Abstract
Objective To investigte the regularity of single nucleotide polymorphism distribution of caleitonin receptor (CTR) gene C1377T polymorphism and the relationship between polymorphism of the calcitonin receptor gene and primary osteoporosis in han nationality of Shandong penisula. Methods The ALU I polymorphism of calcitonin receptor gene was tested by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) in 290 adults and 77 osteoporosis patients with osteoporotic fracture in Shandong peninsula for many years, and the distribution of CTR genotypes wase calculated. Bone mineral density (BMD) of lumbar, femur neck, Wards and troch was measured by dual-energy X-ray absorptiometry. The relationship between BMD and polymorphism of CTR gene was analyzed. Results The frequencies distribution of Alu Ⅰ alleles and genotypes in this cohort followed the Hardy-Weinberg equilibrium (χ2 = 1. 325,P 〉 0.05). The frequency distribution of genotypes CC, CT and TT was 88.6%, 11.4% and 0% respectively. After body mass index and age were corrected, people with CC genotype had significantly higher BMD in comparison with CT genotype in lumbar ( P 〈 0.05 ) and Wards triangle ( P 〈 0. 05 ). There was no significant difference between osteoporotic fracture group and normal control group (χ2 = 1. 547 ,P 〉 0.05 ). Conclusion The most popular genotype in Han nationality of Shandong penisula is CC. It can be concluded that there is relationship between CTR geneotype and BMD in lumbar and Wards triangle area. The people with CT genotype have lower BMD. C1377T gene polymorphism may be used as a genetic marker in predicting the risk of developing osteoporosis in Han people of Shandong penisula. Key words: Osteoporosis; Calcitonin receptor; Genetic polymorphism; Bone mineral density
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