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通过实施触珠蛋白基因分型实现2型糖尿病患者的精准医疗

Precision Healthcare of Type 2 Diabetic Patients Through Implementation of Haptoglobin Genotyping.

作者信息

Bale Bradley F, Doneen Amy L, Vigerust David J

机构信息

Washington State University Elson S. Floyd College of Medicine, Spokane, WA, United States.

Vanderbilt University School of Medicine, Nashville, TN, United States.

出版信息

Front Cardiovasc Med. 2018 Oct 16;5:141. doi: 10.3389/fcvm.2018.00141. eCollection 2018.

DOI:10.3389/fcvm.2018.00141
PMID:30386783
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6198642/
Abstract

It is well-recognized that there is a need for medicine to migrate to a platform of delivering preventative care based on an individual's genetic make-up. The US National Research Council, the National Institute of Health and the American Heart Association all support the concept of utilizing genomic information to enhance the clinical management of patients. It is believed this type of precision healthcare will revolutionize health management. This current attitude of some of the most respected institutes in healthcare sets the stage for the utilization of the haptoglobin (Hp) genotype to guide precision management in type 2 diabetics (DM). There are three main Hp genotypes: 1-1, 2-1, 2-2. The Hp genotype has been studied extensively in (DM) and from the accumulated data it is clear that Hp should be considered in all DM patients as an additional independent cardiovascular disease (CVD) risk factor. In DM patients Hp2-2 generates five times increased risk of CVD compared to Hp1-1 and three times increased risk compared to Hp2-1. Data has also shown that carrying the Hp2-2 gene in DM compared to carrying an Hp1-1 genotype can increase the risk the microvascular complications of nephropathy and retinopathy. In addition, the Hp2-2 gene enhances post percutaneous coronary intervention (PCI) complications such as, in stent restenosis and need for additional revascularization during the first-year post PCI. Studies have demonstrated significant mitigation of CVD risk in Hp2-2 DM patients with administration of vitamin E and maintaining tight glycemic control. CVD is the leading cause of death and disability in DM as well-representing a huge financial burden. As such, evaluating the Hp genotype in DM patients can enhance the predictability and management of CVD risk.

摘要

人们普遍认识到,医学需要转向一个基于个体基因构成提供预防性护理的平台。美国国家研究委员会、国立卫生研究院和美国心脏协会都支持利用基因组信息来加强患者临床管理的概念。人们认为,这种精准医疗将彻底改变健康管理模式。医疗保健领域一些最受尊敬的机构目前的这种态度为利用触珠蛋白(Hp)基因型来指导2型糖尿病(DM)患者的精准管理奠定了基础。Hp主要有三种基因型:1-1、2-1、2-2。Hp基因型在糖尿病患者中已得到广泛研究,从积累的数据来看,很明显在所有糖尿病患者中都应将Hp视为一个额外的独立心血管疾病(CVD)风险因素。在糖尿病患者中,与Hp1-1相比,Hp2-2导致心血管疾病的风险增加五倍,与Hp2-1相比增加三倍。数据还表明,与携带Hp1-1基因型相比,糖尿病患者携带Hp2-2基因会增加肾病和视网膜病变等微血管并发症的风险。此外,Hp2-2基因会增加经皮冠状动脉介入治疗(PCI)后的并发症,如支架内再狭窄以及PCI后第一年需要额外的血运重建。研究表明,给携带Hp2-2基因的糖尿病患者服用维生素E并保持严格的血糖控制,可显著降低心血管疾病风险。心血管疾病是糖尿病患者死亡和致残的主要原因,也是一个巨大的经济负担。因此,评估糖尿病患者的Hp基因型可以提高心血管疾病风险的可预测性和管理水平。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0a32/6198642/c66906a5482f/fcvm-05-00141-g0003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0a32/6198642/b826398493a1/fcvm-05-00141-g0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0a32/6198642/e9aefb45b0de/fcvm-05-00141-g0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0a32/6198642/c66906a5482f/fcvm-05-00141-g0003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0a32/6198642/b826398493a1/fcvm-05-00141-g0001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0a32/6198642/e9aefb45b0de/fcvm-05-00141-g0002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0a32/6198642/c66906a5482f/fcvm-05-00141-g0003.jpg

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