Lack of association between AKAP2 and the susceptibility of adolescent idiopathic scoliosis in the Chinese population.

ABSTRACT:

Background

Adolescent idiopathic scoliosis (AIS) is a well characterized spinal deformity that affects millions of children world-wide. The role of genetic factor in the development of AIS has been of great interest, since obvious hereditary trend has been observed in AIS families. In a recent study of Chinese population, a novel mutation of AKAP2 was observed in a family with AIS, which was believed to play a role in the aetiopathogenesis of AIS. The purpose of this study was to investigate whether genetic variants of AKAP2 are associated with the susceptibility of AIS in Chinese population.

Methods

SNV c.2645A > C of AKAP2 was genotyped in 1254 AIS patients and 1232 normal controls using allelic-specific multiple ligase detection reactions. SNPs located within 5' untransla

SUBMITTER: Xu L 

PROVIDER: S-EPMC5571670 | biostudies-literature | 2017 Aug

REPOSITORIES: biostudies-literature