Sp1 Binding Site Polymorphism at COL1A1 Gene and Its Relation to Bone Mineral Density for Osteoporosis Risk Factor Among the Sikkimese Men and Women of Northeast India

Indian journal of clinical biochemistry

article

Deepa Soibam¹  T. A. Singh¹  Parvati Nandy²  Sunder Kishore Dewan³  Ankur Baruah⁴ 

[1] Department of Biochemistry, Sikkim Manipal Institute of Medical Sciences;Department of Medicine, Sikkim Manipal Institute of Medical Sciences;Department of Orthopedics, Sikkim Manipal Institute of Medical Sciences;North East Medical Care Hospital and Research Centre

关键词: Bone mineral density (BMD) Collagen type I alpha 1 (COLIA1) Osteoporosis Sp1 polymorphism;   

DOI  :  10.1007/s12291-017-0728-4

来源: Springer

【 摘 要 】

Single nucleotide polymorphism in the first intron of Collagen type I alpha 1 (COL1A1) gene which is the binding site of specificity protein 1 (Sp1) transcription factor associated with low bone mineral density and osteoporosis. To evaluate such genetic factors among the Sikkimese population, a total of 150 cases (75 men and 75 women) with primary osteopenia and osteoporosis and 150 healthy controls (75 men and 75 women) of age range between 35 and 65 years were enrolled in this study. The COL1A1 genotypes [SS, Ss and ss] were assessed by restriction enzyme [MscI] digestion of DNA after amplification by polymerase chain reaction. There, only 2.7% women and 1.3% men cases had restriction site with heterozygous genotype (Ss) and no homozygous genotype (ss) were detected. There was no statistically significant association between low bone mass and genotypes on analysis (χ2 = 1.014, P = 0.314; RR = 1.510) that, the Sp1 binding site polymorphism at the COLIA1 gene is very rare and has no contribution in the development low bone mineral density.

【 授权许可】

Unknown