Cargando…
Common variants in MMP20 at 11q22.2 predispose to 11q deletion and neuroblastoma risk
MYCN amplification and 11q deletion are two inversely correlated prognostic factors of poor outcome in neuroblastoma. Here we identify common variants at 11q22.2 within MMP20 that associate with neuroblastoma cases harboring 11q deletion (rs10895322), using GWAS in 113 European-American cases and 51...
| Autores principales: | , , , , , , , , , , , , , , , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2017
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5603517/ https://www.ncbi.nlm.nih.gov/pubmed/28924153 http://dx.doi.org/10.1038/s41467-017-00408-8 |
| _version_ | 1783264714097164288 |
|---|---|
| author | Chang, Xiao Zhao, Yan Hou, Cuiping Glessner, Joseph McDaniel, Lee Diamond, Maura A. Thomas, Kelly Li, Jin Wei, Zhi Liu, Yichuan Guo, Yiran Mentch, Frank D. Qiu, Haijun Kim, Cecilia Evans, Perry Vaksman, Zalman Diskin, Sharon J. Attiyeh, Edward F. Sleiman, Patrick Maris, John M. Hakonarson, Hakon |
| author_facet | Chang, Xiao Zhao, Yan Hou, Cuiping Glessner, Joseph McDaniel, Lee Diamond, Maura A. Thomas, Kelly Li, Jin Wei, Zhi Liu, Yichuan Guo, Yiran Mentch, Frank D. Qiu, Haijun Kim, Cecilia Evans, Perry Vaksman, Zalman Diskin, Sharon J. Attiyeh, Edward F. Sleiman, Patrick Maris, John M. Hakonarson, Hakon |
| author_sort | Chang, Xiao |
| collection | PubMed |
| description | MYCN amplification and 11q deletion are two inversely correlated prognostic factors of poor outcome in neuroblastoma. Here we identify common variants at 11q22.2 within MMP20 that associate with neuroblastoma cases harboring 11q deletion (rs10895322), using GWAS in 113 European-American cases and 5109 ancestry-matched controls. The association is replicated in 44 independent cases and 1902 controls. Our study yields novel insights into the genetic underpinnings of neuroblastoma, demonstrating that the inherited common variants reported contribute to the origin of intra-tumor genetic heterogeneity in neuroblastoma. |
| format | Online Article Text |
| id | pubmed-5603517 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2017 |
| publisher | Nature Publishing Group UK |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-56035172017-09-22 Common variants in MMP20 at 11q22.2 predispose to 11q deletion and neuroblastoma risk Chang, Xiao Zhao, Yan Hou, Cuiping Glessner, Joseph McDaniel, Lee Diamond, Maura A. Thomas, Kelly Li, Jin Wei, Zhi Liu, Yichuan Guo, Yiran Mentch, Frank D. Qiu, Haijun Kim, Cecilia Evans, Perry Vaksman, Zalman Diskin, Sharon J. Attiyeh, Edward F. Sleiman, Patrick Maris, John M. Hakonarson, Hakon Nat Commun Article MYCN amplification and 11q deletion are two inversely correlated prognostic factors of poor outcome in neuroblastoma. Here we identify common variants at 11q22.2 within MMP20 that associate with neuroblastoma cases harboring 11q deletion (rs10895322), using GWAS in 113 European-American cases and 5109 ancestry-matched controls. The association is replicated in 44 independent cases and 1902 controls. Our study yields novel insights into the genetic underpinnings of neuroblastoma, demonstrating that the inherited common variants reported contribute to the origin of intra-tumor genetic heterogeneity in neuroblastoma. Nature Publishing Group UK 2017-09-18 /pmc/articles/PMC5603517/ /pubmed/28924153 http://dx.doi.org/10.1038/s41467-017-00408-8 Text en © The Author(s) 2017 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/. |
| spellingShingle | Article Chang, Xiao Zhao, Yan Hou, Cuiping Glessner, Joseph McDaniel, Lee Diamond, Maura A. Thomas, Kelly Li, Jin Wei, Zhi Liu, Yichuan Guo, Yiran Mentch, Frank D. Qiu, Haijun Kim, Cecilia Evans, Perry Vaksman, Zalman Diskin, Sharon J. Attiyeh, Edward F. Sleiman, Patrick Maris, John M. Hakonarson, Hakon Common variants in MMP20 at 11q22.2 predispose to 11q deletion and neuroblastoma risk |
| title | Common variants in MMP20 at 11q22.2 predispose to 11q deletion and neuroblastoma risk |
| title_full | Common variants in MMP20 at 11q22.2 predispose to 11q deletion and neuroblastoma risk |
| title_fullStr | Common variants in MMP20 at 11q22.2 predispose to 11q deletion and neuroblastoma risk |
| title_full_unstemmed | Common variants in MMP20 at 11q22.2 predispose to 11q deletion and neuroblastoma risk |
| title_short | Common variants in MMP20 at 11q22.2 predispose to 11q deletion and neuroblastoma risk |
| title_sort | common variants in mmp20 at 11q22.2 predispose to 11q deletion and neuroblastoma risk |
| topic | Article |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5603517/ https://www.ncbi.nlm.nih.gov/pubmed/28924153 http://dx.doi.org/10.1038/s41467-017-00408-8 |
| work_keys_str_mv | AT changxiao commonvariantsinmmp20at11q222predisposeto11qdeletionandneuroblastomarisk AT zhaoyan commonvariantsinmmp20at11q222predisposeto11qdeletionandneuroblastomarisk AT houcuiping commonvariantsinmmp20at11q222predisposeto11qdeletionandneuroblastomarisk AT glessnerjoseph commonvariantsinmmp20at11q222predisposeto11qdeletionandneuroblastomarisk AT mcdaniellee commonvariantsinmmp20at11q222predisposeto11qdeletionandneuroblastomarisk AT diamondmauraa commonvariantsinmmp20at11q222predisposeto11qdeletionandneuroblastomarisk AT thomaskelly commonvariantsinmmp20at11q222predisposeto11qdeletionandneuroblastomarisk AT lijin commonvariantsinmmp20at11q222predisposeto11qdeletionandneuroblastomarisk AT weizhi commonvariantsinmmp20at11q222predisposeto11qdeletionandneuroblastomarisk AT liuyichuan commonvariantsinmmp20at11q222predisposeto11qdeletionandneuroblastomarisk AT guoyiran commonvariantsinmmp20at11q222predisposeto11qdeletionandneuroblastomarisk AT mentchfrankd commonvariantsinmmp20at11q222predisposeto11qdeletionandneuroblastomarisk AT qiuhaijun commonvariantsinmmp20at11q222predisposeto11qdeletionandneuroblastomarisk AT kimcecilia commonvariantsinmmp20at11q222predisposeto11qdeletionandneuroblastomarisk AT evansperry commonvariantsinmmp20at11q222predisposeto11qdeletionandneuroblastomarisk AT vaksmanzalman commonvariantsinmmp20at11q222predisposeto11qdeletionandneuroblastomarisk AT diskinsharonj commonvariantsinmmp20at11q222predisposeto11qdeletionandneuroblastomarisk AT attiyehedwardf commonvariantsinmmp20at11q222predisposeto11qdeletionandneuroblastomarisk AT sleimanpatrick commonvariantsinmmp20at11q222predisposeto11qdeletionandneuroblastomarisk AT marisjohnm commonvariantsinmmp20at11q222predisposeto11qdeletionandneuroblastomarisk AT hakonarsonhakon commonvariantsinmmp20at11q222predisposeto11qdeletionandneuroblastomarisk |