The chromosome 2p21 region harbors a complex genetic architecture for association with risk for renal cell carcinoma
In follow-up of a recent genome-wide association study (GWAS) that identified a locus in chromosome 2p21 associated with risk for renal cell carcinoma (RCC), we conducted a fine mapping analysis of a 120 kb region that includes EPAS1. We genotyped 59 tagged common single-nucleotide polymorphisms (SN...
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| creator | Han, Summer S. Yeager, Meredith Moore, Lee E. Wei, Ming-Hui Pfeiffer, Ruth Toure, Ousmane Purdue, Mark P. Johansson, Mattias Scelo, Ghislaine Chung, Charles C. Gaborieau, Valerie Zaridze, David Schwartz, Kendra Szeszenia-Dabrowska, Neonilia Davis, Faith Bencko, Vladimir Colt, Joanne S. Janout, Vladimir Matveev, Vsevolod Foretova, Lenka Mates, Dana Navratilova, M. Boffetta, Paolo Berg, Christine D. Grubb, Robert L. Stevens, Victoria L. Thun, Michael J. Diver, W. Ryan Gapstur, Susan M. Albanes, Demetrius Weinstein, Stephanie J. Virtamo, Jarmo Burdett, Laurie Brisuda, Antonin McKay, James D. Fraumeni, Joseph F. Chatterjee, Nilanjan Rosenberg, Philip S. Rothman, Nathaniel Brennan, Paul Chow, Wong-Ho Tucker, Margaret A. Chanock, Stephen J. Toro, Jorge R. |
| description | In follow-up of a recent genome-wide association study (GWAS) that identified a locus in chromosome 2p21 associated with risk for renal cell carcinoma (RCC), we conducted a fine mapping analysis of a 120 kb region that includes EPAS1. We genotyped 59 tagged common single-nucleotide polymorphisms (SNPs) in 2278 RCC and 3719 controls of European background and observed a novel signal for rs9679290 [P = 5.75 × 10−8, per-allele odds ratio (OR) = 1.27, 95% confidence interval (CI): 1.17-1.39]. Imputation of common SNPs surrounding rs9679290 using HapMap 3 and 1000 Genomes data yielded two additional signals, rs4953346 (P = 4.09 × 10−14) and rs12617313 (P = 7.48 × 10−12), both highly correlated with rs9679290 (r
2 > 0.95), but interestingly not correlated with the two SNPs reported in the GWAS: rs11894252 and rs7579899 (r
2 < 0.1 with rs9679290). Genotype analysis of rs12617313 confirmed an association with RCC risk (P = 1.72 × 10−9, per-allele OR = 1.28, 95% CI: 1.18-1.39) In conclusion, we report that chromosome 2p21 harbors a complex genetic architecture for common RCC risk variants. |
| doi_str_mv | 10.1093/hmg/ddr551 |
| format | Article |
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2 > 0.95), but interestingly not correlated with the two SNPs reported in the GWAS: rs11894252 and rs7579899 (r
2 < 0.1 with rs9679290). Genotype analysis of rs12617313 confirmed an association with RCC risk (P = 1.72 × 10−9, per-allele OR = 1.28, 95% CI: 1.18-1.39) In conclusion, we report that chromosome 2p21 harbors a complex genetic architecture for common RCC risk variants.</description><identifier>ISSN: 0964-6906</identifier><identifier>EISSN: 1460-2083</identifier><identifier>DOI: 10.1093/hmg/ddr551</identifier><identifier>PMID: 22113997</identifier><language>eng</language><publisher>Oxford: Oxford University Press</publisher><subject>Association Studies ; Basic Helix-Loop-Helix Transcription Factors - genetics ; Carcinoma, Renal Cell - genetics ; Case-Control Studies ; Chromosome Mapping ; Chromosomes, Human, Pair 2 - genetics ; Female ; Genetic Predisposition to Disease ; Genotype ; Haplotypes ; HapMap Project ; Humans ; Kidney Neoplasms - genetics ; Male ; Polymorphism, Single Nucleotide ; Smoking</subject><ispartof>Human molecular genetics, 2012-03, Vol.21 (5), p.1190-1200</ispartof><rights>Published by Oxford University Press 2011 2012</rights><rights>2015 INIST-CNRS</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c469t-21aad52f5d62149091bfb4813bc4f9d575eb65d145d5840ee72ed025b05640c33</citedby><cites>FETCH-LOGICAL-c469t-21aad52f5d62149091bfb4813bc4f9d575eb65d145d5840ee72ed025b05640c33</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>230,314,776,780,881,1578,27901,27902</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=25548923$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/22113997$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Han, Summer S.</creatorcontrib><creatorcontrib>Yeager, Meredith</creatorcontrib><creatorcontrib>Moore, Lee E.</creatorcontrib><creatorcontrib>Wei, Ming-Hui</creatorcontrib><creatorcontrib>Pfeiffer, Ruth</creatorcontrib><creatorcontrib>Toure, Ousmane</creatorcontrib><creatorcontrib>Purdue, Mark P.</creatorcontrib><creatorcontrib>Johansson, Mattias</creatorcontrib><creatorcontrib>Scelo, Ghislaine</creatorcontrib><creatorcontrib>Chung, Charles C.</creatorcontrib><creatorcontrib>Gaborieau, Valerie</creatorcontrib><creatorcontrib>Zaridze, David</creatorcontrib><creatorcontrib>Schwartz, Kendra</creatorcontrib><creatorcontrib>Szeszenia-Dabrowska, Neonilia</creatorcontrib><creatorcontrib>Davis, Faith</creatorcontrib><creatorcontrib>Bencko, Vladimir</creatorcontrib><creatorcontrib>Colt, Joanne S.</creatorcontrib><creatorcontrib>Janout, Vladimir</creatorcontrib><creatorcontrib>Matveev, Vsevolod</creatorcontrib><creatorcontrib>Foretova, Lenka</creatorcontrib><creatorcontrib>Mates, Dana</creatorcontrib><creatorcontrib>Navratilova, M.</creatorcontrib><creatorcontrib>Boffetta, Paolo</creatorcontrib><creatorcontrib>Berg, Christine D.</creatorcontrib><creatorcontrib>Grubb, Robert L.</creatorcontrib><creatorcontrib>Stevens, Victoria L.</creatorcontrib><creatorcontrib>Thun, Michael J.</creatorcontrib><creatorcontrib>Diver, W. Ryan</creatorcontrib><creatorcontrib>Gapstur, Susan M.</creatorcontrib><creatorcontrib>Albanes, Demetrius</creatorcontrib><creatorcontrib>Weinstein, Stephanie J.</creatorcontrib><creatorcontrib>Virtamo, Jarmo</creatorcontrib><creatorcontrib>Burdett, Laurie</creatorcontrib><creatorcontrib>Brisuda, Antonin</creatorcontrib><creatorcontrib>McKay, James D.</creatorcontrib><creatorcontrib>Fraumeni, Joseph F.</creatorcontrib><creatorcontrib>Chatterjee, Nilanjan</creatorcontrib><creatorcontrib>Rosenberg, Philip S.</creatorcontrib><creatorcontrib>Rothman, Nathaniel</creatorcontrib><creatorcontrib>Brennan, Paul</creatorcontrib><creatorcontrib>Chow, Wong-Ho</creatorcontrib><creatorcontrib>Tucker, Margaret A.</creatorcontrib><creatorcontrib>Chanock, Stephen J.</creatorcontrib><creatorcontrib>Toro, Jorge R.</creatorcontrib><title>The chromosome 2p21 region harbors a complex genetic architecture for association with risk for renal cell carcinoma</title><title>Human molecular genetics</title><addtitle>Hum Mol Genet</addtitle><description>In follow-up of a recent genome-wide association study (GWAS) that identified a locus in chromosome 2p21 associated with risk for renal cell carcinoma (RCC), we conducted a fine mapping analysis of a 120 kb region that includes EPAS1. We genotyped 59 tagged common single-nucleotide polymorphisms (SNPs) in 2278 RCC and 3719 controls of European background and observed a novel signal for rs9679290 [P = 5.75 × 10−8, per-allele odds ratio (OR) = 1.27, 95% confidence interval (CI): 1.17-1.39]. Imputation of common SNPs surrounding rs9679290 using HapMap 3 and 1000 Genomes data yielded two additional signals, rs4953346 (P = 4.09 × 10−14) and rs12617313 (P = 7.48 × 10−12), both highly correlated with rs9679290 (r
2 > 0.95), but interestingly not correlated with the two SNPs reported in the GWAS: rs11894252 and rs7579899 (r
2 < 0.1 with rs9679290). Genotype analysis of rs12617313 confirmed an association with RCC risk (P = 1.72 × 10−9, per-allele OR = 1.28, 95% CI: 1.18-1.39) In conclusion, we report that chromosome 2p21 harbors a complex genetic architecture for common RCC risk variants.</description><subject>Association Studies</subject><subject>Basic Helix-Loop-Helix Transcription Factors - genetics</subject><subject>Carcinoma, Renal Cell - genetics</subject><subject>Case-Control Studies</subject><subject>Chromosome Mapping</subject><subject>Chromosomes, Human, Pair 2 - genetics</subject><subject>Female</subject><subject>Genetic Predisposition to Disease</subject><subject>Genotype</subject><subject>Haplotypes</subject><subject>HapMap Project</subject><subject>Humans</subject><subject>Kidney Neoplasms - genetics</subject><subject>Male</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Smoking</subject><issn>0964-6906</issn><issn>1460-2083</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2012</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkUtv1TAQhS0EorctG35A5Q1CQgr1O_EGCVWlIFVi064tx57cGJI4tR0e_7653EsLG9jMLOabM3N0EHpJyVtKND_vx-2590lK-gRtqFCkYqThT9GGaCUqpYk6Qsc5fyGEKsHr5-iIMUq51vUGlZsesOtTHGOOI2A2M4oTbEOccG9TG1PGFrs4zgP8wFuYoASHbXJ9KODKkgB3MWGbc3TBlt3a91B6nEL--muSYLIDdjCsZV0LUxztKXrW2SHDi0M_QbcfLm8uPlbXn68-Xby_rpxQulSMWusl66RXjApNNG27VjSUt0502staQqukp0J62QgCUDPwhMmWSCWI4_wEvdvrzks7gncwlWQHM6cw2vTTRBvM35Mp9GYbvxnO6ppTuQq8PgikeLdALmYMeefFThCXbLQUSjDCmv-TqwPWkJqu5Js96VLMOUH38A8lZpenWfM0-zxX-OxPBw_o7wBX4NUBsNnZoUt2ciE_clKKRjP-yMVl_tfBe4u7t7Y</recordid><startdate>20120301</startdate><enddate>20120301</enddate><creator>Han, Summer S.</creator><creator>Yeager, Meredith</creator><creator>Moore, Lee E.</creator><creator>Wei, Ming-Hui</creator><creator>Pfeiffer, Ruth</creator><creator>Toure, Ousmane</creator><creator>Purdue, Mark P.</creator><creator>Johansson, Mattias</creator><creator>Scelo, Ghislaine</creator><creator>Chung, Charles C.</creator><creator>Gaborieau, Valerie</creator><creator>Zaridze, David</creator><creator>Schwartz, Kendra</creator><creator>Szeszenia-Dabrowska, Neonilia</creator><creator>Davis, Faith</creator><creator>Bencko, Vladimir</creator><creator>Colt, Joanne S.</creator><creator>Janout, Vladimir</creator><creator>Matveev, Vsevolod</creator><creator>Foretova, Lenka</creator><creator>Mates, Dana</creator><creator>Navratilova, M.</creator><creator>Boffetta, Paolo</creator><creator>Berg, Christine D.</creator><creator>Grubb, Robert L.</creator><creator>Stevens, Victoria L.</creator><creator>Thun, Michael J.</creator><creator>Diver, W. 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Ryan ; Gapstur, Susan M. ; Albanes, Demetrius ; Weinstein, Stephanie J. ; Virtamo, Jarmo ; Burdett, Laurie ; Brisuda, Antonin ; McKay, James D. ; Fraumeni, Joseph F. ; Chatterjee, Nilanjan ; Rosenberg, Philip S. ; Rothman, Nathaniel ; Brennan, Paul ; Chow, Wong-Ho ; Tucker, Margaret A. ; Chanock, Stephen J. ; Toro, Jorge R.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c469t-21aad52f5d62149091bfb4813bc4f9d575eb65d145d5840ee72ed025b05640c33</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2012</creationdate><topic>Association Studies</topic><topic>Basic Helix-Loop-Helix Transcription Factors - genetics</topic><topic>Carcinoma, Renal Cell - genetics</topic><topic>Case-Control Studies</topic><topic>Chromosome Mapping</topic><topic>Chromosomes, Human, Pair 2 - genetics</topic><topic>Female</topic><topic>Genetic Predisposition to Disease</topic><topic>Genotype</topic><topic>Haplotypes</topic><topic>HapMap Project</topic><topic>Humans</topic><topic>Kidney Neoplasms - genetics</topic><topic>Male</topic><topic>Polymorphism, Single Nucleotide</topic><topic>Smoking</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Han, Summer S.</creatorcontrib><creatorcontrib>Yeager, Meredith</creatorcontrib><creatorcontrib>Moore, Lee E.</creatorcontrib><creatorcontrib>Wei, Ming-Hui</creatorcontrib><creatorcontrib>Pfeiffer, Ruth</creatorcontrib><creatorcontrib>Toure, Ousmane</creatorcontrib><creatorcontrib>Purdue, Mark P.</creatorcontrib><creatorcontrib>Johansson, Mattias</creatorcontrib><creatorcontrib>Scelo, Ghislaine</creatorcontrib><creatorcontrib>Chung, Charles C.</creatorcontrib><creatorcontrib>Gaborieau, Valerie</creatorcontrib><creatorcontrib>Zaridze, David</creatorcontrib><creatorcontrib>Schwartz, Kendra</creatorcontrib><creatorcontrib>Szeszenia-Dabrowska, Neonilia</creatorcontrib><creatorcontrib>Davis, Faith</creatorcontrib><creatorcontrib>Bencko, Vladimir</creatorcontrib><creatorcontrib>Colt, Joanne S.</creatorcontrib><creatorcontrib>Janout, Vladimir</creatorcontrib><creatorcontrib>Matveev, Vsevolod</creatorcontrib><creatorcontrib>Foretova, Lenka</creatorcontrib><creatorcontrib>Mates, Dana</creatorcontrib><creatorcontrib>Navratilova, M.</creatorcontrib><creatorcontrib>Boffetta, Paolo</creatorcontrib><creatorcontrib>Berg, Christine D.</creatorcontrib><creatorcontrib>Grubb, Robert L.</creatorcontrib><creatorcontrib>Stevens, Victoria L.</creatorcontrib><creatorcontrib>Thun, Michael J.</creatorcontrib><creatorcontrib>Diver, W. 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Ryan</au><au>Gapstur, Susan M.</au><au>Albanes, Demetrius</au><au>Weinstein, Stephanie J.</au><au>Virtamo, Jarmo</au><au>Burdett, Laurie</au><au>Brisuda, Antonin</au><au>McKay, James D.</au><au>Fraumeni, Joseph F.</au><au>Chatterjee, Nilanjan</au><au>Rosenberg, Philip S.</au><au>Rothman, Nathaniel</au><au>Brennan, Paul</au><au>Chow, Wong-Ho</au><au>Tucker, Margaret A.</au><au>Chanock, Stephen J.</au><au>Toro, Jorge R.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>The chromosome 2p21 region harbors a complex genetic architecture for association with risk for renal cell carcinoma</atitle><jtitle>Human molecular genetics</jtitle><addtitle>Hum Mol Genet</addtitle><date>2012-03-01</date><risdate>2012</risdate><volume>21</volume><issue>5</issue><spage>1190</spage><epage>1200</epage><pages>1190-1200</pages><issn>0964-6906</issn><eissn>1460-2083</eissn><abstract>In follow-up of a recent genome-wide association study (GWAS) that identified a locus in chromosome 2p21 associated with risk for renal cell carcinoma (RCC), we conducted a fine mapping analysis of a 120 kb region that includes EPAS1. We genotyped 59 tagged common single-nucleotide polymorphisms (SNPs) in 2278 RCC and 3719 controls of European background and observed a novel signal for rs9679290 [P = 5.75 × 10−8, per-allele odds ratio (OR) = 1.27, 95% confidence interval (CI): 1.17-1.39]. Imputation of common SNPs surrounding rs9679290 using HapMap 3 and 1000 Genomes data yielded two additional signals, rs4953346 (P = 4.09 × 10−14) and rs12617313 (P = 7.48 × 10−12), both highly correlated with rs9679290 (r
2 > 0.95), but interestingly not correlated with the two SNPs reported in the GWAS: rs11894252 and rs7579899 (r
2 < 0.1 with rs9679290). Genotype analysis of rs12617313 confirmed an association with RCC risk (P = 1.72 × 10−9, per-allele OR = 1.28, 95% CI: 1.18-1.39) In conclusion, we report that chromosome 2p21 harbors a complex genetic architecture for common RCC risk variants.</abstract><cop>Oxford</cop><pub>Oxford University Press</pub><pmid>22113997</pmid><doi>10.1093/hmg/ddr551</doi><tpages>11</tpages><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0964-6906 |
| ispartof | Human molecular genetics, 2012-03, Vol.21 (5), p.1190-1200 |
| issn | 0964-6906 1460-2083 |
| language | eng |
| recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3277315 |
| source | MEDLINE; Oxford Academic Journals (OUP); Alma/SFX Local Collection; EZB Electronic Journals Library |
| subjects | Association Studies Basic Helix-Loop-Helix Transcription Factors - genetics Carcinoma, Renal Cell - genetics Case-Control Studies Chromosome Mapping Chromosomes, Human, Pair 2 - genetics Female Genetic Predisposition to Disease Genotype Haplotypes HapMap Project Humans Kidney Neoplasms - genetics Male Polymorphism, Single Nucleotide Smoking |
| title | The chromosome 2p21 region harbors a complex genetic architecture for association with risk for renal cell carcinoma |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-02-04T19%3A16%3A16IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_pubme&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=The%20chromosome%202p21%20region%20harbors%20a%20complex%20genetic%20architecture%20for%20association%20with%20risk%20for%20renal%20cell%20carcinoma&rft.jtitle=Human%20molecular%20genetics&rft.au=Han,%20Summer%20S.&rft.date=2012-03-01&rft.volume=21&rft.issue=5&rft.spage=1190&rft.epage=1200&rft.pages=1190-1200&rft.issn=0964-6906&rft.eissn=1460-2083&rft_id=info:doi/10.1093/hmg/ddr551&rft_dat=%3Cproquest_pubme%3E954642028%3C/proquest_pubme%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=921428071&rft_id=info:pmid/22113997&rft_oup_id=10.1093/hmg/ddr551&rfr_iscdi=true |