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LRP5基因多态性(rs556442)对伊朗儿童钙稳态、骨密度和身体成分的影响。

The impact of LRP5 polymorphism (rs556442) on calcium homeostasis, bone mineral density, and body composition in Iranian children.

作者信息

Ashouri Elham, Meimandi Elham Mahmoodi, Saki Forough, Dabbaghmanesh Mohammad Hossein, Omrani Gholamhossein Ranjbar, Bakhshayeshkaram Marzieh

机构信息

Shiraz Endocrinology and Metabolism Research Center, Nemazee Hospital, Shiraz University of Medical Sciences, Shiraz, Iran.

Shiraz Institute for Cancer Research (ICR), Shiraz University of Medical Sciences, Shiraz, Iran.

出版信息

J Bone Miner Metab. 2015 Nov;33(6):651-7. doi: 10.1007/s00774-014-0624-4. Epub 2014 Dec 17.

Abstract

Failure to achieve optimal bone mass in childhood is the primary cause of decreased adult bone mineral density (BMD) and increased bone fragility in later life. Activating and inactivating LRP5 gene mutations has been associated with extreme bone-related phenotypes. Our aim was to investigate the role of LRP5 polymorphism on BMD, mineral biochemical parameters, and body composition in Iranian children. This cross-sectional study was performed on 9-18 years old children (125 boys, 137 girls). The serum level of calcium, phosphorous, alkaline phosphatase, and vitamin D parameters were checked. The body composition and BMD variables were measured by the Hologic system DXA. The rs566442 (V1119V) coding polymorphism in exon 15 of LRP5 was performed using PCR-RFLP method. Linear regression analysis, with adjustment for age, gender, body size parameters, and pubertal status was used to determine the association between LRP5 polymorphism (rs556442) and bone and body composition parameters. The allele frequency of the rs566442 gene was 35.5 % A and 63.9 % G. Our study revealed that LRP5 (rs556442) has not any significant influence on serum calcium, phosphorus, 25OHvitD, and serum alkaline phosphatase (P > 0.05). Total lean mass was greater in GG genotype (P = 0.028). Total body less head area (P = 0.044), spine BMD (P = 0.04), and total femoral BMC (P = 0.049) were lower in AG heterozygote genotype. This study show LRP5 polymorphism may associate with body composition and BMD in Iranian children. However, further investigations should be done to evaluate the role of other polymorphism.

摘要

儿童期未能达到最佳骨量是成年后骨矿物质密度(BMD)降低和晚年骨脆性增加的主要原因。LRP5基因的激活和失活突变与极端的骨相关表型有关。我们的目的是研究LRP5基因多态性对伊朗儿童骨密度、矿物质生化参数和身体成分的作用。这项横断面研究针对9至18岁的儿童(125名男孩,137名女孩)进行。检测了血清钙、磷、碱性磷酸酶和维生素D参数水平。使用Hologic系统双能X线吸收仪测量身体成分和骨密度变量。采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法检测LRP5第15外显子的rs566442(V1119V)编码多态性。采用线性回归分析,并对年龄、性别、身体尺寸参数和青春期状态进行校正,以确定LRP5多态性(rs556442)与骨和身体成分参数之间的关联。rs566442基因的等位基因频率为A占35.5%,G占63.9%。我们的研究表明,LRP5(rs556442)对血清钙、磷、25羟维生素D和血清碱性磷酸酶没有任何显著影响(P>0.05)。GG基因型的总瘦体重更大(P=0.028)。AG杂合子基因型的全身除头部面积(P=0.044)、脊柱骨密度(P=0.04)和总股骨骨矿含量(P=0.049)较低。这项研究表明,LRP5基因多态性可能与伊朗儿童的身体成分和骨密度有关。然而,应进一步开展研究以评估其他多态性的作用。

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