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Allelic Variants of Human Calcitonin Receptor, Vitamin D Receptor Start Codon and SP1 Binding Site of COL1A1: Distribution and Association with Bone Mineral Density in Adults of Han Nationality in Beijing Area

Author: ZhangZhenLin
Tutor: MengXunWu；ZhouXueZuo；XingXiaoPing
School: Peking Union Medical College , China
Course: Endocrine
Keywords: Genotype Postmenopausal women Gene polymorphism Osteoporosis Peak bone mass Beijing area Polymorphism Doctoral Dissertation Han population Frequency distribution
CLC: R580
Type: PhD thesis
Year: 2000
Downloads: 145
Quote: 0
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Abstract


Osteoporosis is a bone disease characterized by low bone mass, microarchitectural deterioration of bone tissue leading to enhanced bone fragility, and a consequent increase in fracture risk. It is one of the most common disorders of aging. Osteoporosis is a polygenic disease, and the peak bone mass and bone mass loss are significantly determined by genetics factors. Many studies investigated the relationship between polymorphism of genes relation to osteoporosis and bone mineral density (BMD) in order to demonstrate genetics markers of osteoporosis, and showed that an association of polymorphism of vitamin D receptor (VDR) with BMD in different populations. In recently, the relationship between allelic variants of human calcitonin receptor, VDR start codon (VDR SCP), and SP1 binding-site in COL1A1 and the BMD in Caucision and Japanese population were reported. However, the results had significant different in different population. The objectives were to explore the genetics basis of osteoporosis in population Beijing area. Furthermore, to investgate role of these genotypes in predisposing to osteoporosis and osteoporotic fracture.We investigated 257 citizens of Han nationality in Beijing area, including 95 helthy women aged 30-39 years, 138 postmenopausl women aged 49-87 years, 11 heathy young men aged 25-40 years and 13 old men aged 47-96 years.The genomic DNA was extracted from peripheral leukocytes, and three target fragments were amplified by polymerase chain reaction (PCR) using three pairs

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