NDLI: Copy number variation in the human genome and its implication in autoimmunity.

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Copy number variation in the human genome and its implication in autoimmunity.

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Copy number variation in the human genome and its implication in autoimmunity.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Schaschl, H. Aitman, T. J. Vyse, T. J.
Description	Country affiliation: United kingdom Author Affiliation: Schaschl H ( Imperial College London, Faculty of Medicine, Section of Molecular Genetics and Rheumatology, Hammersmith Campus, London, UK.)
Abstract	The causes of autoimmune disease remain poorly defined. However, it is known that genetic factors contribute to disease susceptibility. Hitherto, studies have focused upon single nucleotide polymorphisms as both tools for mapping and as probable causal variants. Recent studies, using genome-wide analytical techniques, have revealed that, in the genome, segments of DNA ranging in size from kilobases to megabases can vary in copy number. These changes of DNA copy number represent an important element of genomic polymorphism in humans and in other species and may therefore make a substantial contribution to phenotypic variation and population differentiation. Furthermore, copy number variation (CNV) in genomic regions harbouring dosage-sensitive genes may cause or predispose to a variety of human genetic diseases. Several recent studies have reported an association between CNV and autoimmunity in humans such as systemic lupus, psoriasis, Crohn's disease, rheumatoid arthritis and type 1 diabetes. The use of novel analytical techniques facilitates the study of complex human genomic structures such as CNV, and allows new susceptibility loci for autoimmunity to be found that are not readily mappable by single nucleotide polymorphism-based association analyses alone.
File Format	HTM / HTML
ISSN	00099104
e-ISSN	13652249
DOI	10.1111/j.1365-2249.2008.03865.x
Journal	Clinical & Experimental Immunology
Issue Number	1
Volume Number	156
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2009-04-01
Publisher Place	Great Britain (UK)
Access Restriction	Open
Subject Keyword	Discipline Immunology Autoimmune Diseases Genetics Gene Dosage Autoimmunity Genetic Predisposition To Disease Genetic Variation Research Support, Non-u.s. Gov't
Content Type	Text
Resource Type	Article
Subject	Immunology and Allergy Immunology

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