Association of Caucasian-identified variants with colorectal cancer risk in Singapore Chinese
Genome-wide association studies (GWAS) in Caucasians have identified fourteen index single nucleotide polymorphisms (iSNPs) that influence colorectal cancer (CRC) risk. We investigated the role of eleven iSNPs or surrogate SNPs (sSNPs), in high linkage disequilibrium (LD, r(2)≥ 0.8) and within 100 k...
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| Veröffentlicht in: | PloS one 2012-08, Vol.7 (8), p.e42407-e42407 |
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| description | Genome-wide association studies (GWAS) in Caucasians have identified fourteen index single nucleotide polymorphisms (iSNPs) that influence colorectal cancer (CRC) risk.
We investigated the role of eleven iSNPs or surrogate SNPs (sSNPs), in high linkage disequilibrium (LD, r(2)≥ 0.8) and within 100 kb vicinity of iSNPs, in 2,000 age- and gender-matched Singapore Chinese (SCH) cases and controls.
Only iSNP rs6983267 at 8q24.21 and sSNPs rs6695584, rs11986063, rs3087967, rs2059254, and rs7226855 at 1q41, 8q23.3, 11q23.1, 16q22.1 and 18q21.1 respectively showed evidence of association with CRC risk, with odds ratios (OR) ranging from 1.13 to 1.40. sSNP rs827401 at 10p14 was associated with rectal cancer risk (OR = 0.74, 95% CI 0.63-0.88) but not disease prognosis (OR = 0.91, 95% CI 0.69-1.20). Interestingly, sSNP rs3087967 at 11q23.1 was associated with CRC risk in men (OR = 1.34, 95% CI 1.14-1.58) but not women (OR = 1.07, 95% CI: 0.88-1.29), suggesting a gender-specific role. Half of the Caucasian-identified variants, including the recently fine-mapped BMP pathway loci, BMP4, GREM1, BMP2 and LAMA 5, did not show any evidence for association with CRC in SCH (OR ~1; p-value >0.1). Comparing the results of this study with that of the Northern and Hong Kong Chinese, only variants at chromosomes 8q24.21, 10p14, 11q23.1 and 18q21.1 were replicated in at least two out of the three Chinese studies.
The contrasting results between Caucasians and Chinese could be due to different LD patterns and allelic frequencies or genetic heterogeneity. The results suggest that additional common variants contributing to CRC predisposition remained to be identified. |
| doi_str_mv | 10.1371/journal.pone.0042407 |
| format | Article |
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We investigated the role of eleven iSNPs or surrogate SNPs (sSNPs), in high linkage disequilibrium (LD, r(2)≥ 0.8) and within 100 kb vicinity of iSNPs, in 2,000 age- and gender-matched Singapore Chinese (SCH) cases and controls.
Only iSNP rs6983267 at 8q24.21 and sSNPs rs6695584, rs11986063, rs3087967, rs2059254, and rs7226855 at 1q41, 8q23.3, 11q23.1, 16q22.1 and 18q21.1 respectively showed evidence of association with CRC risk, with odds ratios (OR) ranging from 1.13 to 1.40. sSNP rs827401 at 10p14 was associated with rectal cancer risk (OR = 0.74, 95% CI 0.63-0.88) but not disease prognosis (OR = 0.91, 95% CI 0.69-1.20). Interestingly, sSNP rs3087967 at 11q23.1 was associated with CRC risk in men (OR = 1.34, 95% CI 1.14-1.58) but not women (OR = 1.07, 95% CI: 0.88-1.29), suggesting a gender-specific role. Half of the Caucasian-identified variants, including the recently fine-mapped BMP pathway loci, BMP4, GREM1, BMP2 and LAMA 5, did not show any evidence for association with CRC in SCH (OR ~1; p-value >0.1). Comparing the results of this study with that of the Northern and Hong Kong Chinese, only variants at chromosomes 8q24.21, 10p14, 11q23.1 and 18q21.1 were replicated in at least two out of the three Chinese studies.
The contrasting results between Caucasians and Chinese could be due to different LD patterns and allelic frequencies or genetic heterogeneity. The results suggest that additional common variants contributing to CRC predisposition remained to be identified.</description><identifier>ISSN: 1932-6203</identifier><identifier>EISSN: 1932-6203</identifier><identifier>DOI: 10.1371/journal.pone.0042407</identifier><identifier>PMID: 22879968</identifier><language>eng</language><publisher>United States: Public Library of Science</publisher><subject>Age ; Aged ; Aged, 80 and over ; Asian Continental Ancestry Group - genetics ; Biology ; Bone morphogenetic proteins ; Cancer ; Cancer research ; Case-Control Studies ; Chromosomes ; Colorectal cancer ; Colorectal carcinoma ; Colorectal Neoplasms - genetics ; Colorectal Neoplasms - pathology ; Colorectal surgery ; European Continental Ancestry Group - genetics ; Family medical history ; Female ; Gender ; Genetic Predisposition to Disease ; Genomes ; Health aspects ; Health care ; Health risks ; Hospitals ; Humans ; Linkage disequilibrium ; Linkage Disequilibrium - genetics ; Male ; Medical screening ; Medicine ; Middle Aged ; Polymorphism, Single Nucleotide - genetics ; Population ; Principal components analysis ; Public health ; Rectum ; Risk ; Risk Factors ; Singapore ; Single nucleotide polymorphisms ; Single-nucleotide polymorphism ; Statistical analysis ; White people</subject><ispartof>PloS one, 2012-08, Vol.7 (8), p.e42407-e42407</ispartof><rights>COPYRIGHT 2012 Public Library of Science</rights><rights>Thean 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 Thean et al 2012 Thean et al</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c692t-cd8316adc96213ebaf55e759923ea43d59485a0137e02c57ce13282524f121593</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3411754/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC3411754/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,727,780,784,864,885,2102,2928,23866,27924,27925,53791,53793,79600,79601</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/22879968$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><contributor>Toland, Amanda Ewart</contributor><creatorcontrib>Thean, Lai Fun</creatorcontrib><creatorcontrib>Li, Hui Hua</creatorcontrib><creatorcontrib>Teo, Yik Ying</creatorcontrib><creatorcontrib>Koh, Woon-Puay</creatorcontrib><creatorcontrib>Yuan, Jian-Min</creatorcontrib><creatorcontrib>Teoh, Mei Lin</creatorcontrib><creatorcontrib>Koh, Poh Koon</creatorcontrib><creatorcontrib>Tang, Choong Leong</creatorcontrib><creatorcontrib>Cheah, Peh Yean</creatorcontrib><title>Association of Caucasian-identified variants with colorectal cancer risk in Singapore Chinese</title><title>PloS one</title><addtitle>PLoS One</addtitle><description>Genome-wide association studies (GWAS) in Caucasians have identified fourteen index single nucleotide polymorphisms (iSNPs) that influence colorectal cancer (CRC) risk.
We investigated the role of eleven iSNPs or surrogate SNPs (sSNPs), in high linkage disequilibrium (LD, r(2)≥ 0.8) and within 100 kb vicinity of iSNPs, in 2,000 age- and gender-matched Singapore Chinese (SCH) cases and controls.
Only iSNP rs6983267 at 8q24.21 and sSNPs rs6695584, rs11986063, rs3087967, rs2059254, and rs7226855 at 1q41, 8q23.3, 11q23.1, 16q22.1 and 18q21.1 respectively showed evidence of association with CRC risk, with odds ratios (OR) ranging from 1.13 to 1.40. sSNP rs827401 at 10p14 was associated with rectal cancer risk (OR = 0.74, 95% CI 0.63-0.88) but not disease prognosis (OR = 0.91, 95% CI 0.69-1.20). Interestingly, sSNP rs3087967 at 11q23.1 was associated with CRC risk in men (OR = 1.34, 95% CI 1.14-1.58) but not women (OR = 1.07, 95% CI: 0.88-1.29), suggesting a gender-specific role. Half of the Caucasian-identified variants, including the recently fine-mapped BMP pathway loci, BMP4, GREM1, BMP2 and LAMA 5, did not show any evidence for association with CRC in SCH (OR ~1; p-value >0.1). Comparing the results of this study with that of the Northern and Hong Kong Chinese, only variants at chromosomes 8q24.21, 10p14, 11q23.1 and 18q21.1 were replicated in at least two out of the three Chinese studies.
The contrasting results between Caucasians and Chinese could be due to different LD patterns and allelic frequencies or genetic heterogeneity. The results suggest that additional common variants contributing to CRC predisposition remained to be identified.</description><subject>Age</subject><subject>Aged</subject><subject>Aged, 80 and over</subject><subject>Asian Continental Ancestry Group - genetics</subject><subject>Biology</subject><subject>Bone morphogenetic proteins</subject><subject>Cancer</subject><subject>Cancer research</subject><subject>Case-Control Studies</subject><subject>Chromosomes</subject><subject>Colorectal cancer</subject><subject>Colorectal carcinoma</subject><subject>Colorectal Neoplasms - genetics</subject><subject>Colorectal Neoplasms - pathology</subject><subject>Colorectal surgery</subject><subject>European Continental Ancestry Group - genetics</subject><subject>Family medical history</subject><subject>Female</subject><subject>Gender</subject><subject>Genetic Predisposition to Disease</subject><subject>Genomes</subject><subject>Health aspects</subject><subject>Health care</subject><subject>Health risks</subject><subject>Hospitals</subject><subject>Humans</subject><subject>Linkage disequilibrium</subject><subject>Linkage Disequilibrium - genetics</subject><subject>Male</subject><subject>Medical screening</subject><subject>Medicine</subject><subject>Middle Aged</subject><subject>Polymorphism, Single Nucleotide - genetics</subject><subject>Population</subject><subject>Principal components analysis</subject><subject>Public health</subject><subject>Rectum</subject><subject>Risk</subject><subject>Risk Factors</subject><subject>Singapore</subject><subject>Single nucleotide polymorphisms</subject><subject>Single-nucleotide polymorphism</subject><subject>Statistical analysis</subject><subject>White people</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>eNqNk02P0zAQhiMEYpfCP0AQCQnBocUfsZ1ckKqKj0orrcQCN2RNnUnrktrFThb497g0u2rQHnAOtsbPvJMZz2TZU0pmlCv6Zuv74KCd7b3DGSEFK4i6l53TirOpZITfPzmfZY9i3BIieCnlw-yMsVJVlSzPs2_zGL2x0Fnvct_kC-gNRAtuamt0nW0s1vk1hGTpYv7Tdpvc-NYHNB20uQFnMOTBxu-5dfmVdWvYp8t8sbEOIz7OHjTQRnwy7JPsy_t3nxcfpxeXH5aL-cXUyIp1U1OXnEqoTSUZ5biCRghUoqoYRyh4LaqiFEBS2kiYEcog5axkghUNZVRUfJI9P-ruWx_1UJmoEyUZkzytSbY8ErWHrd4Hu4PwW3uw-q_Bh7WG0FnToi5MIeuVUEqAKcyKVVhTJQ3njapNMiatt0O0frXD2qQ6BWhHouMbZzd67a81LyhVokgCrwaB4H_0GDu9s9Fg24JD36f_JpxTIWl6uUn24h_07uwGag0pAesan-Kag6iep3iccKEO1OwOKn017qxJbdTYZB85vB45JKbDX90a-hj18urT_7OXX8fsyxN2g9B2m-jb_tCEcQwWR9AEH2PA5rbIlOjDFNxUQx-mQA9TkNyenT7QrdNN2_M_lB0BUA</recordid><startdate>20120803</startdate><enddate>20120803</enddate><creator>Thean, Lai Fun</creator><creator>Li, Hui Hua</creator><creator>Teo, Yik Ying</creator><creator>Koh, Woon-Puay</creator><creator>Yuan, Jian-Min</creator><creator>Teoh, Mei Lin</creator><creator>Koh, Poh Koon</creator><creator>Tang, Choong Leong</creator><creator>Cheah, Peh Yean</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>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>20120803</creationdate><title>Association of Caucasian-identified variants with colorectal cancer risk in Singapore Chinese</title><author>Thean, Lai Fun ; Li, Hui Hua ; Teo, Yik Ying ; Koh, Woon-Puay ; Yuan, Jian-Min ; Teoh, Mei Lin ; Koh, Poh Koon ; Tang, Choong Leong ; Cheah, Peh Yean</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c692t-cd8316adc96213ebaf55e759923ea43d59485a0137e02c57ce13282524f121593</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2012</creationdate><topic>Age</topic><topic>Aged</topic><topic>Aged, 80 and over</topic><topic>Asian Continental Ancestry Group - 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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>Thean, Lai Fun</au><au>Li, Hui Hua</au><au>Teo, Yik Ying</au><au>Koh, Woon-Puay</au><au>Yuan, Jian-Min</au><au>Teoh, Mei Lin</au><au>Koh, Poh Koon</au><au>Tang, Choong Leong</au><au>Cheah, Peh Yean</au><au>Toland, Amanda Ewart</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Association of Caucasian-identified variants with colorectal cancer risk in Singapore Chinese</atitle><jtitle>PloS one</jtitle><addtitle>PLoS One</addtitle><date>2012-08-03</date><risdate>2012</risdate><volume>7</volume><issue>8</issue><spage>e42407</spage><epage>e42407</epage><pages>e42407-e42407</pages><issn>1932-6203</issn><eissn>1932-6203</eissn><abstract>Genome-wide association studies (GWAS) in Caucasians have identified fourteen index single nucleotide polymorphisms (iSNPs) that influence colorectal cancer (CRC) risk.
We investigated the role of eleven iSNPs or surrogate SNPs (sSNPs), in high linkage disequilibrium (LD, r(2)≥ 0.8) and within 100 kb vicinity of iSNPs, in 2,000 age- and gender-matched Singapore Chinese (SCH) cases and controls.
Only iSNP rs6983267 at 8q24.21 and sSNPs rs6695584, rs11986063, rs3087967, rs2059254, and rs7226855 at 1q41, 8q23.3, 11q23.1, 16q22.1 and 18q21.1 respectively showed evidence of association with CRC risk, with odds ratios (OR) ranging from 1.13 to 1.40. sSNP rs827401 at 10p14 was associated with rectal cancer risk (OR = 0.74, 95% CI 0.63-0.88) but not disease prognosis (OR = 0.91, 95% CI 0.69-1.20). Interestingly, sSNP rs3087967 at 11q23.1 was associated with CRC risk in men (OR = 1.34, 95% CI 1.14-1.58) but not women (OR = 1.07, 95% CI: 0.88-1.29), suggesting a gender-specific role. Half of the Caucasian-identified variants, including the recently fine-mapped BMP pathway loci, BMP4, GREM1, BMP2 and LAMA 5, did not show any evidence for association with CRC in SCH (OR ~1; p-value >0.1). Comparing the results of this study with that of the Northern and Hong Kong Chinese, only variants at chromosomes 8q24.21, 10p14, 11q23.1 and 18q21.1 were replicated in at least two out of the three Chinese studies.
The contrasting results between Caucasians and Chinese could be due to different LD patterns and allelic frequencies or genetic heterogeneity. The results suggest that additional common variants contributing to CRC predisposition remained to be identified.</abstract><cop>United States</cop><pub>Public Library of Science</pub><pmid>22879968</pmid><doi>10.1371/journal.pone.0042407</doi><tpages>e42407</tpages><oa>free_for_read</oa></addata></record> |
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| recordid | cdi_plos_journals_1326226333 |
| 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 | Age Aged Aged, 80 and over Asian Continental Ancestry Group - genetics Biology Bone morphogenetic proteins Cancer Cancer research Case-Control Studies Chromosomes Colorectal cancer Colorectal carcinoma Colorectal Neoplasms - genetics Colorectal Neoplasms - pathology Colorectal surgery European Continental Ancestry Group - genetics Family medical history Female Gender Genetic Predisposition to Disease Genomes Health aspects Health care Health risks Hospitals Humans Linkage disequilibrium Linkage Disequilibrium - genetics Male Medical screening Medicine Middle Aged Polymorphism, Single Nucleotide - genetics Population Principal components analysis Public health Rectum Risk Risk Factors Singapore Single nucleotide polymorphisms Single-nucleotide polymorphism Statistical analysis White people |
| title | Association of Caucasian-identified variants with colorectal cancer risk in Singapore Chinese |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-27T08%3A42%3A18IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-gale_plos_&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Association%20of%20Caucasian-identified%20variants%20with%20colorectal%20cancer%20risk%20in%20Singapore%20Chinese&rft.jtitle=PloS%20one&rft.au=Thean,%20Lai%20Fun&rft.date=2012-08-03&rft.volume=7&rft.issue=8&rft.spage=e42407&rft.epage=e42407&rft.pages=e42407-e42407&rft.issn=1932-6203&rft.eissn=1932-6203&rft_id=info:doi/10.1371/journal.pone.0042407&rft_dat=%3Cgale_plos_%3EA543303573%3C/gale_plos_%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=1326226333&rft_id=info:pmid/22879968&rft_galeid=A543303573&rft_doaj_id=oai_doaj_org_article_4c46db5775ac4cb29ed176c33f7dc75a&rfr_iscdi=true |