Association between osteoporosis and polymorphisms of the bone Gla protein, estrogen receptor 1, collagen 1-A1 and calcitonin receptor genes in Turkish postmenopausal women |
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Authors: | Sengul Tural Nurten Kara Gamze Alayli Leman Tomak |
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Affiliation: | 1. Ondokuz Mayis University, Faculty of Medicine, Dept. of Medical Biology and Genetics, Samsun, Turkey;2. Ondokuz Mayis University, Faculty of Medicine, Dept. of Physical Medicine and Rehabilitation, Samsun, Turkey;3. Ondokuz Mayis University, Faculty of Medicine, Dept. of Biostatistics, Samsun, Turkey |
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Abstract: | 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, ER1 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% CI (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% CI (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). |
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Keywords: | BGLAP, osteocalcin bone Gla protein ER1, estrogen receptor 1 Col1A1, collagen type1 alpha 1 CALCR: CTR, calcitonin receptor PCR, polymerase chain reaction RFLP, restriction fragment length polymorphism IOF, Osteoporosis Foundation DEXA, dual energy X-ray absorptiometry SNP, single nucleotide polymorphism BMI, body mass index WHO, World Health Organization SD, standard deviation Cis, confidence intervals OP, osteoporosis |
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