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Thread: Scoliscore Fails Second, Independent Analysis

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  1. #1
    Join Date
    Mar 2009

    Scoliscore Fails Second, Independent Analysis

    A few weeks ago Scoliscore failed for the second time when put under independent analysis. First here is some quick background information. Axial Biotech, the company that developed this test was liquidated in 2013. The company website is currently being used to sell E-Cigarettes. Dr. Kenneth Ward, Axial's Chief Scientific Officer no longer works in the field of Scoliosis. ScoliScore was purchased by a penny stock company called Transgenomic during the liquidation.

    A Replication Study for Association of 53 Single Nucleotide Polymorphisms in ScoliScoreTM Test with Adolescent Idiopathic Scoliosis in French-Canadian Population.
    Spine (Phila Pa 1976). 2015 Feb 2.

    Study Design. A replication association study that used genomic data generated from French-Canadian case and control cohorts.Objectives. To determine whether the 53 single nucleotide polymorphisms (SNPs) that were previously associated with spinal deformity progression in an American Caucasian cohort, are similarly associated in French-Canadian population.Summary of Background Data. It is widely accepted that genetic factors contribute to AIS. The identification of genetic variants associated with the predisposition or progression of curvature could facilitate diagnostic/prognostic tool development. Although 53 SNPs have been associated with spinal curve progression in Caucasian cohorts in the USA, these associations were not replicated in a large Japanese-population study, arguing that such a discrepancy could be explained by ethnicity, thus raising the importance of a replication study in an independent Caucasian population of European descent.Methods. Genomic data was collected from the French-Canadian population, using the Illumina HumanOmni 2.5M BeadChip. Fifty-two SNPs, tested in ScoliScore or in high linkage disequilibrium (LD) with SNPs in the test, were selected to assess their association with scoliosis generally, and with spinal curve progression. One SNP in ScoliScore, rs16909285, could not be evaluated in our GWAS.Results. None of the SNPs used in ScoliScore were associated with AIS curve progression or curve occurrence in French-Canadian population. We evaluated 52 SNPs in severe patients by comparing risk allele frequencies with those in non-severe patients and with those in control individuals. There was no significant difference between the severe group and the non-severe group or between the severe group and the control group.Conclusions. Although the 52 SNPs studied here were previously associated with curve progression in an American population of European descent, we found no association in French-Canadian AIS patients. This second replication cohort suggests that the lack of association of these SNPs in a Japanese cohort is not due to ethnicity.

    This is the earlier Japanese study that failed to replicate Axial's findings.
    A replication study for association of 53 single nucleotide polymorphisms in a scoliosis prognostic test with progression of adolescent idiopathic scoliosis in Japanese.
    Spine (Phila Pa 1976). 2013 Jul 15

    METHODS: We recruited 2117 patients with AIS with 10 or more (Cobb angle) of scoliosis curves. They were divided into progression and nonprogression groups according to their Cobb angle. We defined the progression of the curve as Cobb angle more than 50 for skeletally mature subjects and more than 40 for immature patients, subjects. We defined the nonprogression of the curve as Cobb angle 50 or less only for skeletally mature subjects. Of the 2117 patients, 1714 patients with AIS were allocated to either the progression or nonprogression group. We evaluated the association of 53 SNPs with curve progression by comparing risk allele frequencies between the 2 groups.

    RESULTS: We evaluated the progression (N = 600) and nonprogression (N = 1114) subjects. Their risk allele frequencies were not different significantly. We found no replication of the association on AIS curve progression in any of the SNPs.
    Last edited by Dingo; 04-05-2015 at 02:18 AM.

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