The effects of genomic variations and their
associations with idiopathic scoliosis have been the discussion of many
research trials. Previous investigations into catechol-o-methyl transferase
(COMT) have identified its importance in dopamine and estrogen metabolism.
While many genetic influences on idiopathic scoliosis have been observed, there
has been no report of any relationship between COMT mutations and idiopathic
scoliosis. The present study compared two groups of patients who received COMT
genetic testing. The first group had a history of idiopathic scoliosis, while
the other served as a non-scoliotic control group. The scoliosis group showed a
positive COMT mutation in 33 out of 58 patients, while the control group showed
22/58 (P < 0.05). The homozygous genotype Met/Met occurred significantly
more frequently in the scoliosis group. The increased incidence of COMT defects
in the current scoliosis patient group warrants further study into how COMT
variations may relate to the development or progression of idiopathic
scoliosis.
References
[1]
Zhu, Z., Xu, L., Leung-Sang Tang N, Qin, X., Feng, Z., Sun, W., et al. (2017) Genome-Wide Association Study Identifies Novel Susceptible Loci and Highlights Wnt/Beta-Catenin Pathway in the Development of Adolescent Idiopathic Scoliosis. Human Molecular Genetics, 26, 1577-1583. https://doi.org/10.1093/hmg/ddx045
[2]
Ogura, Y., Kou, I., Japan Scoliosis Clinical Research Group, Scoliosis, J., Matsumoto, M., Watanabe, K., et al. (2016) Genome-Wide Association Study for Adolescent Idiopathic Scoliosis. Clinical Calcium, 26, 553-560.
[3]
Yang, P., Liu, H., Lin, J. and Yang, H. (2015) The Association of rs4753426 Polymorphism in the Melatonin Receptor 1B (MTNR1B) Gene and Susceptibility to Adolescent Idiopathic Scoliosis: A Systematic Review and Meta-Analysis. Pain Physician, 18, 419-431.
[4]
Grauers, A., Einarsdottir, E. and Gerdhem, P. (2016) Genetics and Pathogenesis of Idiopathic Scoliosis. Scoliosis and Spinal Disorders, 11, 45. https://doi.org/10.1186/s13013-016-0105-8
[5]
Wajchenberg, M., Astur, N., Kanas, M. and Martins, D.E. (2016) Adolescent Idiopathic Scoliosis: Current Concepts on Neurological and Muscular Etiologies. Scoliosis and Spinal Disorders, 11, 4. https://doi.org/10.1186/s13013-016-0066-y
[6]
Janusz, P., Kotwicki, T., MaLgorzata, K. and Szulc, A. (2012) Genetic Aspects of Idiopathic Scoliosis—Literature Review. Scoliosis, 7, O71. https://doi.org/10.1186/1748-7161-7-S1-O71
[7]
Burwell, R.G., Aujla, R.K., Grevitt, M.P., Dangerfield, P.H., Moulton, A. and Randell, T.L. (2009) Pathogenesis of Adolescent Idiopathic Scoliosis in Girls—A Double Neuro-Osseous Theory Involving Disharmony between Two Nervous Systems, Somatic and Autonomic Expressed in the Spine and Trunk: Possible Dependency on Sympathetic Nervous System and Hormones with Implications for Medical Therapy. Scoliosis, 4, 24. https://doi.org/10.1186/1748-7161-4-24
[8]
Man, G.C., Wong, J.H., Wang, W.W., Sun, G.Q., Yeung, B.H. and Ng, T.B. (2011) Abnormal Melatonin Receptor 1B Expression in Osteoblasts from Girls with Adolescent Idiopathic Scoliosis. Journal of Pineal Research, 50, 395-402. https://doi.org/10.1111/j.1600-079X.2011.00857.x
[9]
Letellier, K., Azeddine, B., Parent, S., Labelle, H., Rompré, P.H. and Moreau, A. (2008) Estrogen Cross-Talk with the Melatonin Signaling Pathway in Human Osteoblasts Derived from Adolescent Idiopathic Scoliosis Patients. Journal of Pineal Research, 45, 383-393. https://doi.org/10.1111/j.1600-079X.2008.00603.x
[10]
Morningstar, M.W., Strauchman, M.N., Stitzel, C.J., Dovorany, B. and Siddiqui, A. (2017) Methylenetetrahydrofolate Reductase (MTHFR) Gene Mutations in Patients with Idiopathic Scoliosis: A Clinical Chart Review. Open Journal of Genetics, 7, 62-67. https://doi.org/10.4236/ojgen.2017.71006
[11]
Juarez, B. and Han, M.H. (2016) Diversity of Dopaminergic Neural Circuits in Response to Drug Exposure. Neuropsychopharmacology, 41, 2424-2446. https://doi.org/10.1038/npp.2016.32
[12]
Dalessandri, K.M., Firestone, G.L., Fitch, M.D., Bradlow, H.L. and Bjeldanes, L.F. (2004) Pilot Study: Effect of 3,3’-Diindolylmethane Supplements on Urinary Hormone Metabolites in Postmenopausal Women with a History of Early-Stage Breast Cancer. Nutrition and Cancer, 50, 161-167. https://doi.org/10.1207/s15327914nc5002_5
[13]
Morningstar, M. (2016) Neurotransmitter Status and Idiopathic Scoliosis: A Commentary on Pathways, Testing, Clinical Utility, and Treatment. Current Pediatric Research, 20, 14-19.
[14]
Morningstar, M.W., Siddiqui, A., Dovorany, B. and Stitzel, C.J. (2014) Can Neurotransmitter Status Affect the Results of Exercise-Based Scoliosis Treatment? Results of a Controlled Comparative Chart Review. Alternative & Integrative Medicine, 3, 177.
[15]
Morningstar, M. (2013) Neurotransmitter Patterns in Patients with Adolescent Idiopathic Scoliosis (AIS). Scoliosis, 8, O1. https://doi.org/10.1186/1748-7161-8-S2-O1
[16]
Noohi, F., Boyden, N.B., Kwak, Y., Humfleet, J., Burke, D.T., Müller, M.L.T.M., et al. (2014) Association of COMT val158met and DRD2 G>T Genetic Polymorphisms with Individual Differences in Motor Learning and Performance in Female Young Adults. Journal of Neurophysiology, 111, 628-640. https://doi.org/10.1152/jn.00457.2013
