Universität zu Köln

Rada-Iglesias, Alvaro ORCID: 0000-0001-7137-1341 (2014). Genetic variation within transcriptional regulatory elements and its implications for human disease. Biol. Chem., 395 (12). S. 1453 - 1461. BERLIN: WALTER DE GRUYTER GMBH. ISSN 1437-4315

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Abstract

Common human pathologies have a complicated etiology involving both genetic and environmental risk factors. Moreover, the genetic basis of these disorders is also complex, with multiple and weak genetic variants contributing to disease susceptibility. In addition, most of these risk genetic variants occur outside genes, within the vast non-coding human genomic space. In this review I first illustrate how large-scale genomic studies aimed at mapping cis-regulatory elements in the human genome are facilitating the identification of disease-causative non-coding genetic variation. I then discuss some of the challenges that remain to be solved before the pathological consequences of non-coding genetic variation can be fully appreciated. Ultimately, revealing the genetics of human complex disease can be a critical step towards more personalized and effective diagnosis and treatments.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Rada-Iglesias, Alvaro UNSPECIFIED orcid.org/0000-0001-7137-1341 UNSPECIFIED
URN:	urn:nbn:de:hbz:38-422074
DOI:	10.1515/hsz-2014-0109
Journal or Publication Title:	Biol. Chem.
Volume:	395
Number:	12
Page Range:	S. 1453 - 1461
Date:	2014
Publisher:	WALTER DE GRUYTER GMBH
Place of Publication:	BERLIN
ISSN:	1437-4315
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language GENOME-WIDE ASSOCIATION; HISTONE MODIFICATIONS; COMPLEX TRAITS; CELL-TYPES; ENHANCER; LOCI; SUSCEPTIBILITY; POLYMORPHISM; INSIGHTS; BINDING Multiple languages Biochemistry & Molecular Biology Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/42207