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LRP5 基因 rs7125942 和 rs3736228 多态性与突变与绝经后妇女骨代谢的关系。

Relationship between polymorphisms and mutations at rs7125942 and rs3736228 of LRP5 gene and bone metabolism in postmenopausal women.

机构信息

Department of Endocrinology and Metabolism, The First Affiliated Hospital, Shihezi University, Shihezi, 832002, Xinjiang, China.

Medical School of Shihezi University, Shihezi, 832002, China.

出版信息

J Orthop Surg Res. 2024 Feb 1;19(1):104. doi: 10.1186/s13018-024-04579-1.

DOI:10.1186/s13018-024-04579-1
PMID:38302983
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10832214/
Abstract

OBJECTIVE

To analyze the relationship between the polymorphism and mutation of rs7125942 and rs3736228 locus in the low-density lipoprotein receptor-related protein 5 (LRP5) genotype and bone mineral density (BMD) in postmenopausal women in Xinjiang, China, to provide a basis for prevention and treatment of the disease.

METHODS

According to the results of dual-energy X-ray (DEXA) determination of BMD, the 136 subjects were divided into three groups: Group A: normal bone mass, Group B: osteopenia, Group C: osteoporosis. 1. Age, body, mass index (BMI), and menopause of all subjects were recorded. 2. Fasting blood glucose (FBG), glycosylated hemoglobin (HbA1c), calcium (Ca), phosphorus (P), alkaline phosphatase (ALP), and clinical biochemical data were determined. 3. LRP5 locus polymorphisms were determined by time-of-flight mass spectrometry.

RESULTS

  1. Compared with group A, the age, ALP, Cr, and BUN levels in group B and group C were increased, but UA levels were lower (P < 0.05), and Serum P was higher in the group C (P < 0.05). 2. There was no statistically significant difference in the prevalence of diabetes between the three groups (P > 0.05). 3. The ROC curves for different BMD sites such as L1, L2, L3, L4, L total, and femoral neck were 0.929, 0.955, 0.901, 0.914, 0.885, and 0.873 (P < 0.01). 4. At rs7125942 locus, there was statistically significant difference in the distribution of wild-type (CC) and mutant (CG) with the normal bone mass (NBM) group and the abnormal bone mass (ABM) group (P < 0.05). 5. At rs7125942 locus, compared with wild-type (CC), mutant (CG) had lower LDL and FPG in NBM group (P < 0.05), and lower serum ALP in the ABM group (P < 0.05). At rs3736228 locus, the BMD (Femoral neck) of mutant (CT/TT) was lower than that of wild-type (CC) in the NBM group (P < 0.05). 6. Age and menopausal years were negatively correlated with BMD of the femoral neck and L1-4 (P < 0.05), and BMI and TG were positively (P < 0.05), and the results of multiple linear regression analysis showed that age, BMI, and TG were both independent factors affecting BMD (P < 0.05).
摘要

目的

分析中国新疆绝经后妇女低密度脂蛋白受体相关蛋白 5(LRP5)基因 rs7125942 和 rs3736228 位点多态性与突变与骨密度(BMD)的关系,为疾病的防治提供依据。

方法

根据双能 X 线(DEXA)测定 BMD 的结果,将 136 例患者分为三组:A 组:正常骨量;B 组:骨量减少;C 组:骨质疏松症。1. 记录所有患者的年龄、体重、体重指数(BMI)和绝经情况。2. 检测空腹血糖(FBG)、糖化血红蛋白(HbA1c)、钙(Ca)、磷(P)、碱性磷酸酶(ALP)和临床生化数据。3. 采用飞行时间质谱法检测 LRP5 基因座的多态性。

结果

  1. 与 A 组相比,B 组和 C 组的年龄、ALP、Cr 和 BUN 水平升高,而 UA 水平降低(P<0.05),C 组的血清 P 水平升高(P<0.05)。2. 三组之间糖尿病的患病率无统计学差异(P>0.05)。3. 不同 BMD 部位(L1、L2、L3、L4、L 总、股骨颈)的 ROC 曲线分别为 0.929、0.955、0.901、0.914、0.885 和 0.873(P<0.01)。4. 在 rs7125942 位点,野生型(CC)和突变型(CG)与正常骨量(NBM)组和异常骨量(ABM)组的分布存在统计学差异(P<0.05)。5. 在 rs7125942 位点,与野生型(CC)相比,突变型(CG)在 NBM 组中 LDL 和 FPG 较低(P<0.05),ABM 组中血清 ALP 较低(P<0.05)。在 rs3736228 位点,突变型(CT/TT)的 BMD(股骨颈)低于 NBM 组中的野生型(CC)(P<0.05)。6. 年龄和绝经年数与股骨颈和 L1-4 的 BMD 呈负相关(P<0.05),BMI 和 TG 呈正相关(P<0.05),多元线性回归分析结果表明,年龄、BMI 和 TG 均为影响 BMD 的独立因素(P<0.05)。
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3509/10832214/2ab8be266df6/13018_2024_4579_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3509/10832214/1a8bfa19d682/13018_2024_4579_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3509/10832214/2ab8be266df6/13018_2024_4579_Fig2_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3509/10832214/1a8bfa19d682/13018_2024_4579_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3509/10832214/2ab8be266df6/13018_2024_4579_Fig2_HTML.jpg

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