title: Association of the polymorphisms of vitamin D receptor and aggrecan genes with degenerative disc disease.
abstract: The aim of this study was to investigate the association between the polymorphisms of the vitamin D receptor (VDR) and aggrecan genes and degenerative disc disease in young Turkish patients. Aggrecan and VDR proteins are the main components of bone and cartilage. In our study, the polymorphisms of the VDR and aggrecan genes were investigated in a total of 300 individuals regarding disc degeneration and herniation. An association was found in the patients having VDR gene TT, Tt, FF, and Ff genotypes with the protrusion type of disc herniation, whereas the patients having tt and ff genotypes were associated with extrusion/sequestration types of the disease. Also, an association was observed between TT and FF genotypes of the VDR gene and mild forms of disc degeneration; and tt, ff, and Ff genotypes and severe forms of the disease. There was also an association between shorter, normal, and longer alleles of the aggrecan gene and a protrusion type of disc herniation. An association was found between short alleles and multilevel and severe disc degeneration, as well as normal and long alleles and mild disc degeneration. This study revealed that the polymorphisms of the VDR and aggrecan genes are associated with disc degeneration and herniation.
authors.affiliation: Department of Medical Genetic, Faculty of Meram Medicine, Selcuk University, Konya, Turkey. drbetuleser@gmail.com
authors.forename: Betul
authors.initials: B
authors.lastname: Eser
authors.forename: Tulin
authors.initials: T
authors.lastname: Cora
authors.forename: Olcay
authors.initials: O
authors.lastname: Eser
authors.forename: Erdal
authors.initials: E
authors.lastname: Kalkan
authors.forename: Alpay
authors.initials: A
authors.lastname: Haktanir
authors.forename: Mujgan O
authors.initials: MO
authors.lastname: Erdogan
authors.forename: Mustafa
authors.initials: M
authors.lastname: Solak
mesh_terms: D000328:Adult; D053674:Aggrecans / Q000235:genetics*; D005260:Female; D006801:Humans; D055959:Intervertebral Disc Degeneration / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D007405:Intervertebral Disc Displacement / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D008159:Lumbar Vertebrae / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D011110:Polymorphism, Genetic; D018167:Receptors, Calcitriol / Q000235:genetics*; D014421:Turkey / Q000453:epidemiology; D055815:Young Adult
chemical_list: D053674:Aggrecans; D018167:Receptors, Calcitriol