Search: onr:"swepub:oai:DiVA.org:uu-299903" >
Allele-specific tra...
Allele-specific transcription factor binding in liver and cervix cells unveils many likely drivers of GWAS signals
-
- Cavalli, Marco (author)
- Uppsala universitet,Medicinsk genetik och genomik
-
- Pan, Gang (author)
- Uppsala universitet,Medicinsk genetik och genomik
-
- Nord, Helena (author)
- Uppsala universitet,Medicinsk genetik och genomik,Uppsala Univ, Dept Immunol Genet & Pathol, Sci Life Lab, S-75108 Uppsala, Sweden.;Galderma, Dept Preclin Dev, Uppsala, Sweden.
-
show more...
-
- Arzt, Emelie Wallén (author)
- Uppsala universitet,Medicinsk genetik och genomik,Karolinska Inst, Ctr Biosci, Dept Biosci & Nutr, Huddinge, Sweden.
-
- Wallerman, Ola (author)
- Uppsala universitet,Medicinsk genetik och genomik
-
- Wadelius, Claes (author)
- Uppsala universitet,Medicinsk genetik och genomik
-
show less...
-
(creator_code:org_t)
- Elsevier BV, 2016
- 2016
- English.
-
In: Genomics. - : Elsevier BV. - 0888-7543 .- 1089-8646. ; 107:6, s. 248-254
- Related links:
-
https://uu.diva-port... (primary) (Raw object)
-
show more...
-
https://doi.org/10.1...
-
https://urn.kb.se/re...
-
https://doi.org/10.1...
-
http://kipublication...
-
show less...
Abstract
Subject headings
Close
- Genome-wide association studies (GWAS) point to regions with associated genetic variants but rarely to a specific gene and therefore detailed knowledge regarding the genes contributing to complex traits and diseases remains elusive. The functional role of GWAS-SNPs is also affected by linkage disequilibrium with many variants on the same haplotype and sometimes in the same regulatory element almost equally likely to mediate the effect. Using ChIP-seq data on many transcription factors, we pinpointed genetic variants in HepG2 and HeLa-S3 cell lines which show a genome-wide significant difference in binding between alleles. We identified a collection of 3713 candidate functional regulatory variants many of which are likely drivers of GWAS signals or genetic difference in expression. A recent study investigated many variants before finding the functional ones at the GALNT2 locus, which we found in our genome-wide screen in HepG2. This illustrates the efficiency of our approach.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Keyword
- Allele-specific regulation
- Association to GWAS/eQTLs
- Functional variants
Publication and Content Type
- ref (subject category)
- art (subject category)
Find in a library
-
Genomics
(Search for host publication in LIBRIS)
To the university's database