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早产儿脑曲度改变与自闭症谱系障碍及脂质代谢相关的常见基因变异有关。

Altered Cerebral Curvature in Preterm Infants Is Associated with the Common Genetic Variation Related to Autism Spectrum Disorder and Lipid Metabolism.

作者信息

Kim Hyuna, Ahn Ja-Hye, Lee Joo Young, Jang Yong Hun, Kim Young-Eun, Kim Johanna Inhyang, Kim Bung-Nyun, Lee Hyun Ju

机构信息

Department of Translational Medicine, Hanyang University Graduate School of Biomedical Science and Engineering, Seoul 04763, Korea.

Department of Pediatrics, Hanyang University College of Medicine, Seoul 04763, Korea.

出版信息

J Clin Med. 2022 May 31;11(11):3135. doi: 10.3390/jcm11113135.

Abstract

Preterm births are often associated with neurodevelopmental impairment. In the critical developmental period of the fetal brain, preterm birth disrupts cortical maturation. Notably, preterm birth leads to alterations in the fronto-striatal and temporal lobes and the limbic region. Recent advances in MRI acquisition and analysis methods have revealed an integrated approach to the genetic influence on brain structure. Based on imaging studies, we hypothesized that the altered cortical structure observed after preterm birth is associated with common genetic variations. We found that the presence of the minor allele at rs1042778 in OXTR was associated with reduced curvature in the right medial orbitofrontal gyrus (p < 0.001). The presence of the minor allele at rs174576 in FADS2 (p < 0.001) or rs740603 in COMT (p < 0.001) was related to reduced curvature in the left posterior cingulate gyrus. This study provides biological insight into altered cortical curvature at term-equivalent age, suggesting that the common genetic variations related to autism spectrum disorder (ASD) and lipid metabolism may mediate vulnerability to early cortical dysmaturation in preterm infants.

摘要

早产通常与神经发育障碍有关。在胎儿大脑的关键发育时期,早产会扰乱皮质成熟。值得注意的是,早产会导致额叶 - 纹状体、颞叶和边缘区域发生改变。MRI采集和分析方法的最新进展揭示了一种研究基因对脑结构影响的综合方法。基于影像学研究,我们假设早产后观察到的皮质结构改变与常见的基因变异有关。我们发现,OXTR基因中rs1042778位点的次要等位基因与右侧内侧眶额回曲率降低有关(p < 0.001)。FADS2基因中rs174576位点(p < 0.001)或COMT基因中rs740603位点(p < 0.001)的次要等位基因与左侧后扣带回曲率降低有关。这项研究为足月等效年龄时皮质曲率改变提供了生物学见解,表明与自闭症谱系障碍(ASD)和脂质代谢相关的常见基因变异可能介导了早产儿早期皮质发育异常的易感性。

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