title: 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/C and C/A) frequencies between two groups was significant (χ(2)=5.857, P<0.05). For SNP rs1442849, both difference of two alleles (A and G) frequencies and difference of three genotypes (G/G, G/A and AA) frequencies between two groups were shown statistically significant.
  
  
  CONCLUSIONS
  The unconditional Logistic regression analysis showed A/A genotype of SNP rsl442849 may be a protective factor (P=0.018<0.05, OR-0.35, 95% CI=0.17-0.74) for the onset of CS, while C/A genotype of SNP rs3027279 increased the onset risk (P=0.015<0.05, OR=1.93, 95% CI=1.13-3.30) of CS. Linkage disequilibrium analysis demonstrated the existence of linkage disequilibrium between the two SNPs.
authors.affiliation: Department of Orthopaedics, The First People's Hospital of Chengdu Chengdu 610071, Sichuan Province, P. R. China.
authors.forename: Zuchao
authors.initials: Z
authors.lastname: Gu
authors.affiliation: Department of Orthopaedics, Peking Union Medical College Hospital Beijing 10005, P. R. China.
authors.forename: Guixing
authors.initials: G
authors.lastname: Qiu
authors.affiliation: Department of Orthopaedics, The First People's Hospital of Chengdu Chengdu 610071, Sichuan Province, P. R. China.
authors.forename: Yu
authors.initials: Y
authors.lastname: Zhang
keywords: Congenital scoliosis; association analysis; hairy-and-enhance-of-split-7; single nucleotide polymorphisms