CHD7 gene polymorphisms and familial idiopathic scoliosis.

ABSTRACT:

Study design

Model-independent linkage analysis and tests of association were performed for 22 single nucleotide polymorphisms in the CHD7 gene in 244 families of European descent with familial idiopathic scoliosis (FIS).

Objective

To replicate an association between FIS and the CHD7 gene on 8q12.2 in an independent sample of families of European descent.

Summary of background data

The CHD7 gene on chromosome 8, responsible for the CHARGE syndrome, was previously associated with FIS in an independent study that included 52 families of European descent.

Methods

Model-independent linkage analysis and intrafamilial tests of association were performed on the degree of lateral curvature considered as a qualitative trait (with thresholds of ≥10°, ≥15°, ≥20°, and ≥30°

SUBMITTER: Tilley MK 

PROVIDER: S-EPMC3881965 | biostudies-literature | 2013 Oct

REPOSITORIES: biostudies-literature