PuSH - Publikationsserver des Helmholtz Zentrums München

Export: TXT Text RIS Endnote (RIS) BIB BibTeX
Kong, A.* ; Steinthorsdottir, V.* ; Masson, G.* ; Thorleifsson, G.* ; Sulem, P.* ; Besenbacher, S.* ; Jonasdottir, A.* ; Sigurdsson, A.* ; Kristinsson, K.T.* ; Frigge, M.L.* ; Gylfason, A. Olason, P.I.* ; Gudjonsson, S.A.* ; Sverrisson, S.* ; Stacey, S.N.* ; Sigurgeirsson, B.* ; Benediktsdottir, K.R.* ; Sigurdsson, H.* ; Jonsson, T.* ; Benediktsson, R.* ; Olafsson, J.H.* ; Johannsson, O.T.* ; Hreidarsson, A.B.* ; Sigurdsson, G.* ; DIAGRAM Consortium (Huth, C. ; Grallert, H. ; Gieger, C. ; Klopp, N. ; Meitinger, T. ; Petersen, A.-K. ; Thorand, B. ; Wichmann, H.-E. ; Illig, T.) ; Ferguson-Smith, A.C.* ; Gudbjartsson, D.F.* ; Thorsteinsdottir, U.* ; Stefansson, K.

Parental origin of sequence variants associated with complex diseases.

Nature 462, 868-874 (2009)
DOI PMC
Open Access Green möglich sobald Postprint bei der ZB eingereicht worden ist.
Effects of susceptibility variants may depend on from which parent they are inherited. Although many associations between sequence variants and human traits have been discovered through genome-wide associations, the impact of parental origin has largely been ignored. Here we show that for 38,167 Icelanders genotyped using single nucleotide polymorphism (SNP) chips, the parental origin of most alleles can be determined. For this we used a combination of genealogy and long-range phasing. We then focused on SNPs that associate with diseases and are within 500 kilobases of known imprinted genes. Seven independent SNP associations were examined. Five - one with breast cancer, one with basal-cell carcinoma and three with type-2 diabetes - have parental-origin-specific associations. These variants are located in two genomic regions, 11p15 and 7q32, each harbouring a cluster of imprinted genes. Furthermore, we observed a novel association between the SNP rs2334499 at 11p15 and type-2 diabetes. Here the allele that confers risk when paternally inherited is protective when maternally transmitted. We identified a differentially methylated CTCF-binding site at 11p15 and demonstrated correlation of rs2334499 with decreased methylation of that site.
Impact Factor
Scopus SNIP
Web of Science
Times Cited
Scopus
Cited By
Altmetric
31.434
9.030
318
432
Tags
Anmerkungen
Besondere Publikation
Auf Hompepage verbergern

Zusatzinfos bearbeiten
Eigene Tags bearbeiten
Privat
Eigene Anmerkung bearbeiten
Privat
Auf Publikationslisten für
Homepage nicht anzeigen
Als besondere Publikation
markieren
Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter genome-wide association; imprinted genes; susceptibility; expression; imputation; kcnq1
Sprache englisch
Veröffentlichungsjahr 2009
HGF-Berichtsjahr 0
ISSN (print) / ISBN 0028-0836
e-ISSN 1476-4687
Zeitschrift Nature
Quellenangaben Band: 462, Heft: 7275, Seiten: 868-874 Artikelnummer: , Supplement: ,
Verlag Nature Publishing Group
Verlagsort London
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Epidemiology (EPI)
Institute of Human Genetics (IHG)
POF Topic(s) 30503 - Chronic Diseases of the Lung and Allergies
30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
Forschungsfeld(er) Genetics and Epidemiology
PSP-Element(e) G-503900-001
G-503900-003
G-500700-001
PubMed ID 20016592
DOI 10.1038/nature08625
Erfassungsdatum 2009-12-31
[➜Korrektur melden]