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Recurrent Coding Se...
Recurrent Coding Sequence Variation Explains Only A Small Fraction of the Genetic Architecture of Colorectal Cancer.
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Timofeeva, Maria N (author)
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Kinnersley, Ben (author)
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Farrington, Susan M (author)
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show more...
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Whiffin, Nicola (author)
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Palles, Claire (author)
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Svinti, Victoria (author)
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Lloyd, Amy (author)
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Gorman, Maggie (author)
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Ooi, Li-Yin (author)
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Hosking, Fay (author)
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Barclay, Ella (author)
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Zgaga, Lina (author)
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Dobbins, Sara (author)
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Martin, Lynn (author)
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Theodoratou, Evropi (author)
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Broderick, Peter (author)
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Tenesa, Albert (author)
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Smillie, Claire (author)
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Grimes, Graeme (author)
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Hayward, Caroline (author)
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Campbell, Archie (author)
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Porteous, David (author)
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Deary, Ian J (author)
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Harris, Sarah E (author)
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Northwood, Emma L (author)
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Barrett, Jennifer H (author)
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Smith, Gillian (author)
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Wolf, Roland (author)
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Forman, David (author)
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Morreau, Hans (author)
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Ruano, Dina (author)
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Tops, Carli (author)
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Wijnen, Juul (author)
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Schrumpf, Melanie (author)
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Boot, Arnoud (author)
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Vasen, Hans F A (author)
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Hes, Frederik J (author)
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van Wezel, Tom (author)
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Franke, Andre (author)
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Lieb, Wolgang (author)
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Schafmayer, Clemens (author)
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Hampe, Jochen (author)
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Buch, Stephan (author)
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Propping, Peter (author)
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- Hemminki, Kari (author)
- Lund University,Lunds universitet,Allmänmedicin och klinisk epidemiologi,Forskargrupper vid Lunds universitet,Family Medicine and Clinical Epidemiology,Lund University Research Groups
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- Försti, Asta (author)
- Lund University,Lunds universitet,Allmänmedicin och klinisk epidemiologi,Forskargrupper vid Lunds universitet,Family Medicine and Clinical Epidemiology,Lund University Research Groups
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Westers, Helga (author)
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Hofstra, Robert (author)
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Pinheiro, Manuela (author)
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Pinto, Carla (author)
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Teixeira, Manuel (author)
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Ruiz-Ponte, Clara (author)
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Fernández-Rozadilla, Ceres (author)
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Carracedo, Angel (author)
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Castells, Antoni (author)
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Castellví-Bel, Sergi (author)
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Campbell, Harry (author)
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Bishop, D Timothy (author)
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Tomlinson, Ian P M (author)
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Dunlop, Malcolm G (author)
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Houlston, Richard S (author)
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(creator_code:org_t)
- 2015-11-10
- 2015
- English.
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In: Scientific Reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 5
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http://www.ncbi.nlm....
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http://dx.doi.org/10... (free)
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https://www.nature.c...
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https://lup.lub.lu.s...
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https://doi.org/10.1...
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Abstract
Subject headings
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- 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
Publication and Content Type
- art (subject category)
- ref (subject category)
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To the university's database
- By the author/editor
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Timofeeva, Maria ...
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Kinnersley, Ben
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Farrington, Susa ...
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Whiffin, Nicola
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Palles, Claire
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Svinti, Victoria
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show more...
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Lloyd, Amy
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Gorman, Maggie
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Ooi, Li-Yin
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Hosking, Fay
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Barclay, Ella
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Zgaga, Lina
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Dobbins, Sara
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Martin, Lynn
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Theodoratou, Evr ...
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Broderick, Peter
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Tenesa, Albert
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Smillie, Claire
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Grimes, Graeme
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Hayward, Carolin ...
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Campbell, Archie
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Porteous, David
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Deary, Ian J
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Harris, Sarah E
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Northwood, Emma ...
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Barrett, Jennife ...
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Smith, Gillian
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Wolf, Roland
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Forman, David
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Morreau, Hans
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Ruano, Dina
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Tops, Carli
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Wijnen, Juul
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Schrumpf, Melani ...
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Boot, Arnoud
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Vasen, Hans F A
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Hes, Frederik J
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van Wezel, Tom
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Franke, Andre
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Lieb, Wolgang
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Schafmayer, Clem ...
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Hampe, Jochen
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Buch, Stephan
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Propping, Peter
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Hemminki, Kari
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Försti, Asta
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Westers, Helga
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Hofstra, Robert
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Pinheiro, Manuel ...
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Pinto, Carla
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Teixeira, Manuel
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Ruiz-Ponte, Clar ...
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Fernández-Rozadi ...
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Carracedo, Angel
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Castells, Antoni
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Castellví-Bel, S ...
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Campbell, Harry
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Bishop, D Timoth ...
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Tomlinson, Ian P ...
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Dunlop, Malcolm ...
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Houlston, Richar ...
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Cancer and Oncol ...
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Scientific Repor ...
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Lund University