Genome-wide association study identifies <i>GAK</i> and <i>KLF12</i> associated with curve severity of adolescent idiopathic scoliosis.

ABSTRACT:

Background

Genetic factors have been increasingly recognized as important contributors to the development and progression of adolescent idiopathic scoliosis (AIS). However, the genetic basis underlying AIS curve severity remains largely unclear. The objective of this study is to identify novel genetic variants associated with curve severity in AIS through a genome-wide association study (GWAS).

Methods

In the discovery stage, 620 female AIS patients were enrolled, including 323 with severe curves (> 40°) and 297 with mild curves (< 30°). Top single nucleotide polymorphisms (SNPs) from each locus were selected for replication in an independent cohort of 634 severe and 546 mild cases. Associations between gene expression and Cobb angle were evaluated using Spearman correlation

SUBMITTER: Dai Z 

PROVIDER: S-EPMC12826036 | biostudies-literature | 2026

REPOSITORIES: biostudies-literature