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Pregled bibliografske jedinice broj: 438089

Parental origin of sequence variants associated with complex diseases

Kong, Augustine; Steinthorsdottir, Valgerdur; Masson, Gisli; Thorleifsson, Gudmar; Sulem, Patrick; Besenbacher, Soren; Jonasdottir, Aslaug; Sigurdsson, Asgeir; Kristinsson, Kari Th.; Jonasdottir, Adalbjorg et al.
Parental origin of sequence variants associated with complex diseases // Nature, 462 (2009), 7275; 868-874 (međunarodna recenzija, članak, znanstveni)

CROSBI ID: 438089 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
Parental origin of sequence variants associated with complex diseases

Autori
Kong, Augustine ; Steinthorsdottir, Valgerdur ; Masson, Gisli ; Thorleifsson, Gudmar ; Sulem, Patrick ; Besenbacher, Soren ; Jonasdottir, Aslaug ; Sigurdsson, Asgeir ; Kristinsson, Kari Th. ; Jonasdottir, Adalbjorg ; Frigge, Michael L. ; Gylfason, Arnaldur ; Olason, Pall I. ; Gudjonsson, Sigurjon A. ; Sverrisson, Sverrir ; Stacey, Simon N. ; Sigurgeirsson, Bardur ; Benediktsdottir, Kristrun R. ; Sigurdsson, Helgi ; Jonsson, Thorvaldur ; Benediktsson, Rafn ; Olafsson, Jon H. ; Johannsson, Oskar Th. ; Hreidarsson, Astradur B. ; Sigurdsson, Gunnar ; the DIAGRAM Consortium ; Campbell, Harry ; Wilson, James F. ; Rudan, Igor ; Ferguson-Smith, Anne C. ; Gudbjartsson, Daniel F. ; Thorsteinsdottir, Unnur ; Stefansson, Kari

Izvornik
Nature (0028-0836) 462 (2009), 7275; 868-874

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
parental origin; human genome; sequence variants; complex diseases

Sažetak
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.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti, Kliničke medicinske znanosti, Javno zdravstvo i zdravstvena zaštita



POVEZANOST RADA

Projekti:
216-1080315-0302 - Odrednice zdravlja i bolesti u općoj i izoliranim ljudskim populacijama (Polašek, Ozren, MZOS ) ( CroRIS)

Ustanove:
Medicinski fakultet, Split

Profili:

Avatar Url Igor Rudan (autor)

Citiraj ovu publikaciju:

Kong, Augustine; Steinthorsdottir, Valgerdur; Masson, Gisli; Thorleifsson, Gudmar; Sulem, Patrick; Besenbacher, Soren; Jonasdottir, Aslaug; Sigurdsson, Asgeir; Kristinsson, Kari Th.; Jonasdottir, Adalbjorg et al.
Parental origin of sequence variants associated with complex diseases // Nature, 462 (2009), 7275; 868-874 (međunarodna recenzija, članak, znanstveni)
Kong, A., Steinthorsdottir, V., Masson, G., Thorleifsson, G., Sulem, P., Besenbacher, S., Jonasdottir, A., Sigurdsson, A., Kristinsson, K. & Jonasdottir, A. (2009) Parental origin of sequence variants associated with complex diseases. Nature, 462 (7275), 868-874.
@article{article, author = {Kong, Augustine and Steinthorsdottir, Valgerdur and Masson, Gisli and Thorleifsson, Gudmar and Sulem, Patrick and Besenbacher, Soren and Jonasdottir, Aslaug and Sigurdsson, Asgeir and Kristinsson, Kari Th. and Jonasdottir, Adalbjorg and Frigge, Michael L. and Gylfason, Arnaldur and Olason, Pall I. and Gudjonsson, Sigurjon A. and Sverrisson, Sverrir and Stacey, Simon N. and Sigurgeirsson, Bardur and Benediktsdottir, Kristrun R. and Sigurdsson, Helgi and Jonsson, Thorvaldur and Benediktsson, Rafn and Olafsson, Jon H. and Johannsson, Oskar Th. and Hreidarsson, Astradur B. and Sigurdsson, Gunnar and Campbell, Harry and Wilson, James F. and Rudan, Igor and Ferguson-Smith, Anne C. and Gudbjartsson, Daniel F. and Thorsteinsdottir, Unnur and Stefansson, Kari}, year = {2009}, pages = {868-874}, keywords = {parental origin, human genome, sequence variants, complex diseases}, journal = {Nature}, volume = {462}, number = {7275}, issn = {0028-0836}, title = {Parental origin of sequence variants associated with complex diseases}, keyword = {parental origin, human genome, sequence variants, complex diseases} }
@article{article, author = {Kong, Augustine and Steinthorsdottir, Valgerdur and Masson, Gisli and Thorleifsson, Gudmar and Sulem, Patrick and Besenbacher, Soren and Jonasdottir, Aslaug and Sigurdsson, Asgeir and Kristinsson, Kari Th. and Jonasdottir, Adalbjorg and Frigge, Michael L. and Gylfason, Arnaldur and Olason, Pall I. and Gudjonsson, Sigurjon A. and Sverrisson, Sverrir and Stacey, Simon N. and Sigurgeirsson, Bardur and Benediktsdottir, Kristrun R. and Sigurdsson, Helgi and Jonsson, Thorvaldur and Benediktsson, Rafn and Olafsson, Jon H. and Johannsson, Oskar Th. and Hreidarsson, Astradur B. and Sigurdsson, Gunnar and Campbell, Harry and Wilson, James F. and Rudan, Igor and Ferguson-Smith, Anne C. and Gudbjartsson, Daniel F. and Thorsteinsdottir, Unnur and Stefansson, Kari}, year = {2009}, pages = {868-874}, keywords = {parental origin, human genome, sequence variants, complex diseases}, journal = {Nature}, volume = {462}, number = {7275}, issn = {0028-0836}, title = {Parental origin of sequence variants associated with complex diseases}, keyword = {parental origin, human genome, sequence variants, complex diseases} }

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • MEDLINE

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