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基于人群的与血管疾病和痴呆相关的风险多态性研究。

Population-based Study of Risk Polymorphisms Associated with Vascular Disorders and Dementia.

作者信息

Teijido Óscar, Carril Juan Carlos, Cacabelos Ramón

机构信息

EuroEspes Biomedical Research Center, Institute of Medical Science and Genomic Medicine, 15165-Bergondo, Corunna, Spain.

Genomic Medicine, Camilo José Cela University, 28692-Madrid, Spain.

出版信息

Curr Genomics. 2017 Oct;18(5):430-441. doi: 10.2174/1389202918666170608093833.

DOI:10.2174/1389202918666170608093833
PMID:29081698
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5635648/
Abstract

INTRODUCTION

Cardiovascular and neurodegenerative disorders are among the major causes of mortality in the developed countries. Population studies evaluate the genetic risk, i.e. the probability of an individual carrying a specific disease-associated polymorphism. Identification of risk polymorphisms is essential for an accurate diagnosis or prognosis of a number of pathologies.

AIMS

The aim of this study was to characterize the influence of risk polymorphisms associated with lipid metabolism, hypertension, thrombosis, and dementia, in a large population of Spanish individuals affected by a variety of brain and vascular disorders as well as metabolic syndrome.

MATERIAL & METHOD: We performed a cross-sectional study on 4415 individuals from a widespread regional distribution in Spain (48.15% males and 51.85% females), with mental, neurodegenerative, cerebrovascular, and metabolic disorders. We evaluated polymorphisms in 20 genes involved in obesity, vascular and cardiovascular risk, and dementia in our population and compared it with representative Spanish and European populations. Risk polymorphisms in ACE, AGT(235), IL6(573), PSEN1, and APOE (specially the APOE-ε4 allele) are representative of our population as compared to the reference data of Spanish and European individuals.

CONCLUSION

The significantly higher distribution of risk polymorphisms in PSEN1 and APOE-ε4 is characteristic of a representative number of patients with Alzheimer's disease; whereas polymorphisms in ACE, AGT(235), and IL6(573), are most probably related with the high number of patients with metabolic syndrome or cerebrovascular damage.

摘要

引言

心血管疾病和神经退行性疾病是发达国家主要的死亡原因。人群研究评估遗传风险，即个体携带特定疾病相关多态性的概率。识别风险多态性对于多种疾病的准确诊断或预后至关重要。

目的

本研究的目的是在大量受各种脑和血管疾病以及代谢综合征影响的西班牙人群中，描述与脂质代谢、高血压、血栓形成和痴呆相关的风险多态性的影响。

材料与方法

我们对来自西班牙广泛地区分布的4415名个体（男性占48.15%，女性占51.85%）进行了横断面研究，这些个体患有精神、神经退行性、脑血管和代谢疾病。我们评估了人群中20个与肥胖、血管和心血管风险以及痴呆相关基因的多态性，并将其与具有代表性的西班牙和欧洲人群进行比较。与西班牙和欧洲个体的参考数据相比，ACE、AGT(235)、IL6(573)、PSEN1和APOE（特别是APOE-ε4等位基因）中的风险多态性代表了我们的人群特征。

结论

PSEN1和APOE-ε4中风险多态性的显著更高分布是大量阿尔茨海默病患者的特征；而ACE、AGT(235)和IL6(573)中的多态性很可能与大量代谢综合征或脑血管损伤患者有关。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c8f3/5635648/68eb02ba02da/CG-18-430_F4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c8f3/5635648/b2c21f69309b/CG-18-430_F1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c8f3/5635648/3eafa176dbf6/CG-18-430_F2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c8f3/5635648/f16c4033f049/CG-18-430_F3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c8f3/5635648/68eb02ba02da/CG-18-430_F4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c8f3/5635648/b2c21f69309b/CG-18-430_F1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c8f3/5635648/3eafa176dbf6/CG-18-430_F2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c8f3/5635648/f16c4033f049/CG-18-430_F3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c8f3/5635648/68eb02ba02da/CG-18-430_F4.jpg

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