Objective: To investigate the polymorphism distribution of the PCOL2 and Sp1 binding sites of the collagen type I alpha 1(COL1A1) gene in Chinese population and explore their relationship with congenital dislocation of the hip (CDH).
Methods: The PCOL2 polymorphism (-1997 G/T) in COL1A1 promoter and the Sp1 polymorphism (1546 G/T) in intron 1 were genotyped in 243 members from 81 CDH nuclear family trios by the technique of polymerase chain reaction-restriction fragment length polymorphism, and then transmission disequilibrium test was used to analyze the data of genotypes.
Results: No statistically significant association was observed between CDH and PCOL2 polymorphism. Significant differences of genotype and allele frequency distributions were detected between the Chinese population and the Caucasian population in Spain, and between the Chinese population and the Caucasian population in America. The allele at the Sp1 site that has been found to be polymorphic in other populations was not found in Chinese.
Conclusion: There exists racial difference in the distribution of the PCOL2 and Sp1 polymorphisms of COL1A1 gene. The results suggest that the PCOL2 and Sp1 polymorphisms may not be the major susceptibility gene of CDH in Chinese population.