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

• Published in: Journal of orthopaedic research Vol. 30; no. 9; pp. 1459 - 1463
• Main Authors: Yilmaz, Hurriyet, Zateri, Coskun, Uludag, Ahmet, Bakar, Coskun, Kosar, Sule, Ozdemir, Ozturk
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.09.2012
• Subjects: Adolescent; adolescent idiopathic scoliosis; Cartilage Oligomeric Matrix Protein; Case-Control Studies; Child; curve progression; Extracellular Matrix Proteins - genetics; Female; Genotype; Glycoproteins - genetics; Humans; Lactase-Phlorizin Hydrolase - genetics; lactose gene polymorphism; Male; matrilin gene polymorphism; Matrilin Proteins; Polymorphism, Single Nucleotide; Receptors, Calcitriol - genetics; Scoliosis - genetics; Turkey; vitamin d receptor gene polymorphism; Young Adult; Turkey
• ISSN: 0736-0266; 1554-527X
• DOI: 10.1002/jor.22075

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. © 2012 Orthopaedic Research Society. Published by Wiley Periodicals, Inc. J Orthop Res 30:1459–1463, 2012