Association between osteoporosis and polymorphisms of the bone Gla protein, estrogen receptor 1, collagen 1-A1 and calcitonin receptor genes in Turkish postmenopausal women

Tural Ş., Kara N., Alaylı G., Tomak L.

GENE, cilt.515, sa.1, ss.167-172, 2013 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 515 Sayı: 1
  • Basım Tarihi: 2013
  • Doi Numarası: 10.1016/j.gene.2012.10.041
  • Dergi Adı: GENE
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.167-172
  • Anahtar Kelimeler: BGLAP, ER1, COL1A1, CALCR, Polymorphism, Osteoporosis, SP1 BINDING-SITE, HUMAN OSTEOCALCIN GENE, MINERAL DENSITY, CHINESE WOMEN, JAPANESE WOMEN, ALPHA GENE, COL1A1, FRACTURE, VDR, BMD
  • Ondokuz Mayıs Üniversitesi Adresli: Evet

Özet

In this study, we have investigated the association between osteoporosis and osteocalcin (BGLAP) -298 C>T, estrogen receptor 1 (ER1) 397 T>C, collagen type1 alpha 1 (Col1A1) 2046 G>T and calcitonin receptor (CALCR) 1340 T>C polymorphisms. Genomic DNA was obtained from 266 persons (158 osteoporotic and 108 healthy controls). Genomic DNA was extracted from EDTA-preserved peripheral venous blood of patients and controls by a salting-out method and analyzed by PCR-RFLP. As a result, there was no statistically significant difference in the genotype and allele frequencies of patients and controls for BGLAP -298 C>T, Col1A1 2046 G>T, ER1 397 T>C and CALCR 1340 T>C polymorphisms. However, ER! CC genotype compared with TT + TC genotypes was found to increase the two fold the risk of osteoporosis [p = 0.039, OR = 2.156, 95% CI (1.083-4.293)] and CALCR CC genotype compared with TT + TC genotypes was found to have protective effect against osteoporosis [p = 0.045, OR = 0.471, 95% Cl (0.237-0.9372)]. In the combined genotype analysis, ER1/CALCR TCCC combined genotype was estimated to have protective effect against osteoporosis [p = 0.0125, OR= 0.323, 95% Cl (0.1383-0.755)] whereas BGLAP/Col1A1 CCTT and ER1/CALCR CCTT combined genotypes were estimated as risk factors for osteoporosis in Turkish population (p = 0.027, p = 0.009 respectively). (C) 2012 Elsevier B.V. All rights reserved.