中国绝经后骨质疏松症女性的基因变异与唑来膦酸治疗反应
Gene Variants and Response to Zoledronic Acid Treatment in Chinese Women with Postmenopausal Osteoporosis.
作者信息
Lin Haiqing, Li Jin, Xu Zhonghua, Liu Ting, Zhou Xindie
机构信息
Department of Orthopedic Surgery, the Second Affiliated Hospital of Jiaxing University, Jiaxing, 314000, People's Republic of China.
Department of Orthopedics, Jintan Hospital Affiliated to Jiangsu University, Changzhou, 213200, People's Republic of China.
出版信息
Pharmgenomics Pers Med. 2021 Jul 13;14:859-866. doi: 10.2147/PGPM.S315404. eCollection 2021.
PURPOSE
Alpha-L-iduronidase (IDUA) rs3755955 and rs6831280 polymorphisms have been demonstrated to be associated with bone mineral density (BMD). However, no study has investigated the association of these two polymorphisms with osteoporosis (OP) susceptibility in Chinese postmenopausal women.
PATIENTS AND METHODS
gene polymorphisms were genotyped in 278 women with OP and 303 healthy controls via polymerase chain reaction and Sanger sequencing.
RESULTS
Our data indicated that IDUA rs3755955 and rs6831280 polymorphisms increased the risk of OP in homozygous, dominant, and allelic models. We observed lower lumbar spine BMD in younger women with the AA genotype of rs3755955 polymorphism. Finally, mutant genotypes with rs6831280 polymorphism were more sensitive to zoledronic acid treatment, and the treatment effect was significant in terms of BMD levels.
CONCLUSION
In conclusion, IDUA rs3755955 and rs6831280 polymorphisms demonstrated susceptibility to OP in Chinese postmenopausal women. IDUA rs6831280 polymorphism caused differences in response to zoledronic acid treatment.
目的
已证实α-L-艾杜糖醛酸酶（IDUA）rs3755955和rs6831280基因多态性与骨密度（BMD）相关。然而，尚无研究调查这两种多态性与中国绝经后女性骨质疏松症（OP）易感性的关系。
患者与方法
通过聚合酶链反应和桑格测序对278例OP女性患者和303例健康对照者进行基因多态性基因分型。
结果
我们的数据表明，IDUA rs3755955和rs6831280基因多态性在纯合子、显性和等位基因模型中增加了OP风险。我们观察到rs3755955基因多态性AA基因型的年轻女性腰椎骨密度较低。最后，rs6831280基因多态性的突变基因型对唑来膦酸治疗更敏感，且在骨密度水平方面治疗效果显著。
结论
总之，IDUA rs3755955和rs6831280基因多态性表明中国绝经后女性对OP易感。IDUA rs6831280基因多态性导致对唑来膦酸治疗的反应存在差异。
Zotero 插件