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Title: | Re-analysis of public genetic data reveals a rare X-chromosomal variant associated with type 2 diabetes |
Author: | Bonàs Guarch, Sílvia Guindo Martínez, Marta Miguel-Escalada, Irene Grarup, Niels Sebastián Muñoz, David Rodriguez-Fos, Elias Sánchez, Friman Planas-Fèlix, Mercè Cortes-Sánchez, Paula González, Santi Timshel, Pascal Pers, Tune H. Morgan, Claire C. Moran, Ignasi Atla, Goutham González, Juan Ramón Puiggròs, Montserrat Martí, Jonathan Andersson, Ehm A. Díaz, Carlos Badia, Rosa M. Udler, Miriam Leong, Aaron Kaur, Varindepal Flannick, Jason Jørgensen, Torben Linneberg, Allan Jørgensen, Marit E. Witte, Daniel R. Christensen, Cramer Brandslund, Ivan Appel, Emil V. Scott, Robert A. Luan, Jian'an Langenberg, Claudia Wareham, Nicholas J. Pedersen, Oluf Zorzano Olarte, Antonio Florez, Jose C. Hansen, Torben |
Keywords: | Diabetis Genètica humana Diabetes Human genetics |
Issue Date: | 22-Jan-2018 |
Publisher: | Nature Publishing Group |
Abstract: | The reanalysis of existing GWAS data represents a powerful and cost-effective opportunity to gain insights into the genetics of complex diseases. By reanalyzing publicly available type 2 diabetes (T2D) genome-wide association studies (GWAS) data for 70,127 subjects, we identify seven novel associated regions, five driven by common variants (LYPLAL1, NEUROG3, CAMKK2, ABO, and GIP genes), one by a low-frequency (EHMT2), and one driven by a rare variant in chromosome Xq23, rs146662057, associated with a twofold increased risk for T2D in males. rs146662057 is located within an active enhancer associated with the expression of Angiotensin II Receptor type 2 gene (AGTR2), a modulator of insulin sensitivity, and exhibits allelic specific activity in muscle cells. Beyond providing insights into the genetics and pathophysiology of T2D, these results also underscore the value of reanalyzing publicly available data using novel genetic resources and analytical approaches. |
Note: | Reproducció del document publicat a: https://doi.org/10.1038/s41467-017-02380-9 |
It is part of: | Nature Communications, 2018, vol. 9, num. 321 |
URI: | http://hdl.handle.net/2445/120954 |
Related resource: | https://doi.org/10.1038/s41467-017-02380-9 |
ISSN: | 2041-1723 |
Appears in Collections: | Articles publicats en revistes (ISGlobal) Articles publicats en revistes (Bioquímica i Biomedicina Molecular) Articles publicats en revistes (IDIBAPS: Institut d'investigacions Biomèdiques August Pi i Sunyer) Articles publicats en revistes (Institut de Recerca Biomèdica (IRB Barcelona)) Publicacions de projectes de recerca finançats per la UE |
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