Abstract:
BACKGROUND:Congenital heart disease (CHD) is the leading non-infectious cause of death in infants. Monozygotic (MZ) twins share nearly all of their genetic variants before and after birth. Nevertheless, MZ twins are sometimes discordant for common complex diseases. The goal of this study is to identify genomic and epigenomic differences between a pair of twins discordant for a form of congenital heart disease, double outlet right ventricle (DORV). RESULTS:A monoamniotic monozygotic (MZ) twin pair discordant for DORV were subjected to genome-wide sequencing and methylation analysis. We identified few genomic differences but 1566 differentially methylated regions (DMRs) between the MZ twins. Twenty percent (312/1566) of the DMRs are located within 2 kb upstream of transcription start sites (TSS), containing 121 binding sites of transcription factors. Particularly, ZIC3 and NR2F2 are found to have hypermethylated promoters in both the diseased twin and additional patients suffering from DORV. CONCLUSIONS:The results showed a high correlation between hypermethylated promoters at ZIC3 and NR2F2 and down-regulated gene expression levels of these two genes in patients with DORV compared to normal controls, providing new insight into the potential mechanism of this rare form of CHD.
journal_name
BMC Genomicsjournal_title
BMC genomicsauthors
Lyu G,Zhang C,Ling T,Liu R,Zong L,Guan Y,Huang X,Sun L,Zhang L,Li C,Nie Y,Tao Wdoi
10.1186/s12864-018-4814-7subject
Has Abstractpub_date
2018-06-04 00:00:00pages
428issue
1issn
1471-2164pii
10.1186/s12864-018-4814-7journal_volume
19pub_type
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