Identification and validation of lncRNA mutation hotspot SNPs associated with myasthenia gravis susceptibility.

ABSTRACT:

Background

Myasthenia gravis (MG) is an autoimmune disorder caused by antibodies that target the postsynaptic muscle membrane. Recent evidence suggests that genetic variants and long noncoding RNAs (lncRNAs) play crucial roles in the pathogenesis of MG. The purpose of this study was to investigate the associations between lncRNA-related single-nucleotide polymorphisms (SNPs) and MG susceptibility in Chinese populations.

Methods

First, we identified lncRNA mutation hotspot regions based on the improved Kolmogorov‒Smirnov test and the cumulative hypergeometric distribution principle. Next, we further identified lncRNA mutation hotspot SNPs by calculating conservative scores. Finally, experiments were conducted to verify the associations between lncRNA mutation hotspot SNPs and

SUBMITTER: He N 

PROVIDER: S-EPMC11786913 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature