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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
Author(s) -
Yilmaz Hurriyet,
Zateri Coskun,
Uludag Ahmet,
Bakar Coskun,
Kosar Sule,
Ozdemir Ozturk
Publication year - 2012
Publication title -
journal of orthopaedic research
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.041
H-Index - 155
eISSN - 1554-527X
pISSN - 0736-0266
DOI - 10.1002/jor.22075
Subject(s) - single nucleotide polymorphism , scoliosis , medicine , idiopathic scoliosis , turkish , calcitriol receptor , gene , polymorphism (computer science) , genetics , gastroenterology , genotype , biology , surgery , vitamin d and neurology , linguistics , philosophy
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