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Article: Replication and functional genomic analyses of the breast cancer susceptibility locus at 6q25.1 generalize its importance in women of Chinese, Japanese, and European ancestry

TitleReplication and functional genomic analyses of the breast cancer susceptibility locus at 6q25.1 generalize its importance in women of Chinese, Japanese, and European ancestry
Authors
Issue Date2011
PublisherAmerican Association for Cancer Research. The Journal's web site is located at http://cancerres.aacrjournals.org/
Citation
Cancer Research, 2011, v. 71 n. 4, p. 1344-1355 How to Cite?
AbstractWe evaluated the generalizability of a single nucleotide polymorphism (SNP), rs2046210 (A/G allele), associated with breast cancer risk that was initially identified at 6q25.1 in a genome-wide association study conducted among Chinese women. In a pooled analysis of more than 31,000 women of East-Asian, European, and African ancestry, we found a positive association for rs2046210 and breast cancer risk in Chinesewomen [ORs (95% CI) = 1.30 (1.22-1.38) and 1.64 (1.50-1.80) for the AG and AA genotypes, respectively, P for trend = 1.54 × 10 -30], Japanese women [ORs (95% CI) = 1.31 (1.13-1.52) and 1.37 (1.06-1.76), P for trend = 2.51 × 10 -4], and European-ancestry American women [ORs (95% CI) = 1.07 (0.99-1.16) and 1.18 (1.04-1.34), P for trend = 0.0069]. No association with this SNP, however, was observed in African American women [ORs (95% CI) = 0.81 (0.63-1.06) and 0.85 (0.65-1.11) for the AG and AA genotypes, respectively, P for trend = 0.4027]. In vitro functional genomic studies identified a putative functional variant, rs6913578. This SNP is 1,440 bp downstream of rs2046210 and is in high linkage disequilibrium with rs2046210 in Chinese (r 2 = 0.91) and European-ancestry (r 2 = 0.83) populations, but not in Africans (r 2 = 0.57). SNP rs6913578 was found to be associated with breast cancer risk in Chinese and European-ancestry American women. After adjusting for rs2046210, the association of rs6913578 with breast cancer risk in African Americans approached borderline significance. Results from this large consortium study confirmed the association of rs2046210 with breast cancer risk among women of Chinese, Japanese, and European ancestry. This association may be explained in part by a putatively functional variant (rs6913578) identified in the region. ©2011 AACR.
Persistent Identifierhttp://hdl.handle.net/10722/137635
ISSN
2014 Impact Factor: 9.329
2013 SCImago Journal Rankings: 5.627
PubMed Central ID
ISI Accession Number ID
Funding AgencyGrant Number
US NIHR01CA124558
Vanderbilt-Ingram Cancer CenterP30CA68485
Shanghai Breast Cancer StudyR01CA64277
Nashville Breast Health StudyR01CA100374
Shanghai Breast Cancer Survival StudyR01CA118229
Shanghai Endometrial Cancer StudyR01CA92585
National Natural Science Foundation of China30771844
Nanjing Study, ChinaIRT0631
Taiwan Biobank StudDOH97-01
Hong Kong Study (Research Grant Council, Hong Kong SAR, China)HKU 7520/05M
76730M
Nagoya study (Ministry of Education, Culture, Sports, Science, and Technology of Japan)17015052
Ministry of Health, Labor and Welfare of JapanH20-002
Multiethnic Cohort StudyCA63464
CA54281
CA132839
Nagano Breast Cancer Study (Ministry of Education, Culture, Sports, Science, and Technology of Japan)17015049
Collaborative Breast Cancer Study including MassachusettsR01CA47305
WisconsinR01 CA47147
New Hampshire centersR01CA69664
Long Island Breast Cancer Study ProjectU01CA/ES66572
P30ES009089
P30ES010126
Southern Community Cohort StudyR01CA092447
Funding Information:

This research was supported by US NIH grant R01CA124558. The genotyping assays conducted at Vanderbilt University were done at the Survey and Biospecimen Core, which is supported in part by the Vanderbilt-Ingram Cancer Center (P30CA68485). Participating studies (Principal Investigator, grant support) of the consortium are as follows: the Shanghai Breast Cancer Study (W. Zheng, R01CA64277), the Nashville Breast Health Study (W. Zheng, R01CA100374), the Shanghai Breast Cancer Survival Study (X.O. Shu, R01CA118229), the Shanghai Endometrial Cancer Study (X.O. Shu, R01CA92585, contributed only controls to the consortium), the Tianjin Study (K. Chen, the National Natural Science Foundation of China Grant No. 30771844), the Nanjing Study (H. Shen, IRT0631, China), the Taiwan Biobank Study (C.-Y. Shen, DOH97-01), the Hong Kong Study (U.S. Khoo, Research Grant Council, Hong Kong SAR, China, HKU 7520/05M and 76730M), the Nagoya study (K. Tajima, Grants-in-Aid for Scientific Research on Priority Areas (17015052) from the Ministry of Education, Culture, Sports, Science, and Technology of Japan; H. Tanaka, Grants-in-Aid for the Third Term Comprehensive Ten-Year Strategy for Cancer Control from the Ministry of Health, Labor and Welfare of Japan, H20-002), the Multiethnic Cohort Study (B. E. Henderson, CA63464; L. Kolonel, CA54281; and C.A. Haiman, CA132839), the Nagano Breast Cancer Study [S. Tsugane, Grants-in-Aid for the Third Term Comprehensive Ten-Year Strategy for Cancer Control from the Ministry of Health, Labor and Welfare of Japan, and for Scientific Research on Priority Areas (17015049) from the Ministry of Education, Culture, Sports, Science, and Technology of Japan], the Collaborative Breast Cancer Study including Massachusetts (K.M. Egan, R01CA47305), Wisconsin (P.A. Newcomb, R01 CA47147) and New Hampshire (L. Titus-Ernstoff, R01CA69664) centers, the Long Island Breast Cancer Study Project (M. D. Gammon, U01CA/ES66572; R.M. Santella, P30ES009089; J.A. Swenberg, P30ES010126), and the Southern Community Cohort Study (W.J. Blot, R01CA092447). The content is solely the responsibility of the authors and does not necessarily represent the official views of the funding agencies.

References
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DC FieldValueLanguage
dc.contributor.authorCai, Qen_HK
dc.contributor.authorWen, Wen_HK
dc.contributor.authorQu, Sen_HK
dc.contributor.authorLi, Gen_HK
dc.contributor.authorEgan, KMen_HK
dc.contributor.authorChen, Ken_HK
dc.contributor.authorDeming, SLen_HK
dc.contributor.authorShen, Hen_HK
dc.contributor.authorShen, CYen_HK
dc.contributor.authorGammon, MDen_HK
dc.contributor.authorBlot, WJen_HK
dc.contributor.authorMatsuo, Ken_HK
dc.contributor.authorHaiman, CAen_HK
dc.contributor.authorKhoo, USen_HK
dc.contributor.authorIwasaki, Men_HK
dc.contributor.authorSantella, RMen_HK
dc.contributor.authorZhang, Len_HK
dc.contributor.authorFair, AMen_HK
dc.contributor.authorHu, Zen_HK
dc.contributor.authorWu, PEen_HK
dc.contributor.authorSignorello, LBen_HK
dc.contributor.authorTitusErnstoff, Len_HK
dc.contributor.authorTajima, Ken_HK
dc.contributor.authorHenderson, BEen_HK
dc.contributor.authorChan, KYKen_HK
dc.contributor.authorKasuga, Yen_HK
dc.contributor.authorNewcomb, PAen_HK
dc.contributor.authorZheng, Hen_HK
dc.contributor.authorCui, Yen_HK
dc.contributor.authorWang, Fen_HK
dc.contributor.authorShieh, YLen_HK
dc.contributor.authorIwata, Hen_HK
dc.contributor.authorLe Marchand, Len_HK
dc.contributor.authorChan, SYen_HK
dc.contributor.authorShrubsole, MJen_HK
dc.contributor.authorTrenthamDietz, Aen_HK
dc.contributor.authorTsugane, Sen_HK
dc.contributor.authorGarciaClosas, Men_HK
dc.contributor.authorLong, Jen_HK
dc.contributor.authorLi, Cen_HK
dc.contributor.authorShi, Jen_HK
dc.contributor.authorHuang, Ben_HK
dc.contributor.authorXiang, YBen_HK
dc.contributor.authorGao, YTen_HK
dc.contributor.authorLu, Wen_HK
dc.contributor.authorShu, XOen_HK
dc.contributor.authorZheng, Wen_HK
dc.date.accessioned2011-08-26T14:29:57Z-
dc.date.available2011-08-26T14:29:57Z-
dc.date.issued2011en_HK
dc.identifier.citationCancer Research, 2011, v. 71 n. 4, p. 1344-1355en_HK
dc.identifier.issn0008-5472en_HK
dc.identifier.urihttp://hdl.handle.net/10722/137635-
dc.description.abstractWe evaluated the generalizability of a single nucleotide polymorphism (SNP), rs2046210 (A/G allele), associated with breast cancer risk that was initially identified at 6q25.1 in a genome-wide association study conducted among Chinese women. In a pooled analysis of more than 31,000 women of East-Asian, European, and African ancestry, we found a positive association for rs2046210 and breast cancer risk in Chinesewomen [ORs (95% CI) = 1.30 (1.22-1.38) and 1.64 (1.50-1.80) for the AG and AA genotypes, respectively, P for trend = 1.54 × 10 -30], Japanese women [ORs (95% CI) = 1.31 (1.13-1.52) and 1.37 (1.06-1.76), P for trend = 2.51 × 10 -4], and European-ancestry American women [ORs (95% CI) = 1.07 (0.99-1.16) and 1.18 (1.04-1.34), P for trend = 0.0069]. No association with this SNP, however, was observed in African American women [ORs (95% CI) = 0.81 (0.63-1.06) and 0.85 (0.65-1.11) for the AG and AA genotypes, respectively, P for trend = 0.4027]. In vitro functional genomic studies identified a putative functional variant, rs6913578. This SNP is 1,440 bp downstream of rs2046210 and is in high linkage disequilibrium with rs2046210 in Chinese (r 2 = 0.91) and European-ancestry (r 2 = 0.83) populations, but not in Africans (r 2 = 0.57). SNP rs6913578 was found to be associated with breast cancer risk in Chinese and European-ancestry American women. After adjusting for rs2046210, the association of rs6913578 with breast cancer risk in African Americans approached borderline significance. Results from this large consortium study confirmed the association of rs2046210 with breast cancer risk among women of Chinese, Japanese, and European ancestry. This association may be explained in part by a putatively functional variant (rs6913578) identified in the region. ©2011 AACR.en_HK
dc.languageengen_US
dc.publisherAmerican Association for Cancer Research. The Journal's web site is located at http://cancerres.aacrjournals.org/en_HK
dc.relation.ispartofCancer Researchen_HK
dc.subject.meshAsian Continental Ancestry Group - genetics-
dc.subject.meshBreast Neoplasms - epidemiology - ethnology - genetics-
dc.subject.meshCarcinoma - epidemiology - ethnology - genetics-
dc.subject.meshChromosomes, Human, Pair 6 - genetics-
dc.subject.meshEuropean Continental Ancestry Group - genetics-
dc.titleReplication and functional genomic analyses of the breast cancer susceptibility locus at 6q25.1 generalize its importance in women of Chinese, Japanese, and European ancestryen_HK
dc.typeArticleen_HK
dc.identifier.emailKhoo, US:uskhoo@hkucc.hku.hken_HK
dc.identifier.authorityKhoo, US=rp00362en_HK
dc.description.naturelink_to_OA_fulltext-
dc.identifier.doi10.1158/0008-5472.CAN-10-2733en_HK
dc.identifier.pmid21303983-
dc.identifier.pmcidPMC3083305-
dc.identifier.scopuseid_2-s2.0-79951841312en_HK
dc.identifier.hkuros191720en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-79951841312&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume71en_HK
dc.identifier.issue4en_HK
dc.identifier.spage1344en_HK
dc.identifier.epage1355en_HK
dc.identifier.eissn1538-7445-
dc.identifier.isiWOS:000287352600017-
dc.publisher.placeUnited Statesen_HK
dc.relation.projectGene-based and haplotype analysis of the estrogen receptor genes for breast cancer susceptibility-

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