Genetic Risk Factors
Thrombotic Genetic Risk Factors

Author: daniele viarisio
Date: 17/01/2008


Cardiovascular disease (CVD) are a leading cause of death in western countries. While the environmental causes of CVD are well characterized and classified, the genetic risk basis are still not well determined. The difficulty in assembling a list of mutations involved in CVD is mainly of statistical origin. Often a significant clinical study is not confirmed by subsequent studies because the analyzed populations present different characteristics, ethnical origins or too small number of patients. Hundreds of genes and mutations have been tested in the last years and till today a small number of them seem to be implicated directly in CVD development. Again, CVD is a multifactorial pathology and could be very difficult, if not impossible, to find a single gene that alone leads to develop cardiovascular problems. So it appears more and more necessary to have a different type of approach to the analysis, taking into account the effect of more than one gene in each study.
Anyway, the contribution of some mutations in the developing of the disease is today quite well ascertained. A list of the most common mutations contributing in the insorgence of CVD is provided. It should be noted that all the mutations listed elevate the risk of disease development especially when associated with conventional risk factor, like smoke or diet: a single mutation alone can have a small impact on health, while could rise of several folds the risk of a traditional factor. Last, the effect of genetic risk factors are more elevated on young people, when the effects of environmental factors are still not so high on the human body. An interesting article that put in relation genetic risk factors and enviromental factors can be consulted here .

2008-01-21T18:22:55 - Gianpiero Pescarmona

Un gene predispone ai trombi venosi cerebrali
E' stata rinvenuta una variante di un gene, precedentemente connesso alla trombosi venosa periferica, che può aumentare anche il rischio di trombosi venosa cerebrale: questa variante, a carico del gene C46T codificante il fattore XII, è più comune nei soggetti con trombosi venosa cerebrale, essendo presente nel 16, 7 percento dei casi. I risultati del presente studio necessitano di conferme, ma probabilmente i soggetti con trombosi venosa cerebrale dovrebbero essere testati alla ricerca di questa variante genica, e dovrebbero prendere in considerazione l'uso di una terapia anticoagulante per prevenire la formazione di ulteriori trombi. (Neurology. 2008; 70: 129-32)

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