Archetti S, Martini M, Botteri E, Di Lorenzo D, Cervi E, Bonardelli S
Department of Diagnostic of Laboratories, Civic Hospital of Brescia, Italy.
Int J Appl Basic Med Res. 2012 Jul;2(2):117-22. doi: 10.4103/2229-516X.106354.
Peripheral arterial disease (PAD) is a disease affecting million of patients worldwide. Though traditional cardiovascular risk factors have been associated with the development of PAD, the possible existence of an inherited genetic predisposition to PAD has been investigated in few familial aggregation studies. A link between genetics and PAD may open new avenues for the prevention of this morbid and mortal disorder.
The aim of this study is to investigate a possible role of some genetic determinant involving into coagulation and homocysteine metabolism in the progression of PAD.
We follow one-hundred patients affected by PAD for six years. We evaluated Ankle-Brachial Index (ABI) two times; first at the time of recruitment and then after six years, in order to assess the progression of disease. Genotypes for the genes of Factor V Leiden, Prothrombin or Factor II G20210A, Cystathionine Beta-Synthase 844ins68bp and Methylenetetrahydrofolate Reductase C677T was ascertained after taking blood samples. Chi-square test was performed to determinate the possible correlation of these genes and the most common environmental factors in the progression of PAD.
Genetic disorders resulting in high level of homocysteina or thrombophilic phenotype are not so frequent. None among the genetic factors we considered were correlated with PAD.
PAD is a chronic disease whose course can be slowed down especially with the control of environmental risk factors. Genetic analyses are not useful to determine the disease progression or its tendency to remain stable.
外周动脉疾病(PAD)是一种影响全球数百万患者的疾病。尽管传统心血管危险因素与PAD的发生有关,但在少数家族聚集性研究中已对PAD遗传易感性的可能存在进行了调查。遗传学与PAD之间的联系可能为预防这种致残致命疾病开辟新途径。
本研究旨在调查一些涉及凝血和同型半胱氨酸代谢的遗传决定因素在PAD进展中的可能作用。
我们对100例PAD患者进行了6年随访。我们评估了两次踝臂指数(ABI);第一次在招募时,然后在6年后,以评估疾病进展。采集血样后确定因子V莱顿、凝血酶原或因子II G20210A、胱硫醚β-合酶844ins68bp和亚甲基四氢叶酸还原酶C677T基因的基因型。进行卡方检验以确定这些基因与PAD进展中最常见环境因素的可能相关性。
导致高同型半胱氨酸水平或血栓形成倾向表型的遗传疾病并不常见。我们考虑的遗传因素中没有一个与PAD相关。
PAD是一种慢性病,其病程可以通过控制环境危险因素特别是减缓。基因分析对于确定疾病进展或其保持稳定的趋势并无帮助。