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[与衰弱相关的单核苷酸多态性的鉴定]

[Identification of single nucleotide polymorphisms related to frailty].

作者信息

Inglés Marta, Gimeno-Mallench Lucia, Mas-Bargues Cristina, Dromant Mar, Cruz-Guerrero Raquel, García-García Francisco José, Rodríguez-Mañas Leocadio, Gambini Juan, Borrás Consuelo, Viña José

机构信息

Freshage Research Group-Departamento de Fisioterapia, Universidad de Valencia, CIBERFES, INCLIVA, Valencia, España.

Freshage Research Group-Departamento de Fisiología, Universidad de Valencia, CIBERFES, INCLIVA, Valencia, España.

出版信息

Rev Esp Geriatr Gerontol. 2018 Jul-Aug;53(4):202-207. doi: 10.1016/j.regg.2017.11.003. Epub 2018 Apr 7.

Abstract

INTRODUCTION

The search for biomarkers that can lead to the early diagnosis and thus, early treatment of frailty, has become one of the main challenges facing the geriatric scientific community. The aim of the present study was to identify single nucleotide polymorphisms (SNPs) related to frailty.

MATERIAL AND METHODS

The study was conducted on 152 subjects from the Toledo Study for Healthy Aging (65 to 95 years of age), and classified as frail (n=78), and non-frail (n=74), according to Fried's criteria. After blood collection, DNA was isolated and amplified for the analysis of SNPs using Axiom Genotyping technology (Affymetrix). Statistical analyses were performed using the Plink program and library SNPassoc.

RESULTS

The results of the study showed 15 SNPs with a P<.001. Those SNPs involved in processes related to frailty, such as energy metabolism, regulation of biological processes, cell motility and integrity, and cognition are highlighted.

CONCLUSIONS

These results suggest that the genetic variations identified in frail individuals that are involved in biological processes related to frailty may be considered as biomarkers for the early detection of frailty.

摘要

引言

寻找能够实现衰弱早期诊断从而早期治疗的生物标志物,已成为老年科学界面临的主要挑战之一。本研究的目的是识别与衰弱相关的单核苷酸多态性(SNP)。

材料与方法

本研究对来自托莱多健康老龄化研究的152名受试者(年龄在65至95岁之间)进行,根据弗里德标准将其分为衰弱组(n = 78)和非衰弱组(n = 74)。采血后,使用Axiom基因分型技术(Affymetrix)分离并扩增DNA以分析SNP。使用Plink程序和SNPassoc库进行统计分析。

结果

研究结果显示15个SNP的P值小于0.001。突出显示了那些参与与衰弱相关过程的SNP,如能量代谢、生物过程调节、细胞运动和完整性以及认知。

结论

这些结果表明,在衰弱个体中鉴定出的参与与衰弱相关生物过程的基因变异可被视为早期检测衰弱的生物标志物。

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