@article{Bonas-Guarch:2018:10.1038/s41467-017-02380-9,
author = {Bonas-Guarch, S and Guindo-Martinez, M and Miguel-Escalada, I and Grarup, N and Sebastian, D and Rodriguez-Fos, E and Sanchez, F and Planas-Felix, M and Cortes-Sanchez, P and Gonzalez, S and Timshel, P and Pers, TH and Morgan, CC and Moran, I and Atla, G and Gonzalez, JR and Puiggros, M and Marti, J and Andersson, EA and Diaz, C and Badia, RM and Udler, M and Leong, A and Kaur, V and Flannick, J and Jorgensen, T and Linneberg, A and Jorgensen, ME and Witte, DR and Christensen, C and Brandslund, I and Appel, EV and Scott, RA and Luan, J and Langenberg, C and Wareham, NJ and Pedersen, O and Zorzano, A and Florez, JC and Hansen, T and Ferrer, J and Maria, Mercader J and Torrents, D},
doi = {10.1038/s41467-017-02380-9},
journal = {Nature Communications},
title = {Re-analysis of public genetic data reveals a rare X-chromosomal variant associated with type 2 diabetes},
url = {http://dx.doi.org/10.1038/s41467-017-02380-9},
volume = {9},
year = {2018}
}

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TY  - JOUR
AB  - 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, rs146662075, associated with a twofold increased risk for T2D in males. rs146662075 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.
AU  - Bonas-Guarch,S
AU  - Guindo-Martinez,M
AU  - Miguel-Escalada,I
AU  - Grarup,N
AU  - Sebastian,D
AU  - Rodriguez-Fos,E
AU  - Sanchez,F
AU  - Planas-Felix,M
AU  - Cortes-Sanchez,P
AU  - Gonzalez,S
AU  - Timshel,P
AU  - Pers,TH
AU  - Morgan,CC
AU  - Moran,I
AU  - Atla,G
AU  - Gonzalez,JR
AU  - Puiggros,M
AU  - Marti,J
AU  - Andersson,EA
AU  - Diaz,C
AU  - Badia,RM
AU  - Udler,M
AU  - Leong,A
AU  - Kaur,V
AU  - Flannick,J
AU  - Jorgensen,T
AU  - Linneberg,A
AU  - Jorgensen,ME
AU  - Witte,DR
AU  - Christensen,C
AU  - Brandslund,I
AU  - Appel,EV
AU  - Scott,RA
AU  - Luan,J
AU  - Langenberg,C
AU  - Wareham,NJ
AU  - Pedersen,O
AU  - Zorzano,A
AU  - Florez,JC
AU  - Hansen,T
AU  - Ferrer,J
AU  - Maria,Mercader J
AU  - Torrents,D
DO  - 10.1038/s41467-017-02380-9
PY  - 2018///
SN  - 2041-1723
TI  - Re-analysis of public genetic data reveals a rare X-chromosomal variant associated with type 2 diabetes
T2  - Nature Communications
UR  - http://dx.doi.org/10.1038/s41467-017-02380-9
UR  - http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000422916000001&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=1ba7043ffcc86c417c072aa74d649202
UR  - http://hdl.handle.net/10044/1/60808
VL  - 9
ER  - 

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