Page 119 - The Vasculitides, Volume 1: General Considerations and Systemic Vasculitis

In: The Vasculitides, Volume 1 ISBN: 978-1-63463-110-5
Editors: David S. Younger © 2015 Nova Science Publishers, Inc.

Chapter 5

Genetic Aspects of Vasculitis

F. David Carmona1, Ph.D., Ana Márquez1, M.D.,
Javier Martín, M.D.1 and Miguel A. González-Gay, M.D., Ph.D.2,?

1Instituto de Parasitología y Biomedicina „López-Neyra?, CSIC, Granada, Spain
2Hospital Universitario Marqués de Valdecilla, IFIMAV, Santander, Spain

Abstract

The publication of recent genome-wide association studies is substantially increasing
the understanding of human diseases with a complex genetic component. Vasculitides,
which are characterized by inflammatory damage of the blood vessels, are a good
example of this type of disorder. They show a very complex etiology in which both
environmental and genetic factors seem to contribute to the predisposition and clinical
phenotype of the disease. During the last decade, a large number of genetic studies,
genome-wide association studies in some cases, have been performed on vasculitides
and, strikingly, most of the identified risk loci shared susceptibility factors amongst them.
This reinforces the idea that some immunological pathways are key players in the major
hallmarks of these diseases.

However, since the current knowledge of the genetic basis of the vasculitides is often
based on studies performed in few population, further collaborative studies on larger
cohorts are required to provide the last pieces of the genetic puzzle underlying
vasculitides, giving us a better perspective of their etiopathogenesis and allowing novel
approaches for the development of more effective therapies.

Introduction

Vasculitides present a complex etiology in which both environmental and genetic factors
appear to influence the development and progression of disease. The genetic component of
these disorders is supported by the identification of an increased risk among first-degree

? Corresponding author: Miguel A. González-Gay, M.D., Ph.D. Rheumatology Division, Hospital Universitario
Marqués de Valdecilla, IFIMAV, 39008, Santander, Spain. E-mail: [email protected].

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