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首页> 外文期刊>Gynecological endocrinology: the official journal of the International Society of Gynecological Endocrinology >VDR, RANKL and OPG polymorphisms as possible predisposing cofactors of postmenopausal osteoporosis: explorative study in Italian population
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VDR, RANKL and OPG polymorphisms as possible predisposing cofactors of postmenopausal osteoporosis: explorative study in Italian population

机译：VDR，RankL和OPG多态性尽可能促进绝经后骨质疏松症的辅助因子：意大利人口的探索性研究

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摘要

Postmenopausal osteoporosis (PO) has a strong genetic component. Presently, the published evidence on the association between the main single-nucleotide polymorphisms (SNPs) of the receptor activator of nuclear factor-kb ligand (RANKL), osteoprotegerin (OPG) and vitamin D receptor (VDR) and bone mass density (BMD) are scarce, mostly considering Italian population. This study sought to determine whether OPG (rs2073618), RANKL (rs9525641) and the VDR (rs2228570) SNPs were associated with BMD in a sample of 139 North-Italian postmenopausal women. The allelic distribution of rs9525641 in women with PO or osteopenia (OP+OPE group) differed from controls (p<0.05), suggesting that this allele might confer a greater susceptibility to bone resorption. Concerning rs2228570, CC genotype was associated with OP+OPE women, with a worst total hip BMD. Notably, the combined genotype RANK (CT)-VDR (TT) was significantly associated to spine BMD (p<0.05). In conclusion, this pilot study showed that rs9525641 and rs2228570 polymorphisms might contribute, separately or in combination, in determining BMD phenotype in selected postmenopausal populations.
机译：绝经后骨质疏松症（PO）具有强大的遗传组分。目前，发表了关于核因子-Kb配体（RANKL），骨盆素（OPG）和维生素D受体（VDR）和骨质量密度（BMD）的受体活化剂的主要单核苷酸多态性（SNP）之间的关联的关联稀缺，主要是考虑意大利人口。该研究寻求确定OPG（RS2073618），RANKL（RS9525641）和VDR（RS2228570）SNP是否与BMD相关联139个北意大利绝经后妇女。 PO或骨折（OP + OPE组）对妇女（OP + OPE组）的等位基因分布与对照不同（P <0.05），表明该等位基因可能会赋予骨吸收更大的易感性。关于RS2228570，CC基因型与OP + OPE女性有关，总髋关节BMD最差。值得注意的是，组合的基因型等级（CT）-VDR（TT）与脊柱BMD显着相关（P <0.05）。总之，该试点研究表明，RS9525641和RS2228570多态性可能在确定绝经后群体中的BMD表型中单独或组合贡献。

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