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Ancestry-shift refi...
Ancestry-shift refinement mapping of the C6orf97-ESR1 breast cancer susceptibility locus.
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Stacey, Simon N (author)
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Sulem, Patrick (author)
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Zanon, Carlo (author)
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show more...
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Gudjonsson, Sigurjon A (author)
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Thorleifsson, Gudmar (author)
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Helgason, Agnar (author)
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Jonasdottir, Aslaug (author)
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Besenbacher, Soren (author)
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Kostic, Jelena P (author)
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Fackenthal, James D (author)
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Huo, Dezheng (author)
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Adebamowo, Clement (author)
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Ogundiran, Temidayo (author)
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Olson, Janet E (author)
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Fredericksen, Zachary S (author)
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Wang, Xianshu (author)
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Look, Maxime P (author)
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- Sieuwerts, Anieta M (author)
- Karolinska Institutet
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Martens, John W M (author)
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Pajares, Isabel (author)
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Garcia-Prats, Maria D (author)
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Ramon-Cajal, Jose M (author)
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de Juan, Ana (author)
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Panadero, Angeles (author)
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Ortega, Eugenia (author)
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- Hemminki, Kari (author)
- Lund University,Lunds universitet,Allmänmedicin och klinisk epidemiologi,Forskargrupper vid Lunds universitet,Family Medicine and Clinical Epidemiology,Lund University Research Groups
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Vermeulen, Sita H (author)
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Asadzadeh, Fatemeh (author)
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van Engelenburg, K C Anton (author)
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Margolin, Sara (author)
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Shen, Chen-Yang (author)
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Wu, Pei-Ei (author)
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- Försti, Asta (author)
- Lund University,Lunds universitet,Allmänmedicin och klinisk epidemiologi,Forskargrupper vid Lunds universitet,Family Medicine and Clinical Epidemiology,Lund University Research Groups
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- Lenner, Per (author)
- Umeå universitet,Onkologi
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- Henriksson, Roger (author)
- Umeå universitet,Onkologi
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- Johansson, Robert (author)
- Umeå universitet,Onkologi
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- Enquist, Kerstin (author)
- Umeå universitet,Näringsforskning
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- Hallmans, Göran (author)
- Umeå universitet,Näringsforskning
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Jonsson, Thorvaldur (author)
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Sigurdsson, Helgi (author)
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Alexiusdottir, Kristin (author)
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Gudmundsson, Julius (author)
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Sigurdsson, Asgeir (author)
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Frigge, Michael L (author)
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Gudmundsson, Larus (author)
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Kristjansson, Kristleifur (author)
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Halldorsson, Bjarni V (author)
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Styrkarsdottir, Unnur (author)
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Gulcher, Jeffrey R (author)
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Hemminki, Kari (author)
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- Lindblom, Annika (author)
- Karolinska Institutet
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Kiemeney, Lambertus A (author)
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Mayordomo, Jose I (author)
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Foekens, John A (author)
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Couch, Fergus J (author)
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Olopade, Olufunmilayo I (author)
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Gudbjartsson, Daniel F (author)
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Thorsteinsdottir, Unnur (author)
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Rafnar, Thorunn (author)
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Johannsson, Oskar T (author)
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Stefansson, Kari (author)
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(creator_code:org_t)
- 2010-07-22
- 2010
- English.
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In: PLoS genetics. - : Public Library of Science. - 1553-7404. ; 6:7, s. e1001029-
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https://journals.plo...
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http://dx.doi.org/10... (free)
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https://urn.kb.se/re...
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https://doi.org/10.1...
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https://lup.lub.lu.s...
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http://kipublication...
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Abstract
Subject headings
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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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Hälsovetenskap -- Folkhälsovetenskap, global hälsa, socialmedicin och epidemiologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Health Sciences -- Public Health, Global Health, Social Medicine and Epidemiology (hsv//eng)
Keyword
- MEDICINE
- MEDICIN
Publication and Content Type
- ref (subject category)
- art (subject category)
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- By the author/editor
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Stacey, Simon N
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Sulem, Patrick
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Zanon, Carlo
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Gudjonsson, Sigu ...
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Thorleifsson, Gu ...
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Helgason, Agnar
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show more...
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Jonasdottir, Asl ...
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Besenbacher, Sor ...
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Kostic, Jelena P
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Fackenthal, Jame ...
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Huo, Dezheng
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Adebamowo, Cleme ...
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Ogundiran, Temid ...
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Olson, Janet E
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Fredericksen, Za ...
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Wang, Xianshu
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Look, Maxime P
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Sieuwerts, Aniet ...
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Martens, John W ...
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Pajares, Isabel
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Garcia-Prats, Ma ...
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Ramon-Cajal, Jos ...
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de Juan, Ana
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Panadero, Angele ...
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Ortega, Eugenia
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Hemminki, Kari
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Vermeulen, Sita ...
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Asadzadeh, Fatem ...
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van Engelenburg, ...
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Margolin, Sara
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Shen, Chen-Yang
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Wu, Pei-Ei
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Försti, Asta
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Lenner, Per
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Henriksson, Roge ...
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Johansson, Rober ...
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Enquist, Kerstin
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Hallmans, Göran
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Jonsson, Thorval ...
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Sigurdsson, Helg ...
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Alexiusdottir, K ...
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Gudmundsson, Jul ...
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Sigurdsson, Asge ...
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Frigge, Michael ...
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Gudmundsson, Lar ...
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Kristjansson, Kr ...
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Halldorsson, Bja ...
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Styrkarsdottir, ...
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Gulcher, Jeffrey ...
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Lindblom, Annika
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Kiemeney, Lamber ...
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Mayordomo, Jose ...
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Foekens, John A
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Couch, Fergus J
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Olopade, Olufunm ...
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Gudbjartsson, Da ...
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Thorsteinsdottir ...
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Rafnar, Thorunn
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Johannsson, Oska ...
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Stefansson, Kari
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Health Sciences
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and Public Health Gl ...
- Articles in the publication
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PLoS genetics
- By the university
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Umeå University
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Lund University
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Karolinska Institutet