Associations between matrilin-1 gene polymorphisms and adolescent idiopathic scoliosis curve patterns in a korean population

Jae Woong Bae, Chang Hyun Cho, Woo Kie Min, Un Kyung Kim

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12 Scopus citations

Abstract

Adolescent idiopathic scoliosis (AIS) is a complex disorder with an unclear etiology and pathogenesis. In previous studies, genome-wide linkage and genetic association analyses have been carried out to find genetic factors linked with AIS. In this study, we examined whether the susceptibility to AIS is associated with MATN1 gene polymorphisms in a Korean population, which included 166 individuals with AIS and 126 controls. We found that there were no statistically significant associations between any of the MATN1-linked allele or genotype frequencies between AIS and controls. However, statistically significant associations were found at single nucleotide polymorphism (SNP) rs1065755 when comparing the curve patterns of AIS with the controls. The A allele of SNP rs1065755 was associated with a higher risk of AIS than the allele G in the genotype- phenotype (curve pattern) analysis (P = 0.029). In addition, the frequency of the A allele of SNP rs1065755 in AIS with double major curves was higher than in controls (P = 0.021, ORs =2.56 within 95% CI = 1.12-5.83). Additionally, among the predicted common haplotypes, the frequency of the haplotype GATT (31.3%) in AIS with double major curves was higher than in controls (15.2%) (P = 0.024, ORs = 2.54 within 95% CI = 1.11-5.84). We conclude that the A allele of SNP rs1065755 in the MATN1 gene is associated with AIS.

Original languageEnglish
Pages (from-to)5561-5567
Number of pages7
JournalMolecular Biology Reports
Volume39
Issue number5
DOIs
StatePublished - May 2012

Keywords

  • Adolescent idiopathic scoliosis
  • Association
  • Gene
  • MATN1
  • Single nucleotide polymorphism

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