Vitamin D receptor gene Bsmi polymorphism in adolescent idiopathic scoliosis

Vitamin D Receptor Gene BsmI Polymorphism in Adolescent İdiopathic ScoliosisDr Bülent UYANIKDokuz Eylul University School of Medicine, Department of Medical Genetics, İzmirScoliosis is defined as a lateral curvature of the spine in coronal plane, with bigger than ten degree angle (measured as Cobb angle in plain radiograph). Overall population prevalance is quite high as 3% and 85% of the cases has no etiological cause and termed as 'idiopathic'. Appear most frequently in puberty ages, between ten and 20 years old. Both sexes are affected equally but progression can occur ten times frequent in girls. With high concordance in twin studies and epidemiological studies on pedigrees of patient with scoliosis reflect an important genetic effect with poligenetic inheritance.Vitamin D receptor gene has regulatory effect on bone tissue and BsmI polymorphism is associated with osteopenia. Osteopenia is a classical component of Scoliosis. The aim of this study is to find association between Adolescent İdiopathic Scoliosis and Vitamin D receptor gene BsmI polymorphysism, if exist.Unrelated 45 female and seven male (totally 52) patients who were diagnosed as Adolescent İdiopathic Scoliosis and 46 female and seven male (totally 53) volunteer controls composed two investigated groups. All case's BsmI genotype were determined by strip test using genomic DNA isolated from peripheral blood.Distribution of genotypes of patients in percentage were bb 25%, Bb 59,6%, BB 15,4%while control group's were bb 25%, Bb 59,6%, BB 15,4%. Chi-square value which was index for significancy of genotype frequency diffrerences of two groups was 6,35 and p value: 0,0417.The results revealed that, there maybe an association between Adolescent İdiopathic Scoliosis and Vitamin D receptor gene BsmI polymorphysism, Bb genotype.