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3 - Genetics of carotid atherosclerosis

from Background

Published online by Cambridge University Press:  03 December 2009

By
Stephen S. Rich  and
Donna K. Arnett
Edited by
Jonathan Gillard ,
Martin Graves ,
Thomas Hatsukami  and
Chun Yuan
Stephen S. Rich
Affiliation:
Wake Forest University School of Medicine, Winston-Salem, NC, USA
Donna K. Arnett
Affiliation:
University of Alabama at Birmingham School of Public Health, Birmingham, AL, USA
Jonathan Gillard
Affiliation:
University of Cambridge
Martin Graves
Affiliation:
University of Cambridge
Thomas Hatsukami
Affiliation:
University of Washington
Chun Yuan
Affiliation:
University of Washington
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Summary

Introduction

Carotid atherosclerosis is a multifactorial phenotype that is the end product of an array of genetic and environmental causes. The number of cell types and factors that influence the interaction of inflammatory, metabolic and hemodynamic mechanisms is likely to be large. Each of these processes may have both “public” and “private” genetic determinants. Increasing knowledge of genes, their sequence variation, and their expression has provided novel insights regarding the contribution of individual genetic factors to atherosclerosis risk and potential biological pathways that mediate that risk.

Human genetic research has a recent history, starting from Mendel's reading of his paper, “Experiments on Plant Hybridization,” in 1865 and publication in 1866. Mapping and identification of genes for human traits require three essential ingredients – a heritable trait, biological material (DNA), and DNA polymorphisms. DNA polymorphisms are heritable markers that can be scored in human populations. Many of the early investigations in human genetics were restricted to Mendelian (single gene) disorders in families that exhibited either dominant or recessive inheritance patterns. The DNA polymorphisms were restricted to blood group or serological markers, and were relatively infrequent in the human genome. Human genetic studies were revolutionized by the development of a new class of markers (restriction fragment length polymorphisms, RFLPs) and an analytic framework to enhance gene discovery (Botstein et al., 1980).

Keywords

carotid atherosclerosisgene discoverygenomewide linkageheritabilitystromelysinmatrix metalloproteinasesintima media thickness
Type
Chapter
Information
Carotid Disease
The Role of Imaging in Diagnosis and Management
 , pp. 35 - 44
Publisher: Cambridge University Press
Print publication year: 2006

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