有对心脏正常发育至关重要的调节功能。在斑马鱼模型中，Pdgfra被进一步证明在颅面发育期间与乙醇相互作用。在这篇文章中，我们调查了PDGF基因变异和围受孕期酒精暴露对OHD风险的相互作用，通过应用对数线性模型对806例OHD病例和995个对照家庭进行了国家出生缺陷预防研究。PDGFA的四个变量与母亲酗酒之间的相互作用达到了名义上的显着性水平。据估计，母亲的T等位基因rs869978在酗酒的妇女中增加了OHD的风险，而婴儿的rs2291591，rs2228230，rs1547904和rs869978基因型可能降低风险。虽然这些关联在多次测试调整后没有统计学意义，估计的母体效应可能受到未知混杂因素的影响，如母体吸烟，但这些发现与先前的动物研究一致，支持PDGFRA基因和母体酒精暴露之间的潜在相互作用。需要更大样本量的重复研究来进一步阐明这种潜在的相互作用及其对OHD风险的影响。
Obstructive heart defects (OHDs) are a major health concern worldwide. The platelet-derived growth factor (PDGF) genes are known to have regulatory functions that are essential for proper heart development. In a zebrafish model, Pdgfra was further demonstrated to interact with ethanol during craniofacial development. In this article, we investigated interactions between variants in PDGF genes and periconceptional alcohol exposure on the risk of OHDs by applying log-linear models to 806 OHD case and 995 control families enrolled in the National Birth Defects Prevention Study. The interactions between four variants in PDGFA and maternal binge drinking reached a nominal significance level. The maternal T allele of rs869978 was estimated to increase OHD risk among women who binge drink, while infant genotypes of rs2291591, rs2228230, rs1547904, and rs869978 may reduce the risk. Although none of these associations remain statistically significant after multiple testing adjustment and the estimated maternal effect may be influenced by unknown confounding factors, such as maternal smoking, these findings are consistent with previous animal studies supporting potential interactions between the PDGFRA gene and maternal alcohol exposure. Replication studies with larger sample sizes are needed to further elucidate this potential interplay and its influence on OHD risks.
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影响因子：
5.6
作者：
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通讯作者：
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