Expression of COL9A1 gene and its polymorphism in children with idiopathic congenital talipes equinovarus

LIU Li-Ying; JIN Chun-Lian; JIANG Li; LIN Chang-Kun

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Chinese Journal of Contemporary Pediatrics ›› 2011, Vol. 13 ›› Issue (6) : 478-481.

CLINICAL RESEARCH

Expression of COL9A1 gene and its polymorphism in children with idiopathic congenital talipes equinovarus

LIU Li-Ying, JIN Chun-Lian, JIANG Li, LIN Chang-Kun

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Abstract

OBJECTIVE: COL9A1 gene is located in the susceptibility region of idiopathic congenital talipes equinovarus (ICTEV) (6q12-13). This study aimed to investigate the expression of the COL9A1 gene and the distribution of single nucleotide polymorphism (SNP) of COL9A1 gene in patients with ICTEV and normal controls. METHODS: Immunohistochemistry was used to detect the expression of COL9A1 in 25 children with ICTEV and 5 normal controls. The frequencies of genotypes and allele of two SNPs in COL9A1 gene rs35470562 and rs1135056 were investigated by PCR-restriction fragment length polymorphism (PCR-RFLP) and DNA sequencing in 118 patients with ICTEV and 100 normal controls. RESULTS: The COL9A1 protein expression was significantly higher in 22 (88%) out of 25 children with ICTEV than normal controls. There were significant differences in the frequencies of genotypes and allele of rs1135056 in COL9A1 gene between the ICTEV and the control groups: the G allele frequency was higher, the frequency of AA genotype was lower, and the frequencies of AG and GG genotypes were higher in ICTEV patients than those in healthy controls (P<0.05). CONCLUSIONS: COL9A1 protein is highly expressed in patients with ICTEV and rs1135056, which is located in the coding region of COL9A1 gene, may be associated with the pathogenesis of ICTEV.

Key words

Idiopathic congenital talipes equinovarus / COL9A1 gene / Single nucleotide polymorphism / Child

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LIU Li-Ying, JIN Chun-Lian, JIANG Li, LIN Chang-Kun. Expression of COL9A1 gene and its polymorphism in children with idiopathic congenital talipes equinovarus[J]. Chinese Journal of Contemporary Pediatrics. 2011, 13(6): 478-481

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