Genome-wide DNA methylation profiles may reveal new possible epigenetic pathogenesis of sporadic congenital cataract

Abstract

Aim: To investigate the possible epigenetic pathogenesis of sporadic congenital cataract. Materials &methods: We conducted whole genome bisulfite sequencing on peripheral blood from sporadic binocular or monocular congenital cataract patients and cataract-free participants. Results: We found massive differentially methylated regions within the whole genomes between any two groups. Meanwhile, we identified five genes (ACTN4, ACTG1, TUBA1A, TUBA1C, TUBB4B) for the binocular and control groups and TUBA1A for the monocular and control groups as the core differentially methylated region-related genes. The proteins encoded by these core genes are involved in building cytoskeleton and intercellular junctions. Conclusion: Changes in the methylation levels of core genes may disturb the function of cytoskeleton and intercellular junctions, eventually leading to sporadic congenital cataract.

Keywords::

• differentially methylated region
• lens
• methylation
• sporadic congenial cataract

Supplementary data

To view the supplementary data that accompany this paper please visit the journal website at: www.tandfonline.com/doi/suppl/10.2217/epi-2019-0254

Financial & competing interests disclosure

This work was supported by the Zhejiang Provincial Natural Science Foundation of China (LY17H120001), the Fundamental Research Funds for the Central Universities (2018FZA7006), Program of National Natural Science Foundation of China (nos. 81570822, 81870641), Zhejiang Key Laboratory Fund of China (no. 2011E10006) and the Zhejiang Province Key Research and Development Program (2015C03042). The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed.

No writing assistance was utilized in the production of this manuscript.

Ethical conduct of research

The authors state that this study was conducted in accordance with the principles of the Helsinki Declaration. The ethics committee of the Second Affiliated Hospital of Zhejiang University approved this study. The authors obtained informed consent from the guardians of all the participants.