uu.seUppsala University Publications
Change search
ReferencesLink to record
Permanent link

Direct link
Where in the genome are significant single nucleotide polymorphisms from genome-wide association studies located?
Show others and affiliations
2011 (English)In: Omics, ISSN 1536-2310, E-ISSN 1557-8100, Vol. 15, no 7-8, 507-12 p.Article in journal (Refereed) Published
Abstract [en]

Recent technological progress has permitted the efficient performance of genome-wide association studies (GWAS) to map genetic variants associated with common diseases. Here, we analyzed 2,893 single nucleotide polymorphisms (SNPs) that have been identified in 593 published GWAS as associated with a disease phenotype with respect to their genomic location. In absolute numbers, most significant SNPs are located in intergenic regions and introns. When compared to their representation on the chips, there is essentially overrepresentation of nonsynonymous coding SNPs (nsSNPs), synonymous coding SNPs, and SNPs in untranscribed regions upstream of genes among the disease associated SNPs. A Gene Ontology term analysis showed that genes putatively causing a phenotype often code for membrane associated proteins or signal transduction genes.

Place, publisher, year, edition, pages
2011. Vol. 15, no 7-8, 507-12 p.
National Category
URN: urn:nbn:se:uu:diva-207314DOI: 10.1089/omi.2010.0154PubMedID: 21699402OAI: oai:DiVA.org:uu-207314DiVA: diva2:647757
Available from: 2013-09-12 Created: 2013-09-12 Last updated: 2013-09-12

Open Access in DiVA

No full text

Other links

Publisher's full textPubMed

Search in DiVA

By author/editor
Günther, Torsten
In the same journal

Search outside of DiVA

GoogleGoogle Scholar
The number of downloads is the sum of all downloads of full texts. It may include eg previous versions that are now no longer available

Altmetric score

Total: 150 hits
ReferencesLink to record
Permanent link

Direct link