与出生时区域脑叶体积变化相关的自闭症谱系障碍常见变异：人类连接组计划中273名欧洲足月儿的横断面研究

Autism spectrum disorder common variants associated with regional lobe volume variations at birth: cross-sectional study in 273 European term neonates in developing human connectome project.

作者信息

Le Hai, Fenchel Daphna, Dimitrakopoulou Konstantina, Patel Hamel, Curtis Charles, Cordero-Grande Lucilio, Edwards A David, Hajnal Joseph, Tournier Jacques-Donald, Deprez Maria, Cullen Harriet

机构信息

Research Department of Early Life Imaging, School of Biomedical Engineering and Imaging Sciences, King's College London, London, UK.

Translational Bioinformatics Platform, NIHR Biomedical Research Centre, Guy's and St. Thomas' NHS Foundation Trust and King's College London, London, UK.

出版信息

Transl Psychiatry. 2025 Feb 5;15(1):41. doi: 10.1038/s41398-025-03253-2.

DOI:10.1038/s41398-025-03253-2

PMID:39910040

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11799222/

Abstract

Increasing lines of evidence suggest cerebral overgrowth in autism spectrum disorder (ASD) children in early life, but few studies have examined the effect of ASD common genetic variants on brain volumes in a general paediatric population. This study examined the association between ASD polygenic risk score (PRS) and volumes of the frontal, temporal, parietal, occipital, fronto-temporal and parieto-occipital lobes in 273 term-born infants of European ancestry in the developing Human Connectome Project. ASD PRS was positively associated with frontal (β = 0.027, p = 0.04) and fronto-temporal (β = 0.024, p = 0.01) volumes, but negatively with parietal (β = -0.037, p = 0.04) and parieto-occipital (β = -0.033, p = 0.01) volumes. This preliminary result suggests the potential involvement of ASD common genetic variants in early structural variations linked to ASD.

摘要

越来越多的证据表明，自闭症谱系障碍（ASD）儿童在生命早期存在大脑过度生长的情况，但很少有研究在普通儿科人群中考察ASD常见基因变异对脑容量的影响。本研究在正在开展的人类连接组计划中，对273名欧洲血统的足月儿进行了考察，分析自闭症谱系障碍多基因风险评分（PRS）与额叶、颞叶、顶叶、枕叶、额颞叶和顶枕叶脑容量之间的关联。ASD PRS与额叶脑容量（β = 0.027，p = 0.04）和额颞叶脑容量（β = 0.024，p = 0.01）呈正相关，但与顶叶脑容量（β = -0.037，p = 0.04）和顶枕叶脑容量（β = -0.033，p = 0.01）呈负相关。这一初步结果表明，ASD常见基因变异可能参与了与ASD相关的早期结构变异。