A common polymorphism near the ESR1 gene is associated with risk of breast cancer: evidence from a case-control study and a meta-analysis
Genome-wide association studies have reported that a polymorphism near the estrogen receptor gene (ESR1) (rs2046210) is associated with a risk of breast cancer, with the A allele conferring an increased risk. However, considering the controversial results from more recent replicated studies, we cond...
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| Veröffentlicht in: | PloS one 2012-12, Vol.7 (12), p.e52445-e52445 |
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| creator | Guo, Hui Ming, Jie Liu, Chunping Li, Zhi Zhang, Ning Cheng, Hongtao Wang, Wei Shi, Wei Shen, Na Zhao, Qunzi Li, Dapeng Yi, Pengfei Wang, Longqiang Wang, Rui Xin, Yue Zhao, Xiangwang Nie, Xiu Huang, Tao |
| description | Genome-wide association studies have reported that a polymorphism near the estrogen receptor gene (ESR1) (rs2046210) is associated with a risk of breast cancer, with the A allele conferring an increased risk. However, considering the controversial results from more recent replicated studies, we conducted a case-control study in an independent Chinese Han population and a meta-analysis to clarify the association of this polymorphism with breast cancer risk.
A hospital-based case-control study including 461 cases and 537 controls from a Chinese Han population was conducted initially, and this study showed that the rs2046210 A allele was significantly associated with breast cancer risk, with an OR of 1.32 (95% CI = 1.10-1.59). Subsequently, a meta-analysis integrating the current study and previous publications with a total of 53,379 cases and 55,493 controls was performed to further confirm our findings. Similarly, a significant association between this polymorphism and breast cancer risk was also observed in the overall population especially among Asians, with ORs for per A allele of 1.14 (95% CI = 1.10-1.18) in the overall population and 1.27 (95% CI = 1.23-1.31) in the Asian population.
Our results provide strong evidence to support that the common polymorphism near the ESR1 gene, rs2046210, is associated with an increased risk of breast cancer in Asian and European populations but not in Africans, although the biological mechanisms need to be further investigated. |
| doi_str_mv | 10.1371/journal.pone.0052445 |
| format | Article |
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A hospital-based case-control study including 461 cases and 537 controls from a Chinese Han population was conducted initially, and this study showed that the rs2046210 A allele was significantly associated with breast cancer risk, with an OR of 1.32 (95% CI = 1.10-1.59). Subsequently, a meta-analysis integrating the current study and previous publications with a total of 53,379 cases and 55,493 controls was performed to further confirm our findings. Similarly, a significant association between this polymorphism and breast cancer risk was also observed in the overall population especially among Asians, with ORs for per A allele of 1.14 (95% CI = 1.10-1.18) in the overall population and 1.27 (95% CI = 1.23-1.31) in the Asian population.
Our results provide strong evidence to support that the common polymorphism near the ESR1 gene, rs2046210, is associated with an increased risk of breast cancer in Asian and European populations but not in Africans, although the biological mechanisms need to be further investigated.</description><identifier>ISSN: 1932-6203</identifier><identifier>EISSN: 1932-6203</identifier><identifier>DOI: 10.1371/journal.pone.0052445</identifier><identifier>PMID: 23272245</identifier><language>eng</language><publisher>United States: Public Library of Science</publisher><subject>Adult ; Alleles ; Biology ; Biomarkers ; Breast cancer ; Breast Neoplasms - epidemiology ; Breast Neoplasms - genetics ; Cancer ; Cancer genetics ; Cancer research ; Case-Control Studies ; China - epidemiology ; China - ethnology ; Estrogen Receptor alpha - genetics ; Estrogen receptors ; Estrogens ; Female ; Gene polymorphism ; Genes ; Genetic aspects ; Genetic polymorphisms ; Genetic Predisposition to Disease ; Genome-wide association studies ; Genomes ; Genotype ; Health aspects ; Health care networks ; Health risks ; Humans ; Medicine ; Meta-analysis ; Middle Aged ; Mutation ; Polymorphism ; Polymorphism, Genetic ; Polymorphism, Single Nucleotide ; Population genetics ; Population Groups - genetics ; Publication Bias ; Risk ; Risk factors ; Science ; Stem cells ; Studies ; Surgery ; Thyroid gland ; Womens health</subject><ispartof>PloS one, 2012-12, Vol.7 (12), p.e52445-e52445</ispartof><rights>COPYRIGHT 2012 Public Library of Science</rights><rights>2012 Guo et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License: https://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>2012 Guo et al 2012 Guo et al</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c692t-8655a2904933e7254bcf6c7fb425e78ec23416388115422fc1e0a664fe0dc4303</citedby><cites>FETCH-LOGICAL-c692t-8655a2904933e7254bcf6c7fb425e78ec23416388115422fc1e0a664fe0dc4303</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3525547/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3525547/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,860,881,2095,2914,23846,27903,27904,53770,53772,79347,79348</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/23272245$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><contributor>Miao, Xiao-Ping</contributor><creatorcontrib>Guo, Hui</creatorcontrib><creatorcontrib>Ming, Jie</creatorcontrib><creatorcontrib>Liu, Chunping</creatorcontrib><creatorcontrib>Li, Zhi</creatorcontrib><creatorcontrib>Zhang, Ning</creatorcontrib><creatorcontrib>Cheng, Hongtao</creatorcontrib><creatorcontrib>Wang, Wei</creatorcontrib><creatorcontrib>Shi, Wei</creatorcontrib><creatorcontrib>Shen, Na</creatorcontrib><creatorcontrib>Zhao, Qunzi</creatorcontrib><creatorcontrib>Li, Dapeng</creatorcontrib><creatorcontrib>Yi, Pengfei</creatorcontrib><creatorcontrib>Wang, Longqiang</creatorcontrib><creatorcontrib>Wang, Rui</creatorcontrib><creatorcontrib>Xin, Yue</creatorcontrib><creatorcontrib>Zhao, Xiangwang</creatorcontrib><creatorcontrib>Nie, Xiu</creatorcontrib><creatorcontrib>Huang, Tao</creatorcontrib><title>A common polymorphism near the ESR1 gene is associated with risk of breast cancer: evidence from a case-control study and a meta-analysis</title><title>PloS one</title><addtitle>PLoS One</addtitle><description>Genome-wide association studies have reported that a polymorphism near the estrogen receptor gene (ESR1) (rs2046210) is associated with a risk of breast cancer, with the A allele conferring an increased risk. However, considering the controversial results from more recent replicated studies, we conducted a case-control study in an independent Chinese Han population and a meta-analysis to clarify the association of this polymorphism with breast cancer risk.
A hospital-based case-control study including 461 cases and 537 controls from a Chinese Han population was conducted initially, and this study showed that the rs2046210 A allele was significantly associated with breast cancer risk, with an OR of 1.32 (95% CI = 1.10-1.59). Subsequently, a meta-analysis integrating the current study and previous publications with a total of 53,379 cases and 55,493 controls was performed to further confirm our findings. Similarly, a significant association between this polymorphism and breast cancer risk was also observed in the overall population especially among Asians, with ORs for per A allele of 1.14 (95% CI = 1.10-1.18) in the overall population and 1.27 (95% CI = 1.23-1.31) in the Asian population.
Our results provide strong evidence to support that the common polymorphism near the ESR1 gene, rs2046210, is associated with an increased risk of breast cancer in Asian and European populations but not in Africans, although the biological mechanisms need to be further investigated.</description><subject>Adult</subject><subject>Alleles</subject><subject>Biology</subject><subject>Biomarkers</subject><subject>Breast cancer</subject><subject>Breast Neoplasms - epidemiology</subject><subject>Breast Neoplasms - genetics</subject><subject>Cancer</subject><subject>Cancer genetics</subject><subject>Cancer research</subject><subject>Case-Control Studies</subject><subject>China - epidemiology</subject><subject>China - ethnology</subject><subject>Estrogen Receptor alpha - genetics</subject><subject>Estrogen receptors</subject><subject>Estrogens</subject><subject>Female</subject><subject>Gene polymorphism</subject><subject>Genes</subject><subject>Genetic aspects</subject><subject>Genetic polymorphisms</subject><subject>Genetic Predisposition to Disease</subject><subject>Genome-wide association studies</subject><subject>Genomes</subject><subject>Genotype</subject><subject>Health aspects</subject><subject>Health care networks</subject><subject>Health risks</subject><subject>Humans</subject><subject>Medicine</subject><subject>Meta-analysis</subject><subject>Middle Aged</subject><subject>Mutation</subject><subject>Polymorphism</subject><subject>Polymorphism, Genetic</subject><subject>Polymorphism, Single Nucleotide</subject><subject>Population genetics</subject><subject>Population Groups - genetics</subject><subject>Publication Bias</subject><subject>Risk</subject><subject>Risk factors</subject><subject>Science</subject><subject>Stem cells</subject><subject>Studies</subject><subject>Surgery</subject><subject>Thyroid gland</subject><subject>Womens health</subject><issn>1932-6203</issn><issn>1932-6203</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2012</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><sourceid>DOA</sourceid><recordid>eNqNk9-KEzEUxgdR3LX6BqIBQfSiNf8z44VQllULCwu76m1IM2fa1JlJTTKrfQTf2tR2l1b2QnKRcPI7X3K-wymK5wRPCFPk3coPoTftZO17mGAsKOfiQXFKKkbHkmL28OB8UjyJcZUhVkr5uDihjCpKuTgtfk-R9V3ne7T27abzYb10sUM9mIDSEtD59RVBC-gBuYhMjN46k6BGP11aouDid-QbNA9gYkLW9BbCewQ3roZ8RE3wHTI5HmFsfZ-Cb1FMQ71Bpq_zRQfJjE0uYhNdfFo8akwb4dl-HxVfP55_Ofs8vrj8NDubXoytrGgal1IIQyvMK8ZAUcHntpFWNXNOBagSLGWcSFaWhAhOaWMJYCMlbwDXljPMRsXLne669VHvXYyaZEtIVWHJMjHbEbU3K70OrjNho71x-m_Ah4U2ITnbgjalxBaD5GpecWFkJQyrqVIEC6xKSrLWh_1rw7yD2kJ2wbRHosc3vVvqhb_RTFAhuMoCb_YCwf8YICbduWihbU0Pfsj_poopXKr88VHx6h_0_ur21MLkAlzf-Pyu3YrqKVdZR1WVyNTkHiqvGjqXewmNy_GjhLdHCdt-w6-0MEOMenZ99f_s5bdj9vUBuwTTpmX07ZCc7-MxyHegDT7GAM2dyQTr7cTcuqG3E6P3E5PTXhw26C7pdkTYH_kYD1g</recordid><startdate>20121218</startdate><enddate>20121218</enddate><creator>Guo, Hui</creator><creator>Ming, Jie</creator><creator>Liu, Chunping</creator><creator>Li, Zhi</creator><creator>Zhang, Ning</creator><creator>Cheng, Hongtao</creator><creator>Wang, Wei</creator><creator>Shi, Wei</creator><creator>Shen, Na</creator><creator>Zhao, Qunzi</creator><creator>Li, Dapeng</creator><creator>Yi, Pengfei</creator><creator>Wang, Longqiang</creator><creator>Wang, Rui</creator><creator>Xin, Yue</creator><creator>Zhao, Xiangwang</creator><creator>Nie, Xiu</creator><creator>Huang, Tao</creator><general>Public Library of Science</general><general>Public Library of Science (PLoS)</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>IOV</scope><scope>ISR</scope><scope>3V.</scope><scope>7QG</scope><scope>7QL</scope><scope>7QO</scope><scope>7RV</scope><scope>7SN</scope><scope>7SS</scope><scope>7T5</scope><scope>7TG</scope><scope>7TM</scope><scope>7U9</scope><scope>7X2</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8C1</scope><scope>8FD</scope><scope>8FE</scope><scope>8FG</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABJCF</scope><scope>ABUWG</scope><scope>AEUYN</scope><scope>AFKRA</scope><scope>ARAPS</scope><scope>ATCPS</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BGLVJ</scope><scope>BHPHI</scope><scope>C1K</scope><scope>CCPQU</scope><scope>D1I</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>H94</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>KB.</scope><scope>KB0</scope><scope>KL.</scope><scope>L6V</scope><scope>LK8</scope><scope>M0K</scope><scope>M0S</scope><scope>M1P</scope><scope>M7N</scope><scope>M7P</scope><scope>M7S</scope><scope>NAPCQ</scope><scope>P5Z</scope><scope>P62</scope><scope>P64</scope><scope>PATMY</scope><scope>PDBOC</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>PTHSS</scope><scope>PYCSY</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope><scope>DOA</scope></search><sort><creationdate>20121218</creationdate><title>A common polymorphism near the ESR1 gene is associated with risk of breast cancer: evidence from a case-control study and a meta-analysis</title><author>Guo, Hui ; Ming, Jie ; Liu, Chunping ; Li, Zhi ; Zhang, Ning ; Cheng, Hongtao ; Wang, Wei ; Shi, Wei ; Shen, Na ; Zhao, Qunzi ; Li, Dapeng ; Yi, Pengfei ; Wang, Longqiang ; Wang, Rui ; Xin, Yue ; Zhao, Xiangwang ; Nie, Xiu ; Huang, Tao</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c692t-8655a2904933e7254bcf6c7fb425e78ec23416388115422fc1e0a664fe0dc4303</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2012</creationdate><topic>Adult</topic><topic>Alleles</topic><topic>Biology</topic><topic>Biomarkers</topic><topic>Breast cancer</topic><topic>Breast Neoplasms - 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Academic</collection><collection>PubMed Central (Full Participant titles)</collection><collection>DOAJ Directory of Open Access Journals</collection><jtitle>PloS one</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Guo, Hui</au><au>Ming, Jie</au><au>Liu, Chunping</au><au>Li, Zhi</au><au>Zhang, Ning</au><au>Cheng, Hongtao</au><au>Wang, Wei</au><au>Shi, Wei</au><au>Shen, Na</au><au>Zhao, Qunzi</au><au>Li, Dapeng</au><au>Yi, Pengfei</au><au>Wang, Longqiang</au><au>Wang, Rui</au><au>Xin, Yue</au><au>Zhao, Xiangwang</au><au>Nie, Xiu</au><au>Huang, Tao</au><au>Miao, Xiao-Ping</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A common polymorphism near the ESR1 gene is associated with risk of breast cancer: evidence from a case-control study and a meta-analysis</atitle><jtitle>PloS one</jtitle><addtitle>PLoS One</addtitle><date>2012-12-18</date><risdate>2012</risdate><volume>7</volume><issue>12</issue><spage>e52445</spage><epage>e52445</epage><pages>e52445-e52445</pages><issn>1932-6203</issn><eissn>1932-6203</eissn><abstract>Genome-wide association studies have reported that a polymorphism near the estrogen receptor gene (ESR1) (rs2046210) is associated with a risk of breast cancer, with the A allele conferring an increased risk. However, considering the controversial results from more recent replicated studies, we conducted a case-control study in an independent Chinese Han population and a meta-analysis to clarify the association of this polymorphism with breast cancer risk.
A hospital-based case-control study including 461 cases and 537 controls from a Chinese Han population was conducted initially, and this study showed that the rs2046210 A allele was significantly associated with breast cancer risk, with an OR of 1.32 (95% CI = 1.10-1.59). Subsequently, a meta-analysis integrating the current study and previous publications with a total of 53,379 cases and 55,493 controls was performed to further confirm our findings. Similarly, a significant association between this polymorphism and breast cancer risk was also observed in the overall population especially among Asians, with ORs for per A allele of 1.14 (95% CI = 1.10-1.18) in the overall population and 1.27 (95% CI = 1.23-1.31) in the Asian population.
Our results provide strong evidence to support that the common polymorphism near the ESR1 gene, rs2046210, is associated with an increased risk of breast cancer in Asian and European populations but not in Africans, although the biological mechanisms need to be further investigated.</abstract><cop>United States</cop><pub>Public Library of Science</pub><pmid>23272245</pmid><doi>10.1371/journal.pone.0052445</doi><tpages>e52445</tpages><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1932-6203 |
| ispartof | PloS one, 2012-12, Vol.7 (12), p.e52445-e52445 |
| issn | 1932-6203 1932-6203 |
| language | eng |
| recordid | cdi_plos_journals_1327199063 |
| source | MEDLINE; DOAJ Directory of Open Access Journals; Public Library of Science (PLoS) Journals Open Access; EZB-FREE-00999 freely available EZB journals; PubMed Central; Free Full-Text Journals in Chemistry |
| subjects | Adult Alleles Biology Biomarkers Breast cancer Breast Neoplasms - epidemiology Breast Neoplasms - genetics Cancer Cancer genetics Cancer research Case-Control Studies China - epidemiology China - ethnology Estrogen Receptor alpha - genetics Estrogen receptors Estrogens Female Gene polymorphism Genes Genetic aspects Genetic polymorphisms Genetic Predisposition to Disease Genome-wide association studies Genomes Genotype Health aspects Health care networks Health risks Humans Medicine Meta-analysis Middle Aged Mutation Polymorphism Polymorphism, Genetic Polymorphism, Single Nucleotide Population genetics Population Groups - genetics Publication Bias Risk Risk factors Science Stem cells Studies Surgery Thyroid gland Womens health |
| title | A common polymorphism near the ESR1 gene is associated with risk of breast cancer: evidence from a case-control study and a meta-analysis |
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