Abstract:

BACKGROUND: Osteoporosis is a polygenic disease, and the peak bone mass and bone mass loss are significantly determined by genetics factors.
OBJECTIVE: To determine the genotype frequencies of Vitamin D receptor gene ApaⅠ polymorphism and its association with osteoporosis of han population in Shandong Peninsula, and then to approach the predisposing factors of primary osteoporosis.
METHODS: A total of 367 han people coming from unrelated familes who lived in Shandong Peninsula for many years were selected. The subjects were divided into normal bone mineral density group (n=227), osteoporosis group (n=63) and ospteoporosis with osteoporotic fracture group (n=77).
RESULTS AND CONCLUSION: The genotype frequency distribution of Vitamin D receptor gene followed the Hardy-Weinberg equilibrium (χ² =1.583, P > 0.05). The frequency distribution of genotypes aa, Aa and AA were 53.1%, 10.6 % and 36.3%, respectively. Body mass index had significant positive correlation with bone mineral density (P < 0.01), while age had significant negative correlation with bone mineral density (P < 0.01). People with aa genotype had significant lower bone mineral density in lumbar spine and ward’s triangle (P < 0. 05) after correcting the body mass index and age. According to χ² test, there was no significant difference between osteoporotic fracture group and normal control group (χ² =4.795,P > 0.05). The experimental results show that there is possible correlation between polymorphisms of restriction sites in Vitamin D receptor gene Apa Ⅰ and bone mineral density in han people of Shandong Peninsula. It indicates that the restriction site polymorphisms of Apa Ⅰ gene may be used as genetic markers in predicting the risk of developing osteoporosis.