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维生素D受体等位基因、绝经后骨质疏松症女性和健康女性的骨矿物质密度及骨转换

Vitamin D receptor alleles, bone mineral density and turnover in postmenopausal osteoporotic and healthy women.

作者信息

Duman Belgin Süsleyici, Tanakol Refik, Erensoy Nevin, Oztürk Melek, Yilmazer Selma

机构信息

Department of Medical Biology and Genetics, Kadir Has University Medical Faculty, Gayrettepe-Istanbul, Turkey.

出版信息

Med Princ Pract. 2004 Sep-Oct;13(5):260-6. doi: 10.1159/000079524.

Abstract

OBJECTIVE

Vitamin D receptor (VDR) gene polymorphisms and bone metabolic markers were investigated as potential genetic markers for osteoporosis in postmenopausal Turkish women. The relationship between their VDR gene polymorphisms and bone states was determined.

MATERIALS AND METHODS

Restriction fragment length polymorphisms at the VDR gene locus (i.e., for BsmI, ApaI, and TaqI) was investigated in 75 postmenopausal osteoporotic (53.16 +/- 1.31 years) and 66 healthy (52.62 +/- 1.69 years) Turkish women and the genotypes were related to bone mineral density (BMD) at femoral neck (FN), lumbar spine (L1-4), trochanter, Ward's triangle (Ward's) and metabolic parameters of bone turnover.

RESULTS

In osteoporotic women, TaqI genotype-related differences of the VDR gene were found to be significant at all BMD sites; TT genotype had higher L1-4 BMD values than Tt and tt (p < 0.05); tt genotype had significantly lower BMD at FN (p < 0.05), trochanter (p < 0.01), and Ward's (p < 0.05) compared to TT genotype. The tt genotype was found to be associated with higher (p < 0.05) serum osteocalcin levels compared to Tt and TT genotypes in the osteoporotic women, whereas no such association was found for the healthy women.

CONCLUSION

Our data showed an association between VDR TaqI genotype and BMD at the FN, L1-4, trochanter and Ward's triangle in nonobese postmenopausal osteoporotic women. Thus the VDR gene Taql polymorphism modulates differences in BMD in the postmenopausal osteoporotic women.

摘要

目的

研究维生素D受体(VDR)基因多态性和骨代谢标志物作为土耳其绝经后女性骨质疏松症潜在遗传标志物的情况。确定其VDR基因多态性与骨状态之间的关系。

材料与方法

对75名绝经后骨质疏松症土耳其女性(53.16±1.31岁)和66名健康土耳其女性(52.62±1.69岁)的VDR基因位点(即BsmI、ApaI和TaqI)的限制性片段长度多态性进行研究,并将基因型与股骨颈(FN)、腰椎(L1-4)、转子、Ward三角区(Ward's)的骨密度(BMD)以及骨转换的代谢参数相关联。

结果

在骨质疏松症女性中,发现VDR基因的TaqI基因型相关差异在所有BMD位点均具有统计学意义;TT基因型的L1-4 BMD值高于Tt和tt基因型(p<0.05);与TT基因型相比,tt基因型在FN(p<0.05)、转子(p<0.01)和Ward's(p<0.05)处的BMD显著较低。在骨质疏松症女性中,发现tt基因型与Tt和TT基因型相比血清骨钙素水平较高(p<0.05),而在健康女性中未发现这种关联。

结论

我们的数据显示,在非肥胖绝经后骨质疏松症女性中,VDR TaqI基因型与FN、L1-4、转子和Ward三角区的BMD之间存在关联。因此,VDR基因TaqI多态性调节绝经后骨质疏松症女性的BMD差异。

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