Re-analysis of public genetic data reveals a rare X-chromosomal variant associated with type 2 diabetes
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Author
Bonàs-Guarch, Sílvia
Guindo-Martínez, Marta
Miguel-Escalada, Irene
Grarup, Niels
Sebastian, 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 R.
Puiggros, Montserrat
Martí, Jonathan
Andersson, Ehm A.
Díaz, Carlos
Badia, Rosa M.
Kaur, Varindepal
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, Antonio
Hansen, Torben
Ferrer, Jorge
Mercader, Josep Maria
Torrents, David
Note: Order does not necessarily reflect citation order of authors.
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https://doi.org/10.1038/s41467-017-02380-9Metadata
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Bonàs-Guarch, S., M. Guindo-Martínez, I. Miguel-Escalada, N. Grarup, D. Sebastian, E. Rodriguez-Fos, F. Sánchez, et al. 2018. “Re-analysis of public genetic data reveals a rare X-chromosomal variant associated with type 2 diabetes.” Nature Communications 9 (1): 321. doi:10.1038/s41467-017-02380-9. http://dx.doi.org/10.1038/s41467-017-02380-9.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.Other Sources
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5778074/pdf/Terms of Use
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