Integrated DNA methylation analysis reveals a potential role for PTPRN2 in Marfan syndrome scoliosis.

ABSTRACT:

Background

Marfan syndrome (MFS) is a rare genetic disorder caused by mutations in the Fibrillin-1 gene (FBN1) with significant clinical features in the skeletal, cardiopulmonary, and ocular systems. To gain deeper insights into the contribution of epigenetics in the variability of phenotypes observed in MFS, we undertook the first analysis of integrating DNA methylation and gene expression profiles in whole blood from MFS and healthy controls (HCs).

Methods

The Illumina 850K (EPIC) DNA methylation array was used to detect DNA methylation changes on peripheral blood samples of seven patients with MFS and five HCs. Associations between methylation levels and clinical features of MFS were analyzed. Subsequently, we conducted an integrated analysis of the outcomes of the transc

SUBMITTER: Zheng ZZ 

PROVIDER: S-EPMC10831201 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature