Search: WFRF:(Hes Frederik J) > (2015) > Recurrent Coding Se...
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000 | 05534naa a2201033 4500 | |
001 | oai:lup.lub.lu.se:ec776600-f545-498e-8ad3-edbc8cae7f15 | |
003 | SwePub | |
008 | 160401s2015 | |||||||||||000 ||eng| | |
024 | 7 | a https://lup.lub.lu.se/record/82361242 URI |
024 | 7 | a https://doi.org/10.1038/srep162862 DOI |
040 | a (SwePub)lu | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a art2 swepub-publicationtype |
072 | 7 | a ref2 swepub-contenttype |
100 | 1 | a Timofeeva, Maria N4 aut |
245 | 1 0 | a Recurrent Coding Sequence Variation Explains Only A Small Fraction of the Genetic Architecture of Colorectal Cancer. |
264 | c 2015-11-10 | |
264 | 1 | b Springer Science and Business Media LLC,c 2015 |
520 | a Whilst common genetic variation in many non-coding genomic regulatory regions are known to impart risk of colorectal cancer (CRC), much of the heritability of CRC remains unexplained. To examine the role of recurrent coding sequence variation in CRC aetiology, we genotyped 12,638 CRCs cases and 29,045 controls from six European populations. Single-variant analysis identified a coding variant (rs3184504) in SH2B3 (12q24) associated with CRC risk (OR = 1.08, P = 3.9 × 10(-7)), and novel damaging coding variants in 3 genes previously tagged by GWAS efforts; rs16888728 (8q24) in UTP23 (OR = 1.15, P = 1.4 × 10(-7)); rs6580742 and rs12303082 (12q13) in FAM186A (OR = 1.11, P = 1.2 × 10(-7) and OR = 1.09, P = 7.4 × 10(-8)); rs1129406 (12q13) in ATF1 (OR = 1.11, P = 8.3 × 10(-9)), all reaching exome-wide significance levels. Gene based tests identified associations between CRC and PCDHGA genes (P < 2.90 × 10(-6)). We found an excess of rare, damaging variants in base-excision (P = 2.4 × 10(-4)) and DNA mismatch repair genes (P = 6.1 × 10(-4)) consistent with a recessive mode of inheritance. This study comprehensively explores the contribution of coding sequence variation to CRC risk, identifying associations with coding variation in 4 genes and PCDHG gene cluster and several candidate recessive alleles. However, these findings suggest that recurrent, low-frequency coding variants account for a minority of the unexplained heritability of CRC. | |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Cancer och onkologi0 (SwePub)302032 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Cancer and Oncology0 (SwePub)302032 hsv//eng |
700 | 1 | a Kinnersley, Ben4 aut |
700 | 1 | a Farrington, Susan M4 aut |
700 | 1 | a Whiffin, Nicola4 aut |
700 | 1 | a Palles, Claire4 aut |
700 | 1 | a Svinti, Victoria4 aut |
700 | 1 | a Lloyd, Amy4 aut |
700 | 1 | a Gorman, Maggie4 aut |
700 | 1 | a Ooi, Li-Yin4 aut |
700 | 1 | a Hosking, Fay4 aut |
700 | 1 | a Barclay, Ella4 aut |
700 | 1 | a Zgaga, Lina4 aut |
700 | 1 | a Dobbins, Sara4 aut |
700 | 1 | a Martin, Lynn4 aut |
700 | 1 | a Theodoratou, Evropi4 aut |
700 | 1 | a Broderick, Peter4 aut |
700 | 1 | a Tenesa, Albert4 aut |
700 | 1 | a Smillie, Claire4 aut |
700 | 1 | a Grimes, Graeme4 aut |
700 | 1 | a Hayward, Caroline4 aut |
700 | 1 | a Campbell, Archie4 aut |
700 | 1 | a Porteous, David4 aut |
700 | 1 | a Deary, Ian J4 aut |
700 | 1 | a Harris, Sarah E4 aut |
700 | 1 | a Northwood, Emma L4 aut |
700 | 1 | a Barrett, Jennifer H4 aut |
700 | 1 | a Smith, Gillian4 aut |
700 | 1 | a Wolf, Roland4 aut |
700 | 1 | a Forman, David4 aut |
700 | 1 | a Morreau, Hans4 aut |
700 | 1 | a Ruano, Dina4 aut |
700 | 1 | a Tops, Carli4 aut |
700 | 1 | a Wijnen, Juul4 aut |
700 | 1 | a Schrumpf, Melanie4 aut |
700 | 1 | a Boot, Arnoud4 aut |
700 | 1 | a Vasen, Hans F A4 aut |
700 | 1 | a Hes, Frederik J4 aut |
700 | 1 | a van Wezel, Tom4 aut |
700 | 1 | a Franke, Andre4 aut |
700 | 1 | a Lieb, Wolgang4 aut |
700 | 1 | a Schafmayer, Clemens4 aut |
700 | 1 | a Hampe, Jochen4 aut |
700 | 1 | a Buch, Stephan4 aut |
700 | 1 | a Propping, Peter4 aut |
700 | 1 | a Hemminki, Kariu Lund University,Lunds universitet,Allmänmedicin och klinisk epidemiologi,Forskargrupper vid Lunds universitet,Family Medicine and Clinical Epidemiology,Lund University Research Groups4 aut0 (Swepub:lu)med-khk |
700 | 1 | a Försti, Astau Lund University,Lunds universitet,Allmänmedicin och klinisk epidemiologi,Forskargrupper vid Lunds universitet,Family Medicine and Clinical Epidemiology,Lund University Research Groups4 aut0 (Swepub:lu)med-asf |
700 | 1 | a Westers, Helga4 aut |
700 | 1 | a Hofstra, Robert4 aut |
700 | 1 | a Pinheiro, Manuela4 aut |
700 | 1 | a Pinto, Carla4 aut |
700 | 1 | a Teixeira, Manuel4 aut |
700 | 1 | a Ruiz-Ponte, Clara4 aut |
700 | 1 | a Fernández-Rozadilla, Ceres4 aut |
700 | 1 | a Carracedo, Angel4 aut |
700 | 1 | a Castells, Antoni4 aut |
700 | 1 | a Castellví-Bel, Sergi4 aut |
700 | 1 | a Campbell, Harry4 aut |
700 | 1 | a Bishop, D Timothy4 aut |
700 | 1 | a Tomlinson, Ian P M4 aut |
700 | 1 | a Dunlop, Malcolm G4 aut |
700 | 1 | a Houlston, Richard S4 aut |
710 | 2 | a Allmänmedicin och klinisk epidemiologib Forskargrupper vid Lunds universitet4 org |
773 | 0 | t Scientific Reportsd : Springer Science and Business Media LLCg 5q 5x 2045-2322 |
856 | 4 | u http://www.ncbi.nlm.nih.gov/pubmed/26553438?dopt=Abstracty FULLTEXT |
856 | 4 | u http://dx.doi.org/10.1038/srep16286x freey FULLTEXT |
856 | 4 | u https://www.nature.com/articles/srep16286.pdf |
856 | 4 8 | u https://lup.lub.lu.se/record/8236124 |
856 | 4 8 | u https://doi.org/10.1038/srep16286 |
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