Functional genomic variant patterns in Caucasian patients diagnosed with idiopathic scoliosis: a controlled, observational study

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Mark W. Morningstar Clayton J. Stitzel Megan Strauchman

Abstract

Previous studies have identified various genetic variants associated with idiopathic scoliosis. However, only individual single nucleotide polymorphisms (SNPs) were described, making application to clinical practice difficult. The current study examined functional SNP groups, where individual SNPs were collectively categorized based upon a common metabolic function or pathway. The number and types of functional SNP groups were identified and compared between a group of Caucasian idiopathic scoliosis patients, and a group of Caucasian, non-scoliosis patients. Intergroup comparison showed a significant difference in 19 functional SNP groups out of 131 reported. Intragroup comparison of the scoliosis group found a statistically significantly higher average number of the 19 significant SNP groups in the scoliosis patients with curves above surgery threshold compared to those below. Within the scoliosis patient group, those patients above the recommended surgery threshold of 50° were found to have a higher average number of positive SNP categories when compared to patients below the recommended surgery threshold. It remains to be determined if these functional SNP group differences may explain some of the metabolic abnormalities reported in patients with idiopathic scoliosis. Further research should explore means of treating or supporting these SNP group impacts on metabolic function.

Article Details

How to Cite
MORNINGSTAR, Mark W.; STITZEL, Clayton J.; STRAUCHMAN, Megan. Functional genomic variant patterns in Caucasian patients diagnosed with idiopathic scoliosis: a controlled, observational study. Medical Research Archives, [S.l.], v. 7, n. 9, oct. 2019. ISSN 2375-1924. Available at: <https://journals.ke-i.org/index.php/mra/article/view/1984>. Date accessed: 17 oct. 2019. doi: https://doi.org/10.18103/mra.v7i9.1984.
Section
Research Articles

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