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Multiple common variants for celiac disease influencing immune gene expression
We performed a second-generation genome wide association study of 4,533 celiac disease cases and 10,750 controls. We genotyped 113 selected SNPs with P(GWAS)<10(−4), and 18 SNPs from 14 known loci, in a further 4,918 cases and 5,684 controls. Variants from 13 new regions reached genome wide signi...
| Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
2010
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2847618/ https://www.ncbi.nlm.nih.gov/pubmed/20190752 http://dx.doi.org/10.1038/ng.543 |
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| author | Dubois, Patrick CA Trynka, Gosia Franke, Lude Hunt, Karen A Romanos, Jihane Curtotti, Alessandra Zhernakova, Alexandra Heap, Graham AR Ádány, Róza Aromaa, Arpo Bardella, Maria Teresa van den Berg, Leonard H Bockett, Nicholas A de la Concha, Emilio G. Dema, Bárbara Fehrmann, Rudolf SN Fernández-Arquero, Miguel Fiatal, Szilvia Grandone, Elvira Green, Peter M Groen, Harry JM Gwilliam, Rhian Houwen, Roderick HJ Hunt, Sarah E Kaukinen, Katri Kelleher, Dermot Korponay-Szabo, Ilma Kurppa, Kalle MacMathuna, Padraic Mäki, Markku Mazzilli, Maria Cristina McCann, Owen T Mearin, M Luisa Mein, Charles A Mirza, Muddassar M Mistry, Vanisha Mora, Barbara Morley, Katherine I Mulder, Chris J Murray, Joseph A Núñez, Concepción Oosterom, Elvira Ophoff, Roel A Polanco, Isabel Peltonen, Leena Platteel, Mathieu Rybak, Anna Salomaa, Veikko Schweizer, Joachim J Sperandeo, Maria Pia Tack, Greetje J Turner, Graham Veldink, Jan H Verbeek, Wieke HM Weersma, Rinse K Wolters, Victorien M Urcelay, Elena Cukrowska, Bozena Greco, Luigi Neuhausen, Susan L. McManus, Ross Barisani, Donatella Deloukas, Panos Barrett, Jeffrey C Saavalainen, Paivi Wijmenga, Cisca van Heel, David A |
| author_facet | Dubois, Patrick CA Trynka, Gosia Franke, Lude Hunt, Karen A Romanos, Jihane Curtotti, Alessandra Zhernakova, Alexandra Heap, Graham AR Ádány, Róza Aromaa, Arpo Bardella, Maria Teresa van den Berg, Leonard H Bockett, Nicholas A de la Concha, Emilio G. Dema, Bárbara Fehrmann, Rudolf SN Fernández-Arquero, Miguel Fiatal, Szilvia Grandone, Elvira Green, Peter M Groen, Harry JM Gwilliam, Rhian Houwen, Roderick HJ Hunt, Sarah E Kaukinen, Katri Kelleher, Dermot Korponay-Szabo, Ilma Kurppa, Kalle MacMathuna, Padraic Mäki, Markku Mazzilli, Maria Cristina McCann, Owen T Mearin, M Luisa Mein, Charles A Mirza, Muddassar M Mistry, Vanisha Mora, Barbara Morley, Katherine I Mulder, Chris J Murray, Joseph A Núñez, Concepción Oosterom, Elvira Ophoff, Roel A Polanco, Isabel Peltonen, Leena Platteel, Mathieu Rybak, Anna Salomaa, Veikko Schweizer, Joachim J Sperandeo, Maria Pia Tack, Greetje J Turner, Graham Veldink, Jan H Verbeek, Wieke HM Weersma, Rinse K Wolters, Victorien M Urcelay, Elena Cukrowska, Bozena Greco, Luigi Neuhausen, Susan L. McManus, Ross Barisani, Donatella Deloukas, Panos Barrett, Jeffrey C Saavalainen, Paivi Wijmenga, Cisca van Heel, David A |
| author_sort | Dubois, Patrick CA |
| collection | PubMed |
| description | We performed a second-generation genome wide association study of 4,533 celiac disease cases and 10,750 controls. We genotyped 113 selected SNPs with P(GWAS)<10(−4), and 18 SNPs from 14 known loci, in a further 4,918 cases and 5,684 controls. Variants from 13 new regions reached genome wide significance (P(combined)<5×10(−8)), most contain immune function genes (BACH2, CCR4, CD80, CIITA/SOCS1/CLEC16A, ICOSLG, ZMIZ1) with ETS1, RUNX3, THEMIS and TNFRSF14 playing key roles in thymic T cell selection. A further 13 regions had suggestive association evidence. In an expression quantitative trait meta-analysis of 1,469 whole blood samples, 20 of 38 (52.6%) tested loci had celiac risk variants correlated (P<0.0028, FDR 5%) with cis gene expression. |
| format | Text |
| id | pubmed-2847618 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2010 |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-28476182010-10-01 Multiple common variants for celiac disease influencing immune gene expression Dubois, Patrick CA Trynka, Gosia Franke, Lude Hunt, Karen A Romanos, Jihane Curtotti, Alessandra Zhernakova, Alexandra Heap, Graham AR Ádány, Róza Aromaa, Arpo Bardella, Maria Teresa van den Berg, Leonard H Bockett, Nicholas A de la Concha, Emilio G. Dema, Bárbara Fehrmann, Rudolf SN Fernández-Arquero, Miguel Fiatal, Szilvia Grandone, Elvira Green, Peter M Groen, Harry JM Gwilliam, Rhian Houwen, Roderick HJ Hunt, Sarah E Kaukinen, Katri Kelleher, Dermot Korponay-Szabo, Ilma Kurppa, Kalle MacMathuna, Padraic Mäki, Markku Mazzilli, Maria Cristina McCann, Owen T Mearin, M Luisa Mein, Charles A Mirza, Muddassar M Mistry, Vanisha Mora, Barbara Morley, Katherine I Mulder, Chris J Murray, Joseph A Núñez, Concepción Oosterom, Elvira Ophoff, Roel A Polanco, Isabel Peltonen, Leena Platteel, Mathieu Rybak, Anna Salomaa, Veikko Schweizer, Joachim J Sperandeo, Maria Pia Tack, Greetje J Turner, Graham Veldink, Jan H Verbeek, Wieke HM Weersma, Rinse K Wolters, Victorien M Urcelay, Elena Cukrowska, Bozena Greco, Luigi Neuhausen, Susan L. McManus, Ross Barisani, Donatella Deloukas, Panos Barrett, Jeffrey C Saavalainen, Paivi Wijmenga, Cisca van Heel, David A Nat Genet Article We performed a second-generation genome wide association study of 4,533 celiac disease cases and 10,750 controls. We genotyped 113 selected SNPs with P(GWAS)<10(−4), and 18 SNPs from 14 known loci, in a further 4,918 cases and 5,684 controls. Variants from 13 new regions reached genome wide significance (P(combined)<5×10(−8)), most contain immune function genes (BACH2, CCR4, CD80, CIITA/SOCS1/CLEC16A, ICOSLG, ZMIZ1) with ETS1, RUNX3, THEMIS and TNFRSF14 playing key roles in thymic T cell selection. A further 13 regions had suggestive association evidence. In an expression quantitative trait meta-analysis of 1,469 whole blood samples, 20 of 38 (52.6%) tested loci had celiac risk variants correlated (P<0.0028, FDR 5%) with cis gene expression. 2010-02-28 2010-04 /pmc/articles/PMC2847618/ /pubmed/20190752 http://dx.doi.org/10.1038/ng.543 Text en Users may view, print, copy, download and text and data- mine the content in such documents, for the purposes of academic research, subject always to the full Conditions of use: http://www.nature.com/authors/editorial_policies/license.html#terms |
| spellingShingle | Article Dubois, Patrick CA Trynka, Gosia Franke, Lude Hunt, Karen A Romanos, Jihane Curtotti, Alessandra Zhernakova, Alexandra Heap, Graham AR Ádány, Róza Aromaa, Arpo Bardella, Maria Teresa van den Berg, Leonard H Bockett, Nicholas A de la Concha, Emilio G. Dema, Bárbara Fehrmann, Rudolf SN Fernández-Arquero, Miguel Fiatal, Szilvia Grandone, Elvira Green, Peter M Groen, Harry JM Gwilliam, Rhian Houwen, Roderick HJ Hunt, Sarah E Kaukinen, Katri Kelleher, Dermot Korponay-Szabo, Ilma Kurppa, Kalle MacMathuna, Padraic Mäki, Markku Mazzilli, Maria Cristina McCann, Owen T Mearin, M Luisa Mein, Charles A Mirza, Muddassar M Mistry, Vanisha Mora, Barbara Morley, Katherine I Mulder, Chris J Murray, Joseph A Núñez, Concepción Oosterom, Elvira Ophoff, Roel A Polanco, Isabel Peltonen, Leena Platteel, Mathieu Rybak, Anna Salomaa, Veikko Schweizer, Joachim J Sperandeo, Maria Pia Tack, Greetje J Turner, Graham Veldink, Jan H Verbeek, Wieke HM Weersma, Rinse K Wolters, Victorien M Urcelay, Elena Cukrowska, Bozena Greco, Luigi Neuhausen, Susan L. McManus, Ross Barisani, Donatella Deloukas, Panos Barrett, Jeffrey C Saavalainen, Paivi Wijmenga, Cisca van Heel, David A Multiple common variants for celiac disease influencing immune gene expression |
| title | Multiple common variants for celiac disease influencing immune gene expression |
| title_full | Multiple common variants for celiac disease influencing immune gene expression |
| title_fullStr | Multiple common variants for celiac disease influencing immune gene expression |
| title_full_unstemmed | Multiple common variants for celiac disease influencing immune gene expression |
| title_short | Multiple common variants for celiac disease influencing immune gene expression |
| title_sort | multiple common variants for celiac disease influencing immune gene expression |
| topic | Article |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2847618/ https://www.ncbi.nlm.nih.gov/pubmed/20190752 http://dx.doi.org/10.1038/ng.543 |
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