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A genome-wide association study identifies genetic loci associated with specific lobar brain volumes
Brain lobar volumes are heritable but genetic studies are limited. We performed genome-wide association studies of frontal, occipital, parietal and temporal lobe volumes in 16,016 individuals, and replicated our findings in 8,789 individuals. We identified six genetic loci associated with specific l...
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group UK
2019
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6677735/ https://www.ncbi.nlm.nih.gov/pubmed/31396565 http://dx.doi.org/10.1038/s42003-019-0537-9 |
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| author | van der Lee, Sven J. Knol, Maria J. Chauhan, Ganesh Satizabal, Claudia L. Smith, Albert Vernon Hofer, Edith Bis, Joshua C. Hibar, Derrek P. Hilal, Saima van den Akker, Erik B. Arfanakis, Konstantinos Bernard, Manon Yanek, Lisa R. Amin, Najaf Crivello, Fabrice Cheung, Josh W. Harris, Tamara B. Saba, Yasaman Lopez, Oscar L. Li, Shuo van der Grond, Jeroen Yu, Lei Paus, Tomas Roshchupkin, Gennady V. Amouyel, Philippe Jahanshad, Neda Taylor, Kent D. Yang, Qiong Mathias, Rasika A. Boehringer, Stefan Mazoyer, Bernard Rice, Ken Cheng, Ching Yu Maillard, Pauline van Heemst, Diana Wong, Tien Yin Niessen, Wiro J. Beiser, Alexa S. Beekman, Marian Zhao, Wanting Nyquist, Paul A. Chen, Christopher Launer, Lenore J. Psaty, Bruce M. Ikram, M. Kamran Vernooij, Meike W. Schmidt, Helena Pausova, Zdenka Becker, Diane M. De Jager, Philip L. Thompson, Paul M. van Duijn, Cornelia M. Bennett, David A. Slagboom, P. Eline Schmidt, Reinhold Longstreth, W. T. Ikram, M. Arfan Seshadri, Sudha Debette, Stéphanie Gudnason, Vilmundur Adams, Hieab H. H. DeCarli, Charles |
| author_facet | van der Lee, Sven J. Knol, Maria J. Chauhan, Ganesh Satizabal, Claudia L. Smith, Albert Vernon Hofer, Edith Bis, Joshua C. Hibar, Derrek P. Hilal, Saima van den Akker, Erik B. Arfanakis, Konstantinos Bernard, Manon Yanek, Lisa R. Amin, Najaf Crivello, Fabrice Cheung, Josh W. Harris, Tamara B. Saba, Yasaman Lopez, Oscar L. Li, Shuo van der Grond, Jeroen Yu, Lei Paus, Tomas Roshchupkin, Gennady V. Amouyel, Philippe Jahanshad, Neda Taylor, Kent D. Yang, Qiong Mathias, Rasika A. Boehringer, Stefan Mazoyer, Bernard Rice, Ken Cheng, Ching Yu Maillard, Pauline van Heemst, Diana Wong, Tien Yin Niessen, Wiro J. Beiser, Alexa S. Beekman, Marian Zhao, Wanting Nyquist, Paul A. Chen, Christopher Launer, Lenore J. Psaty, Bruce M. Ikram, M. Kamran Vernooij, Meike W. Schmidt, Helena Pausova, Zdenka Becker, Diane M. De Jager, Philip L. Thompson, Paul M. van Duijn, Cornelia M. Bennett, David A. Slagboom, P. Eline Schmidt, Reinhold Longstreth, W. T. Ikram, M. Arfan Seshadri, Sudha Debette, Stéphanie Gudnason, Vilmundur Adams, Hieab H. H. DeCarli, Charles |
| author_sort | van der Lee, Sven J. |
| collection | PubMed |
| description | Brain lobar volumes are heritable but genetic studies are limited. We performed genome-wide association studies of frontal, occipital, parietal and temporal lobe volumes in 16,016 individuals, and replicated our findings in 8,789 individuals. We identified six genetic loci associated with specific lobar volumes independent of intracranial volume. Two loci, associated with occipital (6q22.32) and temporal lobe volume (12q14.3), were previously reported to associate with intracranial and hippocampal volume, respectively. We identified four loci previously unknown to affect brain volumes: 3q24 for parietal lobe volume, and 1q22, 4p16.3 and 14q23.1 for occipital lobe volume. The associated variants were located in regions enriched for histone modifications (DAAM1 and THBS3), or close to genes causing Mendelian brain-related diseases (ZIC4 and FGFRL1). No genetic overlap between lobar volumes and neurological or psychiatric diseases was observed. Our findings reveal part of the complex genetics underlying brain development and suggest a role for regulatory regions in determining brain volumes. |
| format | Online Article Text |
| id | pubmed-6677735 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2019 |
| publisher | Nature Publishing Group UK |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-66777352019-08-08 A genome-wide association study identifies genetic loci associated with specific lobar brain volumes van der Lee, Sven J. Knol, Maria J. Chauhan, Ganesh Satizabal, Claudia L. Smith, Albert Vernon Hofer, Edith Bis, Joshua C. Hibar, Derrek P. Hilal, Saima van den Akker, Erik B. Arfanakis, Konstantinos Bernard, Manon Yanek, Lisa R. Amin, Najaf Crivello, Fabrice Cheung, Josh W. Harris, Tamara B. Saba, Yasaman Lopez, Oscar L. Li, Shuo van der Grond, Jeroen Yu, Lei Paus, Tomas Roshchupkin, Gennady V. Amouyel, Philippe Jahanshad, Neda Taylor, Kent D. Yang, Qiong Mathias, Rasika A. Boehringer, Stefan Mazoyer, Bernard Rice, Ken Cheng, Ching Yu Maillard, Pauline van Heemst, Diana Wong, Tien Yin Niessen, Wiro J. Beiser, Alexa S. Beekman, Marian Zhao, Wanting Nyquist, Paul A. Chen, Christopher Launer, Lenore J. Psaty, Bruce M. Ikram, M. Kamran Vernooij, Meike W. Schmidt, Helena Pausova, Zdenka Becker, Diane M. De Jager, Philip L. Thompson, Paul M. van Duijn, Cornelia M. Bennett, David A. Slagboom, P. Eline Schmidt, Reinhold Longstreth, W. T. Ikram, M. Arfan Seshadri, Sudha Debette, Stéphanie Gudnason, Vilmundur Adams, Hieab H. H. DeCarli, Charles Commun Biol Article Brain lobar volumes are heritable but genetic studies are limited. We performed genome-wide association studies of frontal, occipital, parietal and temporal lobe volumes in 16,016 individuals, and replicated our findings in 8,789 individuals. We identified six genetic loci associated with specific lobar volumes independent of intracranial volume. Two loci, associated with occipital (6q22.32) and temporal lobe volume (12q14.3), were previously reported to associate with intracranial and hippocampal volume, respectively. We identified four loci previously unknown to affect brain volumes: 3q24 for parietal lobe volume, and 1q22, 4p16.3 and 14q23.1 for occipital lobe volume. The associated variants were located in regions enriched for histone modifications (DAAM1 and THBS3), or close to genes causing Mendelian brain-related diseases (ZIC4 and FGFRL1). No genetic overlap between lobar volumes and neurological or psychiatric diseases was observed. Our findings reveal part of the complex genetics underlying brain development and suggest a role for regulatory regions in determining brain volumes. Nature Publishing Group UK 2019-08-02 /pmc/articles/PMC6677735/ /pubmed/31396565 http://dx.doi.org/10.1038/s42003-019-0537-9 Text en © The Author(s) 2019 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 van der Lee, Sven J. Knol, Maria J. Chauhan, Ganesh Satizabal, Claudia L. Smith, Albert Vernon Hofer, Edith Bis, Joshua C. Hibar, Derrek P. Hilal, Saima van den Akker, Erik B. Arfanakis, Konstantinos Bernard, Manon Yanek, Lisa R. Amin, Najaf Crivello, Fabrice Cheung, Josh W. Harris, Tamara B. Saba, Yasaman Lopez, Oscar L. Li, Shuo van der Grond, Jeroen Yu, Lei Paus, Tomas Roshchupkin, Gennady V. Amouyel, Philippe Jahanshad, Neda Taylor, Kent D. Yang, Qiong Mathias, Rasika A. Boehringer, Stefan Mazoyer, Bernard Rice, Ken Cheng, Ching Yu Maillard, Pauline van Heemst, Diana Wong, Tien Yin Niessen, Wiro J. Beiser, Alexa S. Beekman, Marian Zhao, Wanting Nyquist, Paul A. Chen, Christopher Launer, Lenore J. Psaty, Bruce M. Ikram, M. Kamran Vernooij, Meike W. Schmidt, Helena Pausova, Zdenka Becker, Diane M. De Jager, Philip L. Thompson, Paul M. van Duijn, Cornelia M. Bennett, David A. Slagboom, P. Eline Schmidt, Reinhold Longstreth, W. T. Ikram, M. Arfan Seshadri, Sudha Debette, Stéphanie Gudnason, Vilmundur Adams, Hieab H. H. DeCarli, Charles A genome-wide association study identifies genetic loci associated with specific lobar brain volumes |
| title | A genome-wide association study identifies genetic loci associated with specific lobar brain volumes |
| title_full | A genome-wide association study identifies genetic loci associated with specific lobar brain volumes |
| title_fullStr | A genome-wide association study identifies genetic loci associated with specific lobar brain volumes |
| title_full_unstemmed | A genome-wide association study identifies genetic loci associated with specific lobar brain volumes |
| title_short | A genome-wide association study identifies genetic loci associated with specific lobar brain volumes |
| title_sort | genome-wide association study identifies genetic loci associated with specific lobar brain volumes |
| topic | Article |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6677735/ https://www.ncbi.nlm.nih.gov/pubmed/31396565 http://dx.doi.org/10.1038/s42003-019-0537-9 |
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