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Re-analysis of public genetic data reveals a rare X-chromosomal variant associated with type 2 diabetes. / 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; 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, Antonio; Florez, Jose C; Hansen, Torben; Ferrer, Jorge; Mercader, Josep Maria; Torrents, David.
In:
Nature Communications, Vol. 9, 321, 22.01.2018.
Research output: Contribution to journal › Journal article › peer-review
Harvard
Bonàs-Guarch, S, Guindo-Martínez, M, Miguel-Escalada, I
, Grarup, N, Sebastian, D, Rodriguez-Fos, E, Sánchez, F, Planas-Fèlix, M, Cortes-Sánchez, P, González, S, Timshel, P
, Pers, TH, Morgan, CC, Moran, I, Atla, G, González, JR, Puiggros, M, Martí, J, Andersson, EA, Díaz, C, Badia, RM, Udler, M, Leong, A, Kaur, V, Flannick, J, Jørgensen, T
, Linneberg, A, Jørgensen, ME, Witte, DR, Christensen, C, Brandslund, I, Appel, EV, Scott, RA, Luan, J, Langenberg, C, Wareham, NJ
, Pedersen, O, Zorzano, A, Florez, JC
, Hansen, T, Ferrer, J, Mercader, JM & Torrents, D 2018, '
Re-analysis of public genetic data reveals a rare X-chromosomal variant associated with type 2 diabetes',
Nature Communications, vol. 9, 321.
https://doi.org/10.1038/s41467-017-02380-9
APA
Bonàs-Guarch, S., Guindo-Martínez, M., Miguel-Escalada, I.
, Grarup, N., Sebastian, D., Rodriguez-Fos, E., Sánchez, F., Planas-Fèlix, M., Cortes-Sánchez, P., González, S., Timshel, P.
, Pers, T. H., Morgan, C. C., Moran, I., Atla, G., González, J. R., Puiggros, M., Martí, J., Andersson, E. A., ... Torrents, D. (2018).
Re-analysis of public genetic data reveals a rare X-chromosomal variant associated with type 2 diabetes.
Nature Communications,
9, [321].
https://doi.org/10.1038/s41467-017-02380-9
Vancouver
Bonàs-Guarch S, Guindo-Martínez M, Miguel-Escalada I
, Grarup N, Sebastian D, Rodriguez-Fos E et al.
Re-analysis of public genetic data reveals a rare X-chromosomal variant associated with type 2 diabetes.
Nature Communications. 2018 Jan 22;9. 321.
https://doi.org/10.1038/s41467-017-02380-9
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 ; 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, Antonio ; Florez, Jose C ; Hansen, Torben ; Ferrer, Jorge ; Mercader, Josep Maria ; Torrents, David. / Re-analysis of public genetic data reveals a rare X-chromosomal variant associated with type 2 diabetes. In: Nature Communications. 2018 ; Vol. 9.
Bibtex
@article{7dc5909e082344b2a7c0d841ebb2189f,
title = "Re-analysis of public genetic data reveals a rare X-chromosomal variant associated with type 2 diabetes",
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.",
keywords = "Journal Article",
author = "S{\'i}lvia Bon{\`a}s-Guarch and Marta Guindo-Mart{\'i}nez and Irene Miguel-Escalada and Niels Grarup and David Sebastian and Elias Rodriguez-Fos and Friman S{\'a}nchez and Merc{\`e} Planas-F{\`e}lix and Paula Cortes-S{\'a}nchez and Santi Gonz{\'a}lez and Pascal Timshel and Pers, {Tune H} and Morgan, {Claire C} and Ignasi Moran and Goutham Atla and Gonz{\'a}lez, {Juan R} and Montserrat Puiggros and Jonathan Mart{\'i} and Andersson, {Ehm A} and Carlos D{\'i}az and Badia, {Rosa M} and Miriam Udler and Aaron Leong and Varindepal Kaur and Jason Flannick and Torben J{\o}rgensen and Allan Linneberg and J{\o}rgensen, {Marit E} and Witte, {Daniel R} and Cramer Christensen and Ivan Brandslund and Appel, {Emil V} and Scott, {Robert A} and Jian'an Luan and Claudia Langenberg and Wareham, {Nicholas J} and Oluf Pedersen and Antonio Zorzano and Florez, {Jose C} and Torben Hansen and Jorge Ferrer and Mercader, {Josep Maria} and David Torrents",
year = "2018",
month = jan,
day = "22",
doi = "10.1038/s41467-017-02380-9",
language = "English",
volume = "9",
journal = "Nature Communications",
issn = "2041-1723",
publisher = "nature publishing group",
}
RIS
TY - JOUR
T1 - Re-analysis of public genetic data reveals a rare X-chromosomal variant associated with type 2 diabetes
AU - Bonàs-Guarch, Sílvia
AU - Guindo-Martínez, Marta
AU - Miguel-Escalada, Irene
AU - Grarup, Niels
AU - Sebastian, David
AU - Rodriguez-Fos, Elias
AU - Sánchez, Friman
AU - Planas-Fèlix, Mercè
AU - Cortes-Sánchez, Paula
AU - González, Santi
AU - Timshel, Pascal
AU - Pers, Tune H
AU - Morgan, Claire C
AU - Moran, Ignasi
AU - Atla, Goutham
AU - González, Juan R
AU - Puiggros, Montserrat
AU - Martí, Jonathan
AU - Andersson, Ehm A
AU - Díaz, Carlos
AU - Badia, Rosa M
AU - Udler, Miriam
AU - Leong, Aaron
AU - Kaur, Varindepal
AU - Flannick, Jason
AU - Jørgensen, Torben
AU - Linneberg, Allan
AU - Jørgensen, Marit E
AU - Witte, Daniel R
AU - Christensen, Cramer
AU - Brandslund, Ivan
AU - Appel, Emil V
AU - Scott, Robert A
AU - Luan, Jian'an
AU - Langenberg, Claudia
AU - Wareham, Nicholas J
AU - Pedersen, Oluf
AU - Zorzano, Antonio
AU - Florez, Jose C
AU - Hansen, Torben
AU - Ferrer, Jorge
AU - Mercader, Josep Maria
AU - Torrents, David
PY - 2018/1/22
Y1 - 2018/1/22
N2 - 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.
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, 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.
KW - Journal Article
UR - https://www.nature.com/articles/s41467-018-04170-3.pdf
U2 - 10.1038/s41467-017-02380-9
DO - 10.1038/s41467-017-02380-9
M3 - Journal article
C2 - 29358691
VL - 9
JO - Nature Communications
JF - Nature Communications
SN - 2041-1723
M1 - 321
ER -