A genetic variant alters the secondary structure of the lncRNA H19 and is associated with dilated cardiomyopathy.

ABSTRACT: lncRNAs are at the core of many regulatory processes and have also been recognized to be involved in various complex diseases. They affect gene regulation through direct interactions with RNA, DNA or proteins. Accordingly, lncRNA structure is likely to be essential for their regulatory function. Point mutations, which manifest as SNPs (single nucleotide polymorphisms) in genome screens, can substantially alter their function and, subsequently, the expression of their downstream regulated genes. To test the effect of SNPs on structure, we investigated lncRNAs associated with dilated cardiomyopathy. Among 322 human candidate lncRNAs, we demonstrate first the significant association of an SNP located in lncRNA H19 using data from 1084 diseased and 751 control patients. H19 is generally highly

SUBMITTER: Martens L 

PROVIDER: S-EPMC8677012 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature