绝经后2型糖尿病LRP5基因多态性与骨量异常的研究  

The significance of polymorphisms and mutations in the LRP5 rs556442 and rs312778 locus genes in postmenopausal women with type 2 diabetes mellitus in the context of bone mass abnormalities

作　　者：黎娅 李军[1] 李思源[2] 王曦龄 卢韵秋 李子昕 LI Ya;LI Jun;LI Siyuan;WANG Xiling;LI Zixin;LU Yunqiu(The First Affiliated Hospital of Medical College of Shihezi University,Shihezi 832000,China;Medical College of Shihezi University,Shihezi 832000,China;Loudi Central Hospital of Hunan Province,Loudi 417600,China)

机构地区：[1]石河子大学第一附属医院,新疆石河子832000 [2]石河子大学医学院,新疆石河子832000 [3]湖南省娄底市中心医院,湖南娄底417600

出　　处：《中国骨质疏松杂志》2024年第2期210-215,共6页Chinese Journal of Osteoporosis

基　　金：石河子大学2022年度兵团指导性科技计划项目(2022ZD044);兵团科技局重点领域科技攻关项目(2021AB031);石河子大学国际科技合作推广计划(GJHZ202206)。

摘　　要：目的分析低密度脂蛋白受体相关蛋白5(low density lipoprotein receptor related protein 5,LRP5)rs556442、rs312778位点基因多态性及突变在绝经后女性2型糖尿病(type 2 diabetes mellitus,T2DM)患者中骨量异常的意义。方法收集2021年5月至2023年5月新疆石河子地区的142例绝经后女性资料进行回顾性分析,分为正常对照组(A组,n=29)、T2DM组(B组,n=30)、骨量降低组(C组,n=28)、骨量降低+T2DM组(D组,n=55)。收集记录相关基线资料,运用全自动生化测定仪测定受试者血糖、血脂及骨代谢指标。通过双能X线骨密度仪测定骨密度(bone mineral density BMD),LRP5基因位点多态性采用飞行时间质谱法(MALDI-TOF-MS)测定,采用SNPscan技术对上述SNP位点进行基因分型。结果①四组基线资料比较,绝经年限、年龄及腰臀比(waist hip ratio,WHR)比较差异具有统计学意义(P<0.05);②与A组相比,B组的空腹血糖(FPG)、糖化血红蛋白(HbA1c)升高(P<0.05);D组的FPG、HbA1c的血清学水平升高,甘油三酯(TG)血清学水平降低(P<0.05);③rs556442位点:与A组相比,D组基因型分布(AA/AG/GG基因型)有统计学意义(P<0.05);rs312778位点组间基因型(CC/CT/TT基因型)及等位基因分布频率均无统计学意义(P>0.05);④rs556442位点:与AA基因型相比,B、C组AG/GG基因型的股骨颈BMD水平降低;D组AG/GG型的HDL血清学水平降低(P<0.05)。rs312778位点:与CC基因型相比,A组HbA1C、FPG血清学水平较CT/TT基因型低(P<0.05);D组CT/TT基因型的低密度脂蛋白(LDL)血清学水平升高(P<0.05);⑤多元线性回归分析:rs556442位点,TG增加是腰L_(1~4)BMD降低的危险因素(P<0.05);rs312778位点,体质量指数(body mass index,BMI)降低是腰L_(1~4)及股骨颈BMD降低的危险因素,TG增加是腰L_(1~4)BMD降低的危险因素(P<0.05);⑥在rs556442、rs312778位点骨量异常与基因型分布均无统计学意义(P>0.05)。结论新疆石河子地区绝经后T2DM女性患者LRP5基因rs556442、rs312778基因位�Objective To analyze the significance of polymorphisms and mutations at the rs556442 and rs312778 loci of low density lipoprotein receptor related protein 5 in the bone mass abnormalities of postmenopausal women with type 2 diabetes mellitus patients with abnormal bone mass.Methods The data of 142 postmenopausal women in Shihezi region of Xinjiang from May 2021 to May 2023 were collected and analyzed retrospectively;they were divided into four groups,namely,the normal control group(Group A,n=29),the T2DM group(Group B,n=30),the group with reduced bone mass(Group C,n=28),and the group with reduced bone mass+T2DM(Group D,n=55).Relevant baseline data were collected and recorded,and fully automated biochemical assay instrument was used to determine sugar,lipid and bone metabolism indexes.Bone mineral density was measured by dual-energy X-ray,and the polymorphism of LRP5 gene locus was determined by time-of-flight mass spectrometry.Results①Compared with the baseline data of the four groups,there were statistically significant differences in menopausal years,age and waist-hip ratio(P<0.05);②Compared with Group A,Group B had higher fasting blood glucose and glycosylated hemoglobin(P<0.05);Group D had higher serological levels of FPG and HbA1c,and lower serological levels of TG(both P<0.05);③At rs556442,there was a statistically significant difference in the distribution of genotypes in Group D compared with Group A(P<0.05);there was no statistically significant difference in the distribution of genotypes and allele frequencies between groups at rs312778(P>0.05);④The rs556442 locus:compared with the AA type,the BMD level of the femoral neck of the AG/GG type was lower in Groups B and C;the serological level of HDL of the AG/GG type was lower in Group D(P<0.05).rs312778 locus:compared with the CC type,the serological level of HbA1C and FPG of Group A was lower than that of the CT/TT type(P<0.05);the LDL serological level of Group D was lower than that of the CT/TT type(P<0.05)of Group D had elevated serologic leve

关 键 词：低密度脂蛋白受体相关蛋白5 绝经女性 基因突变 骨量异常 

分 类 号：R587.1[医药卫生—内分泌]