Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21.
In a genome-wide association study to identify loci associated with colorectal cancer (CRC) risk, we genotyped 555,510 SNPs in 1,012 early-onset Scottish CRC cases and 1,012 controls (phase 1). In phase 2, we genotyped the 15,008 highest-ranked SNPs in 2,057 Scottish cases and 2,111 controls. We the...
| Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , |
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| Format: | Journal article |
| Language: | English |
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2008
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| _version_ | 1797090473761832960 |
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| author | Tenesa, A Farrington, S Prendergast, J Porteous, M Walker, M Haq, N Barnetson, R Theodoratou, E Cetnarskyj, R Cartwright, N Semple, C Clark, A Reid, F Smith, L Kavoussanakis, K Koessler, T Pharoah, P Buch, S Schafmayer, C Tepel, J Schreiber, S Völzke, H Schmidt, C Hampe, J Chang-Claude, J |
| author_facet | Tenesa, A Farrington, S Prendergast, J Porteous, M Walker, M Haq, N Barnetson, R Theodoratou, E Cetnarskyj, R Cartwright, N Semple, C Clark, A Reid, F Smith, L Kavoussanakis, K Koessler, T Pharoah, P Buch, S Schafmayer, C Tepel, J Schreiber, S Völzke, H Schmidt, C Hampe, J Chang-Claude, J |
| author_sort | Tenesa, A |
| collection | OXFORD |
| description | In a genome-wide association study to identify loci associated with colorectal cancer (CRC) risk, we genotyped 555,510 SNPs in 1,012 early-onset Scottish CRC cases and 1,012 controls (phase 1). In phase 2, we genotyped the 15,008 highest-ranked SNPs in 2,057 Scottish cases and 2,111 controls. We then genotyped the five highest-ranked SNPs from the joint phase 1 and 2 analysis in 14,500 cases and 13,294 controls from seven populations, and identified a previously unreported association, rs3802842 on 11q23 (OR = 1.1; P = 5.8 x 10(-10)), showing population differences in risk. We also replicated and fine-mapped associations at 8q24 (rs7014346; OR = 1.19; P = 8.6 x 10(-26)) and 18q21 (rs4939827; OR = 1.2; P = 7.8 x 10(-28)). Risk was greater for rectal than for colon cancer for rs3802842 (P < 0.008) and rs4939827 (P < 0.009). Carrying all six possible risk alleles yielded OR = 2.6 (95% CI = 1.75-3.89) for CRC. These findings extend our understanding of the role of common genetic variation in CRC etiology. |
| first_indexed | 2024-03-07T03:19:07Z |
| format | Journal article |
| id | oxford-uuid:b6d398b0-36b7-4ac3-82e4-caa88825d191 |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-07T03:19:07Z |
| publishDate | 2008 |
| record_format | dspace |
| spelling | oxford-uuid:b6d398b0-36b7-4ac3-82e4-caa88825d1912022-03-27T04:43:54ZGenome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:b6d398b0-36b7-4ac3-82e4-caa88825d191EnglishSymplectic Elements at Oxford2008Tenesa, AFarrington, SPrendergast, JPorteous, MWalker, MHaq, NBarnetson, RTheodoratou, ECetnarskyj, RCartwright, NSemple, CClark, AReid, FSmith, LKavoussanakis, KKoessler, TPharoah, PBuch, SSchafmayer, CTepel, JSchreiber, SVölzke, HSchmidt, CHampe, JChang-Claude, JIn a genome-wide association study to identify loci associated with colorectal cancer (CRC) risk, we genotyped 555,510 SNPs in 1,012 early-onset Scottish CRC cases and 1,012 controls (phase 1). In phase 2, we genotyped the 15,008 highest-ranked SNPs in 2,057 Scottish cases and 2,111 controls. We then genotyped the five highest-ranked SNPs from the joint phase 1 and 2 analysis in 14,500 cases and 13,294 controls from seven populations, and identified a previously unreported association, rs3802842 on 11q23 (OR = 1.1; P = 5.8 x 10(-10)), showing population differences in risk. We also replicated and fine-mapped associations at 8q24 (rs7014346; OR = 1.19; P = 8.6 x 10(-26)) and 18q21 (rs4939827; OR = 1.2; P = 7.8 x 10(-28)). Risk was greater for rectal than for colon cancer for rs3802842 (P < 0.008) and rs4939827 (P < 0.009). Carrying all six possible risk alleles yielded OR = 2.6 (95% CI = 1.75-3.89) for CRC. These findings extend our understanding of the role of common genetic variation in CRC etiology. |
| spellingShingle | Tenesa, A Farrington, S Prendergast, J Porteous, M Walker, M Haq, N Barnetson, R Theodoratou, E Cetnarskyj, R Cartwright, N Semple, C Clark, A Reid, F Smith, L Kavoussanakis, K Koessler, T Pharoah, P Buch, S Schafmayer, C Tepel, J Schreiber, S Völzke, H Schmidt, C Hampe, J Chang-Claude, J Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21. |
| title | Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21. |
| title_full | Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21. |
| title_fullStr | Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21. |
| title_full_unstemmed | Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21. |
| title_short | Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21. |
| title_sort | genome wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21 |
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