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Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma
To search for new sequence variants that confer risk of cutaneous basal cell carcinoma (BCC), we conducted a genome-wide association study of 38.5 million single nucleotide polymorphisms (SNPs) and small indels identified through whole-genome sequencing of 2230 Icelanders. We imputed genotypes for 4...
| Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Oxford University Press
2014
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4014188/ https://www.ncbi.nlm.nih.gov/pubmed/24403052 http://dx.doi.org/10.1093/hmg/ddt671 |
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| author | Stacey, Simon N. Sulem, Patrick Gudbjartsson, Daniel F. Jonasdottir, Aslaug Thorleifsson, Gudmar Gudjonsson, Sigurjon A. Masson, Gisli Gudmundsson, Julius Sigurgeirsson, Bardur Benediktsdottir, Kristrun R. Thorisdottir, Kristin Ragnarsson, Rafn Fuentelsaz, Victoria Corredera, Cristina Grasa, Matilde Planelles, Dolores Sanmartin, Onofre Rudnai, Peter Gurzau, Eugene Koppova, Kvetoslava Hemminki, Kari Nexø, Bjørn A Tjønneland, Anne Overvad, Kim Johannsdottir, Hrefna Helgadottir, Hafdis T. Thorsteinsdottir, Unnur Kong, Augustine Vogel, Ulla Kumar, Rajiv Nagore, Eduardo Mayordomo, José I. Rafnar, Thorunn Olafsson, Jon H. Stefansson, Kari |
| author_facet | Stacey, Simon N. Sulem, Patrick Gudbjartsson, Daniel F. Jonasdottir, Aslaug Thorleifsson, Gudmar Gudjonsson, Sigurjon A. Masson, Gisli Gudmundsson, Julius Sigurgeirsson, Bardur Benediktsdottir, Kristrun R. Thorisdottir, Kristin Ragnarsson, Rafn Fuentelsaz, Victoria Corredera, Cristina Grasa, Matilde Planelles, Dolores Sanmartin, Onofre Rudnai, Peter Gurzau, Eugene Koppova, Kvetoslava Hemminki, Kari Nexø, Bjørn A Tjønneland, Anne Overvad, Kim Johannsdottir, Hrefna Helgadottir, Hafdis T. Thorsteinsdottir, Unnur Kong, Augustine Vogel, Ulla Kumar, Rajiv Nagore, Eduardo Mayordomo, José I. Rafnar, Thorunn Olafsson, Jon H. Stefansson, Kari |
| author_sort | Stacey, Simon N. |
| collection | PubMed |
| description | To search for new sequence variants that confer risk of cutaneous basal cell carcinoma (BCC), we conducted a genome-wide association study of 38.5 million single nucleotide polymorphisms (SNPs) and small indels identified through whole-genome sequencing of 2230 Icelanders. We imputed genotypes for 4208 BCC patients and 109 408 controls using Illumina SNP chip typing data, carried out association tests and replicated the findings in independent population samples. We found new BCC susceptibility loci at TGM3 (rs214782[G], P = 5.5 × 10(−17), OR = 1.29) and RGS22 (rs7006527[C], P = 8.7 × 10(−13), OR = 0.77). TGM3 encodes transglutaminase type 3, which plays a key role in production of the cornified envelope during epidermal differentiation. |
| format | Online Article Text |
| id | pubmed-4014188 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2014 |
| publisher | Oxford University Press |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-40141882014-05-12 Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma Stacey, Simon N. Sulem, Patrick Gudbjartsson, Daniel F. Jonasdottir, Aslaug Thorleifsson, Gudmar Gudjonsson, Sigurjon A. Masson, Gisli Gudmundsson, Julius Sigurgeirsson, Bardur Benediktsdottir, Kristrun R. Thorisdottir, Kristin Ragnarsson, Rafn Fuentelsaz, Victoria Corredera, Cristina Grasa, Matilde Planelles, Dolores Sanmartin, Onofre Rudnai, Peter Gurzau, Eugene Koppova, Kvetoslava Hemminki, Kari Nexø, Bjørn A Tjønneland, Anne Overvad, Kim Johannsdottir, Hrefna Helgadottir, Hafdis T. Thorsteinsdottir, Unnur Kong, Augustine Vogel, Ulla Kumar, Rajiv Nagore, Eduardo Mayordomo, José I. Rafnar, Thorunn Olafsson, Jon H. Stefansson, Kari Hum Mol Genet Association Studies Articles To search for new sequence variants that confer risk of cutaneous basal cell carcinoma (BCC), we conducted a genome-wide association study of 38.5 million single nucleotide polymorphisms (SNPs) and small indels identified through whole-genome sequencing of 2230 Icelanders. We imputed genotypes for 4208 BCC patients and 109 408 controls using Illumina SNP chip typing data, carried out association tests and replicated the findings in independent population samples. We found new BCC susceptibility loci at TGM3 (rs214782[G], P = 5.5 × 10(−17), OR = 1.29) and RGS22 (rs7006527[C], P = 8.7 × 10(−13), OR = 0.77). TGM3 encodes transglutaminase type 3, which plays a key role in production of the cornified envelope during epidermal differentiation. Oxford University Press 2014-06-01 2014-01-08 /pmc/articles/PMC4014188/ /pubmed/24403052 http://dx.doi.org/10.1093/hmg/ddt671 Text en © The Author 2014. Published by Oxford University Press. http://creativecommons.org/licenses/by/3.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited. |
| spellingShingle | Association Studies Articles Stacey, Simon N. Sulem, Patrick Gudbjartsson, Daniel F. Jonasdottir, Aslaug Thorleifsson, Gudmar Gudjonsson, Sigurjon A. Masson, Gisli Gudmundsson, Julius Sigurgeirsson, Bardur Benediktsdottir, Kristrun R. Thorisdottir, Kristin Ragnarsson, Rafn Fuentelsaz, Victoria Corredera, Cristina Grasa, Matilde Planelles, Dolores Sanmartin, Onofre Rudnai, Peter Gurzau, Eugene Koppova, Kvetoslava Hemminki, Kari Nexø, Bjørn A Tjønneland, Anne Overvad, Kim Johannsdottir, Hrefna Helgadottir, Hafdis T. Thorsteinsdottir, Unnur Kong, Augustine Vogel, Ulla Kumar, Rajiv Nagore, Eduardo Mayordomo, José I. Rafnar, Thorunn Olafsson, Jon H. Stefansson, Kari Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma |
| title | Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma |
| title_full | Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma |
| title_fullStr | Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma |
| title_full_unstemmed | Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma |
| title_short | Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma |
| title_sort | germline sequence variants in tgm3 and rgs22 confer risk of basal cell carcinoma |
| topic | Association Studies Articles |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4014188/ https://www.ncbi.nlm.nih.gov/pubmed/24403052 http://dx.doi.org/10.1093/hmg/ddt671 |
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