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Ancestry-shift refinement mapping of the C6orf97-ESR1 breast cancer susceptibility locus. [Elektronisk resurs]

Stacey, Simon N (creator_code:aut_t)
Sulem, Patrick (creator_code:aut_t)
Zanon, Carlo (creator_code:aut_t)
Gudjonsson, Sigurjon A (creator_code:aut_t)
Thorleifsson, Gudmar (creator_code:aut_t)
Helgason, Agnar (creator_code:aut_t)
Jonasdottir, Aslaug (creator_code:aut_t)
Besenbacher, Soren (creator_code:aut_t)
Kostic, Jelena P (creator_code:aut_t)
Fackenthal, James D (creator_code:aut_t)
Huo, Dezheng (creator_code:aut_t)
Adebamowo, Clement (creator_code:aut_t)
Ogundiran, Temidayo (creator_code:aut_t)
Olson, Janet E (creator_code:aut_t)
Fredericksen, Zachary S (creator_code:aut_t)
Wang, Xianshu (creator_code:aut_t)
Look, Maxime P (creator_code:aut_t)
Sieuwerts, Anieta M (creator_code:aut_t)
Martens, John W M (creator_code:aut_t)
Pajares, Isabel (creator_code:aut_t)
Garcia-Prats, Maria D (creator_code:aut_t)
Ramon-Cajal, Jose M (creator_code:aut_t)
de Juan, Ana (creator_code:aut_t)
Panadero, Angeles (creator_code:aut_t)
Ortega, Eugenia (creator_code:aut_t)
Aben, Katja K H (creator_code:aut_t)
Vermeulen, Sita H (creator_code:aut_t)
Asadzadeh, Fatemeh (creator_code:aut_t)
van Engelenburg, K C Anton (creator_code:aut_t)
Margolin, Sara (creator_code:aut_t)
Shen, Chen-Yang (creator_code:aut_t)
Wu, Pei-Ei (creator_code:aut_t)
Försti, Asta (creator_code:aut_t)
Lenner, Per (creator_code:aut_t)
Henriksson, Roger (creator_code:aut_t)
Johansson, Robert (creator_code:aut_t)
Enquist, Kerstin (creator_code:aut_t)
Hallmans, Göran (creator_code:aut_t)
Jonsson, Thorvaldur (creator_code:aut_t)
Sigurdsson, Helgi (creator_code:aut_t)
Alexiusdottir, Kristin (creator_code:aut_t)
Gudmundsson, Julius (creator_code:aut_t)
Sigurdsson, Asgeir (creator_code:aut_t)
Frigge, Michael L (creator_code:aut_t)
Gudmundsson, Larus (creator_code:aut_t)
Kristjansson, Kristleifur (creator_code:aut_t)
Halldorsson, Bjarni V (creator_code:aut_t)
Styrkarsdottir, Unnur (creator_code:aut_t)
Gulcher, Jeffrey R (creator_code:aut_t)
Hemminki, Kari (creator_code:aut_t)
Lindblom, Annika (creator_code:aut_t)
Kiemeney, Lambertus A (creator_code:aut_t)
Mayordomo, Jose I (creator_code:aut_t)
Foekens, John A (creator_code:aut_t)
Couch, Fergus J (creator_code:aut_t)
Olopade, Olufunmilayo I (creator_code:aut_t)
Gudbjartsson, Daniel F (creator_code:aut_t)
Thorsteinsdottir, Unnur (creator_code:aut_t)
Rafnar, Thorunn (creator_code:aut_t)
Johannsson, Oskar T (creator_code:aut_t)
Stefansson, Kari (creator_code:aut_t)
Umeå universitet Medicinska fakulteten (creator_code:pbl_t)
record:Alt_name_t: Umeå universitet. Medicinsk-odontologiska fakulteten
record:Alt_name_t: Medicinska fakulteten vid Umeå universitet
Umeå universitet Medicinska fakulteten (creator_code:pbl_t)
record:Alt_name_t: Umeå universitet. Medicinsk-odontologiska fakulteten
record:Alt_name_t: Medicinska fakulteten vid Umeå universitet
Public Library of Science 2010
language:Eng_t.
record:In_t: PLoS genetics. - 1553-7404. ; 6:7, e1001029
record:Fulltextlink_a_t
record:Fulltextlink_a_t
record:Fulltextlink_a_t
  • type:E_article_t
record:Abstract_t record:Subject_description_t
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  • We used an approach that we term ancestry-shift refinement mapping to investigate an association, originally discovered in a GWAS of a Chinese population, between rs2046210[T] and breast cancer susceptibility. The locus is on 6q25.1 in proximity to the C6orf97 and estrogen receptor alpha (ESR1) genes. We identified a panel of SNPs that are correlated with rs2046210 in Chinese, but not necessarily so in other ancestral populations, and genotyped them in breast cancer case:control samples of Asian, European, and African origin, a total of 10,176 cases and 13,286 controls. We found that rs2046210[T] does not confer substantial risk of breast cancer in Europeans and Africans (OR = 1.04, P = 0.099, and OR = 0.98, P = 0.77, respectively). Rather, in those ancestries, an association signal arises from a group of less common SNPs typified by rs9397435. The rs9397435[G] allele was found to confer risk of breast cancer in European (OR = 1.15, P = 1.2 x 10(-3)), African (OR = 1.35, P = 0.014), and Asian (OR = 1.23, P = 2.9 x 10(-4)) population samples. Combined over all ancestries, the OR was 1.19 (P = 3.9 x 10(-7)), was without significant heterogeneity between ancestries (P(het) = 0.36) and the SNP fully accounted for the association signal in each ancestry. Haplotypes bearing rs9397435[G] are well tagged by rs2046210[T] only in Asians. The rs9397435[G] allele showed associations with both estrogen receptor positive and estrogen receptor negative breast cancer. Using early-draft data from the 1,000 Genomes project, we found that the risk allele of a novel SNP (rs77275268), which is closely correlated with rs9397435, disrupts a partially methylated CpG sequence within a known CTCF binding site. These studies demonstrate that shifting the analysis among ancestral populations can provide valuable resolution in association mapping. 

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Medical and Health Sciences  (hsv)
Medicin och hälsovetenskap  (hsv)
MEDICINE  (svep)
MEDICIN  (svep)
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