A replication study for association of five single nucleotide polymorphisms with curve progression of adolescent idiopathic scoliosis in Japanese

A genetic association study of single nucleotide polymorphisms (SNPs) previously reported to be associated with curve progression of idiopathic scoliosis (AIS). Objective To determine whether the association of five SNPs with curve progression reported in Chinese AIS are replicated in Japanese AIS. We evaluated the progression (N=880) and non-progression (N=492) subjects, and their risk allele frequencies were not different significantly. The mean Cobb angle for each genotype also did not have statistical difference. We found no replication of the association on AIS curve progression in any of the SNPs. The associations of the five SNPs with progression of AIS curve are not definite. Large-scale association studies based on appropriate criteria for progression would be necessary to identify SNPs associated with the curve progression. Abstract AIS has a strong genetic predisposition, and a number of SNPs were reported to have association with curve progression. We investigated the associations of 5 SNPs with AIS curve progression previously reported in Chinese AIS; however, they were not replicated in Japanese AIS.

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