长春市汉族女性维生素D 受体基因BsmⅠ和FokⅠ 位点多态性与骨密度相关性研究

Objective To study the polymorphisms of vitamin D receptor ( VDＲ) gene BsmⅠand FokⅠin Han females aged 35- 85 years in Changchun city and to analyze their relationship with bone mineral density． Methods Polymorphisms of Bsm Ⅰand Fok Ⅰwere analyzed by PCＲ-ＲFLP，and lumbar spine ( L1-4) BMD were measured using Hologic Discovery-WA-type bone densitometer． 230 objects were grouped into postmenopausal group and premenopausal group，then we observed the distribution characteristics of each genotype． SPSS 19. 0 software was used to analyze the experimental result ． Ｒesults In the present study， the genotype distributions of BsmⅠwere bb ( 83. 9%) ，Bb ( 12. 6%) and BB ( 3. 5%) ． The b allele frequency was as high as 90. 2% and the B allele frequency was 9. 8%． The genotype distributions of FokⅠwere ff ( 18. 3%) ，Ff ( 43. 9%) and FF ( 37. 8%) ． The frequency of f allele was 40. 2% and the frequency of F allele was 59. 8%． The distribution of genotypes of both sites were in accordance with Hardy-Weinberg law ( χ2 = 1. 283，P = 0. 125; χ2 = 0. 96，P = 0. 342) ． There was no significant difference in the genotype distribution between the premenopausal group and the postmenopausal group ( P ＞ 0. 05 ) ． In both premenopausal group and postmenopausal group，BMD for each genotype of BsmⅠwas not significantly different ( P ＞ 0. 05) ． BMD of FokⅠff type was lower than that of FF type and Ff type; BMD of these three genotypes was not significantly different in the premenopausal group ( P ＞ 0. 05) ，but BMD of ff type was lower than that of FF type in postmenopausal group ( P ＜ 0. 05) ． Conclusion In this study in 230 Han women aged 35 to 85 years，the distribution of BsmⅠgenotype was mainly bb，the b allele frequency was as high as 90. 2%，and there was no significant difference in BMD between each genotype; FokⅠff type had lower BMD，but there was no significant difference in the premenopausal group，and in postmenopausal women ff type was associated with lower BMD． [ABSTRACT FROM AUTHOR]