title: Single-nucleotide polymorphism in Turkish patients with adolescent idiopathic scoliosis: curve progression is not related with MATN-1, LCT C/T-13910, and VDR BsmI.
abstract: The role of genetics in the etiopathogenesis of adolescent idiopathic scoliosis (AIS) is unclear. In this study, we investigated the relationship between AIS and polymorphisms in MATN-1, LCT C/T-13910, and VDR BsmI genes. 53 Turkish adolescents with diagnosed AIS and 54 healthy adult individuals were included in the study. MATN-1, LCT C/T-13910, and VDR BsmI gene mutations were analyzed with real-time PCR. We did not detect a statistically significant difference between AIS and control groups in respect to those three different gene polymorphisms (p < 0.05). We next evaluated the associations of all three SNPs with scoliosis curve severity. There was no significant difference between curve severity and gene polymorphisms (p < 0.05). In terms of gene polymorphisms, AIS patients with a family history of AIS did not significantly differ from AIS patients who did not have history (p < 0.05). AIS might be caused by many different gene mutations, biomechanical mechanisms that have been modified by environmental factors, different biological interactions, modulation of growth, or a synergy of different factors causing abnormal control of growth. However, the existing knowledge is still not enough to explain the etiopathogenesis of AIS.
authors.affiliation: Departments of Physical Medicine, Faculty of Medicine, Canakkale Onsekiz Mart University, Canakkale, Turkey. hurriyetyilmaz@comu.edu.tr
authors.forename: Hurriyet
authors.initials: H
authors.lastname: Yilmaz
authors.forename: Coskun
authors.initials: C
authors.lastname: Zateri
authors.forename: Ahmet
authors.initials: A
authors.lastname: Uludag
authors.forename: Coskun
authors.initials: C
authors.lastname: Bakar
authors.forename: Sule
authors.initials: S
authors.lastname: Kosar
authors.forename: Ozturk
authors.initials: O
authors.lastname: Ozdemir
mesh_terms: D000293:Adolescent; D064236:Cartilage Oligomeric Matrix Protein; D016022:Case-Control Studies; D002648:Child; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005260:Female; D005838:Genotype; D006023:Glycoproteins / Q000235:genetics*; D006801:Humans; D010694:Lactase-Phlorizin Hydrolase / Q000235:genetics*; D008297:Male; D064235:Matrilin Proteins; D020641:Polymorphism, Single Nucleotide; D018167:Receptors, Calcitriol / Q000235:genetics*; D012600:Scoliosis / Q000235:genetics*; D014421:Turkey; D055815:Young Adult
chemical_list: D064236:Cartilage Oligomeric Matrix Protein; D016326:Extracellular Matrix Proteins; D006023:Glycoproteins; C577539:MATN1 protein, human; D064235:Matrilin Proteins; D018167:Receptors, Calcitriol; C577553:TSP5 protein, human; D010694:Lactase-Phlorizin Hydrolase