The TERT variant rs2736100 is associated with colorectal cancer risk.
BACKGROUND: Polymorphic variation at the 5p15.33 (TERT-CLPTM1L) locus is associated with the risk of many cancers but a relationship with colorectal cancer (CRC) risk has yet to be defined. METHODS: We used data from six genome-wide association studies (GWAS) of CRC, linkage disequilibrium mapping a...
| Main Authors: | , , , , , , , , , , , , |
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| Format: | Journal article |
| Language: | English |
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2012
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| _version_ | 1797076369117544448 |
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| author | Kinnersley, B Migliorini, G Broderick, P Whiffin, N Dobbins, SE Casey, G Hopper, J Sieber, O Lipton, L Kerr, D Dunlop, MG Tomlinson, I Houlston, R |
| author_facet | Kinnersley, B Migliorini, G Broderick, P Whiffin, N Dobbins, SE Casey, G Hopper, J Sieber, O Lipton, L Kerr, D Dunlop, MG Tomlinson, I Houlston, R |
| author_sort | Kinnersley, B |
| collection | OXFORD |
| description | BACKGROUND: Polymorphic variation at the 5p15.33 (TERT-CLPTM1L) locus is associated with the risk of many cancers but a relationship with colorectal cancer (CRC) risk has yet to be defined. METHODS: We used data from six genome-wide association studies (GWAS) of CRC, linkage disequilibrium mapping and imputation, to examine the relationship between 73 single-nucleotide polymorphisms at 5p15.33 and CRC risk in detail. RESULTS: rs2736100, which localises to intron 2 of TERT, provided the strongest evidence of an association with CRC (P=2.28 × 10⁻⁴). The association was also shown in an independent series of 10 047 CRC cases and 6918 controls (P=0.02). A meta-analysis of all seven studies (totalling 16 039 cases, 16 430 controls) provided increased evidence of association (P=2.49 × 10⁻⁵; per allele odds ratio=1.07). The association of rs2736100 on CRC risk was shown to be independent of 15 low-penetrance variants previously identified. CONCLUSION: The rs2736100 association demonstrates an influence of variation at 5p15.33 on CRC risk and further evidence that the 5p15.33 (TERT-CLPTM1L) locus has pleiotropic effects (reflecting generic or lineage-specific effects) on cancer risk. |
| first_indexed | 2024-03-07T00:02:59Z |
| format | Journal article |
| id | oxford-uuid:769cd892-36fa-4d49-9af6-202c04f7f026 |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-07T00:02:59Z |
| publishDate | 2012 |
| record_format | dspace |
| spelling | oxford-uuid:769cd892-36fa-4d49-9af6-202c04f7f0262022-03-26T20:17:19ZThe TERT variant rs2736100 is associated with colorectal cancer risk.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:769cd892-36fa-4d49-9af6-202c04f7f026EnglishSymplectic Elements at Oxford2012Kinnersley, BMigliorini, GBroderick, PWhiffin, NDobbins, SECasey, GHopper, JSieber, OLipton, LKerr, DDunlop, MGTomlinson, IHoulston, RBACKGROUND: Polymorphic variation at the 5p15.33 (TERT-CLPTM1L) locus is associated with the risk of many cancers but a relationship with colorectal cancer (CRC) risk has yet to be defined. METHODS: We used data from six genome-wide association studies (GWAS) of CRC, linkage disequilibrium mapping and imputation, to examine the relationship between 73 single-nucleotide polymorphisms at 5p15.33 and CRC risk in detail. RESULTS: rs2736100, which localises to intron 2 of TERT, provided the strongest evidence of an association with CRC (P=2.28 × 10⁻⁴). The association was also shown in an independent series of 10 047 CRC cases and 6918 controls (P=0.02). A meta-analysis of all seven studies (totalling 16 039 cases, 16 430 controls) provided increased evidence of association (P=2.49 × 10⁻⁵; per allele odds ratio=1.07). The association of rs2736100 on CRC risk was shown to be independent of 15 low-penetrance variants previously identified. CONCLUSION: The rs2736100 association demonstrates an influence of variation at 5p15.33 on CRC risk and further evidence that the 5p15.33 (TERT-CLPTM1L) locus has pleiotropic effects (reflecting generic or lineage-specific effects) on cancer risk. |
| spellingShingle | Kinnersley, B Migliorini, G Broderick, P Whiffin, N Dobbins, SE Casey, G Hopper, J Sieber, O Lipton, L Kerr, D Dunlop, MG Tomlinson, I Houlston, R The TERT variant rs2736100 is associated with colorectal cancer risk. |
| title | The TERT variant rs2736100 is associated with colorectal cancer risk. |
| title_full | The TERT variant rs2736100 is associated with colorectal cancer risk. |
| title_fullStr | The TERT variant rs2736100 is associated with colorectal cancer risk. |
| title_full_unstemmed | The TERT variant rs2736100 is associated with colorectal cancer risk. |
| title_short | The TERT variant rs2736100 is associated with colorectal cancer risk. |
| title_sort | tert variant rs2736100 is associated with colorectal cancer risk |
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