Genetic association analysis between polymorphisms of HAIRY-AND-ENHANCER-OF SPLIT-7 and congenital scoliosis.

ABSTRACT:

Objective

We explored the association between genetic polymorphisms of HAIRY-AND-ENHANCER-OF-SPLIT-7 (HES7) and congenital scoliosis (CS) in 246 cases of congenital scoliosis and non-congenital controls, in which the age and sex were fully matched. All participants were Chinese Han population.

Methods

The genome DNA was extracted from peripheral blood sample. Two SNPs were defined for HES7 using NCBI database. The genotypes of two SNPs were determined by SNP stream UHT Genotyping System.

Results

Polymorphisms were found in both SNPs and in accordance with Hardy-Weinberg equilibrium. For SNP rs3027279, the difference of two alleles (C and A) frequencies between CS and control groups Was statistically significant. Analysis also showed the difference of two genotypes (C/

SUBMITTER: Gu Z 

PROVIDER: S-EPMC4659097 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature