Geng Li, Yao Zhen-Wei, Luo Jian-Yun, Han Li-Li, Lu Qi
Department of Obstetrics and Gynecology, the First Affiliated Hospital, Chongqing Medical University, Chongqing 400016, China.
Yi Chuan. 2007 Nov;29(11):1345-50. doi: 10.1360/yc-007-1345.
We investigated the association of the G/A polymorphism at Val80 of the cytochrome P450 family 19 (CYP19) gene, the A163G polymorphism of the osteoprotegerin (OPG) gene with bone mineral density (BMD) in 200 randomly selected postmenopausal women in Chongqing. Single nucleotide polymorphisms were detected by polymerase chain reac-tion-restriction fragment length polymorphism (PCR-RFLP). BMD of the proximal femur and lumbar spine (L2-4) was measured by NORLAND XR-46 dual-energy X-ray absorptiometer (DEXA). The frequencies of genotypes in these women were as follows: GG (19.5), GA (44.5%), AA (36.0%) for the Val80 polymorphism in CYP19; and AA (13.0%), AG (42.0%), GG (45.0%) for the A163G polymorphism in OPG. The distribution of genotype frequency was in Hardy-Weinberg equilibrium (P0.05). ANCOVA and multiple stepwise regression analysis showed the Val80 polymor-phism in the third exon of the CYP19 gene was not associated with the BMD in postmenopausal women (P0.05). Except for the trochanter region, BMD at the femoral neck, Ward's triangle, and L2-4 was lower in subjects with AG/GG/AG+GG genotypes than those with the AA genotype for the A163G polymorphism and A163G genotypes were associated with BMD at these skeletal regions in postmenopausal women (P0.05). A163G polymorphism resides in the promoter region of the OPG gene and its genotype distribution is significantly different among different ethnic groups. Our results indicate that the AA genotype might have some beneficial effect on BMD and the variant G allele might reduce BMD in postmenopausal women.
我们在重庆随机选取200名绝经后女性,研究细胞色素P450家族19(CYP19)基因第80位缬氨酸(Val80)的G/A多态性、骨保护素(OPG)基因的A163G多态性与骨密度(BMD)之间的关联。采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)检测单核苷酸多态性。使用NORLAND XR-46双能X线吸收仪(DEXA)测量股骨近端和腰椎(L2-4)的骨密度。这些女性的基因型频率如下:CYP19基因Val80多态性的GG(19.5%)、GA(44.5%)、AA(36.0%);OPG基因A163G多态性的AA(13.0%)、AG(42.0%)、GG(45.0%)。基因型频率分布符合Hardy-Weinberg平衡(P>0.05)。协方差分析和多元逐步回归分析显示,CYP19基因第三外显子的Val80多态性与绝经后女性的骨密度无关(P>0.05)。对于A163G多态性,除转子区外,AG/GG/AG+GG基因型受试者股骨颈、Ward三角区和L2-4的骨密度低于AA基因型受试者,且A163G基因型与绝经后女性这些骨骼部位的骨密度相关(P<0.05)。A163G多态性位于OPG基因启动子区域,其基因型分布在不同种族之间存在显著差异。我们的结果表明,AA基因型可能对骨密度有一些有益作用,而变异的G等位基因可能会降低绝经后女性的骨密度。