LRP5基因A1330V、Q89R位点多态性、突变与绝经后T2DM骨质疏松症的关系
Study on the relationship between locus polymorphism and mutation in low-density lipoprotein receptor-related protein 5 gene A1330V and Q89R and type 2 diabetes patients with postmenopausal osteoporosis
  
DOI:10.3969/j.issn.1006-7108.2021.09.010
中文关键词:  低密度脂蛋白受体相关蛋白5  A1330V  Q89R  绝经后  2型糖尿病  骨质疏松症
英文关键词:low-density lipoprotein receptor-related protein 5  A1330V  Q89R  postmenopausal  type 2 diabetes  osteoporosis
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作者单位
何跃辉 陈狄* 高谦 施平华 金辉 冯艳苹 尤丛蕾 汤莉娜 北京积水潭医院北京 100035 
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中文摘要:
      目的 研究低密度脂蛋白受体相关蛋白5(LRP5)基因A1330V、Q89R位点多态性及突变与绝经后2型糖尿病(T2DM)伴骨质疏松症(OP)的关系。方法 选取我院门诊81例绝经后T2DM患者,根据是否伴OP分为T2DM伴OP组39例,T2DM组42例,单纯OP组40例,同期体检中心绝经后健康女性40例为对照组,应用基因测序技术检测LRP5基因A1330V、Q89R位点多态性。结果 T2DM伴OP组HbAIC、FINS高于对照组,腰L2-4 BMD、股骨颈BMD低于对照组;T2DM组HbAIC、FINS高于对照组,差异有统计学意义(P<0.05)。T2DM伴OP组、T2DM组和OP组LRP5基因A1330V位点AA型、AV型、VV型构成与对照组比较差异有统计学意义(P<0.05)。各组LRP5基因Q89R位点基因型分布差异无统计学意义(P>0.05)。T2DM伴OP组LRP5基因A1330V位点AA型、AV型、VV型HbAIC、腰L2-4BMD、股骨颈BMD差异均有统计学意义(P<0.05)。AA型、AV型、VV型TRACP-5b、BALP、FINS比较差异均无统计学意义(P>0.05)。结论 LRP5基因可能是绝经后女性T2DM和OP的易感基因,A1330V位点多态性、突变对绝经后女性T2DM和OP的发生有影响。
英文摘要:
      Objective To study the relationship between polymorphism and mutation in low-density lipoprotein receptor-related protein 5 (LRP5) gene A1330V and Q89R and type 2 diabetes (T2DM) patinets with postmenopausal osteoporosis (OP). Methods A total of 81 postmenopausal T2DM patients in the outpatient department of our hospital were selected. According to whether they were associated with OP, they were divided into T2DM with OP group, with 39 cases, T2DM group, with 42 cases, and OP alone group, with 40 cases. Forty postmenopausal healthy women in the physical examination center during the same period were as the control group. Gene sequencing technology was used to detect the polymorphism of LRP5 gene A1330V and Q89R. Results HbAIC and FINS in the T2DM with OP group were higher than those in the control group, while the waist L2-4 BMD and femoral neck BMD were lower than those of the control group. HbAIC and FINS in the T2DM group were higher than those in the control group, and the difference was statistically significant (P<0.05). The AA type, AV type, and VV type composition at A1330V site of LRP5 gene in T2DM with OP group, T2DM group, and OP group were statistically significant compared to those in the control group (P <0.05). There was no significant difference in the genotype distribution at the Q89R locus of LRP5 gene between each group (P>0.05). The differences of AA type, AV type, and VV type at A1330V locus of LRP5 gene, HbAIC, waist L2-4 BMD, and femoral neck BMD in T2DM with OP group were statistically significant (P <0.05). There was no significant difference among AA, AV, VV, TRACP-5b, BALP, and FINS (P>0.05). Conclusion LRP5 gene may be a susceptibility gene for T2DM and OP in postmenopausal women. Polymorphism and mutation at the A1330V locus may affect the occurrence of T2DM and OP in postmenopausal women.
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