Replication of Association Between 53 Single-Nucleotide Polymorphisms in a DNA-Based Diagnostic Test and AIS Progression in Chinese Han Population

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Abstract

Study Design.

A case-only study.

Objective.

The aim of this study was to evaluate the association of the 53 single-nucleotide polymorphisms (SNPs) in a prognostic test with curve progression in Chinese adolescent idiopathic scoliosis (AIS) patients.

Summary of Background Data.

“ScoliScore” was the first diagnostic kit developed for curve progression of AIS in the white population. To date, there is still a paucity of validation of ScoliScore in Chinese Han population.

Methods.

A total of 670 AIS patients were included in the study, with 313 patients assigned to the nonprogression group and the other 357 patients assigned to the progression group. A panel of 53 SNPs encompassed in ScoliScore were genotyped using the PCR-based Invader assay. The allele frequencies were compared between AIS patients with progressive curve and those with nonprogressive curve.

Results.

SNP rs9945359 and rs17044552 are the only 2 SNPs that had significantly different allele frequencies between the 2 groups. Allele A of rs9945359 was significantly higher in the progression group than in the nonprogression group (25.7% vs 19.5%, P = 0.01), and allele A of rs17044552 was significantly lower in the progression group (11.5% vs 16.4%, P = 0.01). The odds ratio (OR) of these 2 SNPs were 1.42 [95% confidence interval (95% CI) 1.09–1.88] and 0.65 (95% CI 0.47–0.91), respectively. As for the allele frequencies of the other 51 SNPs, no significant difference was found between the 2 groups.

Conclusion.

ScoliScore could not be able to predict the curve progression of AIS in Chinese Han population. However, the role of this test in other populations cannot be totally excluded, and additional replication studies in other ethnic groups are warranted to evaluate the significance of these SNPs.

Conclusion.

Level of Evidence: 4

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