Sökning: onr:"swepub:oai:prod.swepub.kib.ki.se:135662872" >
Functional Analysis...
Functional Analysis of the Coronary Heart Disease Risk Locus on Chromosome 21q22
-
Beaney, KE (författare)
-
Smith, AJP (författare)
-
Folkersen, L (författare)
-
visa fler...
-
Palmen, J (författare)
-
Wannamethee, SG (författare)
-
Jefferis, BJ (författare)
-
Whincup, P (författare)
-
Gaunt, TR (författare)
-
Casas, JP (författare)
-
Ben-Shlomo, Y (författare)
-
Price, JF (författare)
-
Kumari, M (författare)
-
Wong, A (författare)
-
Ong, K (författare)
-
Hardy, R (författare)
-
Kuh, D (författare)
-
Wareham, N (författare)
-
Kivimaki, M (författare)
-
- Eriksson, P (författare)
- Karolinska Institutet
-
Humphries, SE (författare)
-
visa färre...
-
(creator_code:org_t)
- Hindawi Limited, 2017
- 2017
- Engelska.
-
Ingår i: Disease markers. - : Hindawi Limited. - 1875-8630 .- 0278-0240. ; 2017, s. 1096916-
- Relaterad länk:
-
http://downloads.hin...
-
visa fler...
-
http://kipublication...
-
https://doi.org/10.1...
-
visa färre...
Abstract
Ämnesord
Stäng
- Background. The coronary heart disease (CHD) risk locus on 21q22 (lead SNP rs9982601) lies within a “gene desert.” The aim of this study was to assess if this locus is associated with CHD risk factors and to identify the functional variant(s) and gene(s) involved.Methods. A phenome scan was performed with UCLEB Consortium data. Allele-specific protein binding was studied using electrophoretic mobility shift assays. Dual-reporter luciferase assays were used to assess the impact of genetic variation on expression. Expression quantitative trait analysis was performed with Advanced Study of Aortic Pathology (ASAP) and Genotype-Tissue Expression (GTEx) consortium data.Results. A suggestive association between QT interval and the locus was observed (rs9982601 p=0.04). One variant at the locus, rs28451064, showed allele-specific protein binding and its minor allele showed 12% higher luciferase expression (p= 4.82 × 10−3) compared to the common allele. The minor allele of rs9982601 was associated with higher expression of the closest upstream genes (SLC5A31.30-fold increasep= 3.98 × 10−5;MRPS61.15-fold increasep= 9.60 × 10−4) in aortic intima media in ASAP. Both rs9982601 and rs28451064 showed a suggestive association withMRPS6expression in relevant tissues in the GTEx data.Conclusions. A candidate functional variant, rs28451064, was identified. Future work should focus on identifying the pathway(s) involved.
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
Hitta via bibliotek
Till lärosätets databas
- Av författaren/redakt...
-
Beaney, KE
-
Smith, AJP
-
Folkersen, L
-
Palmen, J
-
Wannamethee, SG
-
Jefferis, BJ
-
visa fler...
-
Whincup, P
-
Gaunt, TR
-
Casas, JP
-
Ben-Shlomo, Y
-
Price, JF
-
Kumari, M
-
Wong, A
-
Ong, K
-
Hardy, R
-
Kuh, D
-
Wareham, N
-
Kivimaki, M
-
Eriksson, P
-
Humphries, SE
-
visa färre...
- Artiklar i publikationen
-
Disease markers
- Av lärosätet
-
Karolinska Institutet