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Ancestry-shift refinement mapping of the C6orf97-ESR1 breast cancer susceptibility locus
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نویسنده
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stacey s.n. ,sulem p. ,zanon c. ,gudjonsson s.a. ,thorleifsson g. ,helgason a. ,jonasdottir a. ,besenbacher s. ,kostic j.p. ,fackenthal j.d. ,huo d. ,adebamowo c. ,ogundiran t. ,olson j.e. ,fredericksen z.s. ,wang x. ,look m.p. ,sieuwerts a.m. ,martens j.w.m. ,pajares i. ,garcia-prats m.d. ,ramon-cajal j.m. ,de juan a. ,panadero a. ,ortega e. ,aben k.k.h. ,vermeulen s.h. ,asadzadeh f. ,anton van engelenburg k.c. ,margolin s. ,shen c.-y. ,wu p.-e. ,försti a. ,lenner p. ,henriksson r. ,johansson r. ,enquist k. ,hallmans g. ,jonsson t. ,sigurdsson h. ,alexiusdottir k. ,gudmundsson j. ,sigurdsson a. ,frigge m.l. ,gudmundsson l. ,kristjansson k. ,halldorsson b.v. ,styrkarsdottir u. ,gulcher j.r. ,hemminki k. ,lindblom a. ,kiemeney l.a. ,mayordomo j.i. ,foekens j.a. ,couch f.j. ,olopade o.i. ,gudbjartsson d.f. ,thorsteinsdottir u. ,rafnar t. ,johannsson o.t. ,stefansson k.
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منبع
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plos genetics - 2010 - دوره : 6 - شماره : 7 - صفحه:1 -12
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چکیده
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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 α (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 = 1.2×10-3),african (or = 1.35,p = 0.014),and asian (or = 1.23,p = 2.9×10-4) population samples. combined over all ancestries,the or was 1.19 (p = 3.9×10-7),was without significant heterogeneity between ancestries (phet = 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. © 2010 stacey et al.
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آدرس
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decode genetics,reykjavik, Iceland, decode genetics,reykjavik, Iceland, decode genetics,reykjavik, Iceland, decode genetics,reykjavik, Iceland, decode genetics,reykjavik, Iceland, decode genetics,reykjavik, Iceland, decode genetics,reykjavik, Iceland, decode genetics,reykjavik, Iceland, decode genetics,reykjavik, Iceland, department of medicine and center for clinical cancer genetics,university of chicago,chicago,il, United States, department of medicine and center for clinical cancer genetics,university of chicago,chicago,il, United States, division of oncology,department of surgery,college of medicine,university of ibadan,university college hospital,ibadan,oyo, Nigeria, division of oncology,department of surgery,college of medicine,university of ibadan,university college hospital,ibadan,oyo, Nigeria, department of laboratory medicine and pathology,department of health sciences research,mayo clinic,rochester,mn, United States, department of laboratory medicine and pathology,department of health sciences research,mayo clinic,rochester,mn, United States, department of laboratory medicine and pathology,department of health sciences research,mayo clinic,rochester,mn, United States, department of medical oncology,erasmus mc rotterdam,josephine nefkens institute and cancer genomics center,rotterdam, Netherlands, department of medical oncology,erasmus mc rotterdam,josephine nefkens institute and cancer genomics center,rotterdam, Netherlands, department of medical oncology,erasmus mc rotterdam,josephine nefkens institute and cancer genomics center,rotterdam, Netherlands, division of medical oncology,university hospital,zaragoza, Spain, divisions of surgical pathology and gynecology,san jorge hospital,huesca, Spain, divisions of surgical pathology and gynecology,san jorge hospital,huesca, Spain, division of medical oncology,marques de valdecilla university hospital,santander, Spain, division of medical oncology,hospital ciudad de coria,coria, Spain, division of medical oncology,university hospital,lérida, Spain, comprehensive cancer centre iko,nijmegen,netherlands,department of epidemiology,biostatistics and health technology assessment,radboud university nijmegen medical centre,nijmegen, Netherlands, department of epidemiology,biostatistics and health technology assessment,radboud university nijmegen medical centre,nijmegen,netherlands,department of human genetics,radboud university nijmegen medical centre,nijmegen, Netherlands, department of epidemiology,biostatistics and health technology assessment,radboud university nijmegen medical centre,nijmegen, Netherlands, department of surgery,slingeland hospital,doetinchem, Netherlands, department of oncology and pathology,karolinska institute,stockholm, Sweden, institute of biomedical sciences,academia sinica,taipei,taiwan,graduate institute of environmental science,china medical university,taichung, Taiwan, institute of biomedical sciences,academia sinica,taipei, Taiwan, division of molecular genetic epidemiology,german cancer research center,heidelberg,germany,center for primary health care research,clinical research center,lund university,malmö, Sweden, department of oncology,norrlands university hospital,umeå, Sweden, department of oncology,norrlands university hospital,umeå, Sweden, department of oncology,norrlands university hospital,umeå, Sweden, department of public health and clinical medicine/nutritional research,umeå university,umeå, Sweden, department of public health and clinical medicine/nutritional research,umeå university,umeå, Sweden, departments of oncology,surgery,and the cancer center,landspitali-university hospital,reykjavik, Iceland, departments of oncology,surgery,and the cancer center,landspitali-university hospital,reykjavik, Iceland, decode genetics,reykjavik,iceland,departments of oncology,surgery,and the cancer center,landspitali-university hospital,reykjavik, Iceland, decode genetics,reykjavik, Iceland, decode genetics,reykjavik, Iceland, decode 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genomics center,rotterdam, Netherlands, department of laboratory medicine and pathology,department of health sciences research,mayo clinic,rochester,mn, United States, department of medicine and center for clinical cancer genetics,university of chicago,chicago,il, United States, decode genetics,reykjavik, Iceland, decode genetics,reykjavik, Iceland, decode genetics,reykjavik, Iceland, departments of oncology,surgery,and the cancer center,landspitali-university hospital,reykjavik, Iceland, decode genetics,reykjavik, Iceland
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Authors
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