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01-12-2017 | Original Article

A unique methylation pattern co-segregates with neural tube defect statuses in Han Chinese pedigrees

Authors: Ruiping Zhang, Lirong Cao, Yizheng Wang, Yulian Fang, Linsheng Zhao, Weidong Li, Ou-Yan Shi, Chun-Quan Cai

Published in: Neurological Sciences | Issue 12/2017

Abstract

Neural tube defects (NTDs) are a complex trait associated with gene–environment interactions. Folic acid deficiency and planar cell polarity gene mutations account for some NTD cases; however, the etiology of NTDs is still little understood. In this study, in three Han Chinese NTD pedigrees (two with multiple affected children), with no information on folic acid deficiency or supplement, we examined genome-wide methylation profiles of each individual in these families. We further compared methylation status among cases and normal individuals within the pedigrees. A unique methylation pattern co-segregated with affected status: NTD cases had more hypermethylated than hypomethylated CpG islands; genes with different methylations clustered in pathways associated with epithelial-to-mesenchymal transition (ZEB2, SMAD6, and CDH23), folic acid/homocysteine metabolism (MTHFD1L), transcription/nuclear factors (HDAC4, HOXB7, SOX18), cell migration/motility/adhesion, insulin and cell growth, and neuron/axon development. Although the genetics of NTD are likely complex, epigenetic changes may concentrate in certain key pathways.

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Title: A unique methylation pattern co-segregates with neural tube defect statuses in Han Chinese pedigrees
Authors: Ruiping Zhang
Lirong Cao
Yizheng Wang
Yulian Fang
Linsheng Zhao
Weidong Li
Ou-Yan Shi
Chun-Quan Cai
Publication date: 01-12-2017
Publisher: Springer Milan
Published in: Neurological Sciences / Issue 12/2017
Print ISSN: 1590-1874
Electronic ISSN: 1590-3478
DOI: https://doi.org/10.1007/s10072-017-3132-1

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

A unique methylation pattern co-segregates with neural tube defect statuses in Han Chinese pedigrees

Abstract

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Abstract

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