Semantic Scholar Open Access 2016 1047 sitasi

The genetic architecture of type 2 diabetes

C. Fuchsberger J. Flannick T. Teslovich A. Mahajan Vineeta Agarwala +296 lainnya

Lihat Sumber DOI

Abstrak

The genetic architecture of common traits, including the number, frequency, and effect sizes of inherited variants that contribute to individual risk, has been long debated. Genome-wide association studies have identified scores of common variants associated with type 2 diabetes, but in aggregate, these explain only a fraction of the heritability of this disease. Here, to test the hypothesis that lower-frequency variants explain much of the remainder, the GoT2D and T2D-GENES consortia performed whole-genome sequencing in 2,657 European individuals with and without diabetes, and exome sequencing in 12,940 individuals from five ancestry groups. To increase statistical power, we expanded the sample size via genotyping and imputation in a further 111,548 subjects. Variants associated with type 2 diabetes after sequencing were overwhelmingly common and most fell within regions previously identified by genome-wide association studies. Comprehensive enumeration of sequence variation is necessary to identify functional alleles that provide important clues to disease pathophysiology, but large-scale sequencing does not support the idea that lower-frequency variants have a major role in predisposition to type 2 diabetes.

Topik & Kata Kunci

Biology

Penulis (301)

C. Fuchsberger

J. Flannick

T. Teslovich

A. Mahajan

Vineeta Agarwala

K. Gaulton

Clement Ma

P. Fontanillas

L. Moutsianas

Davis J. McCarthy

M. Rivas

J. Perry

X. Sim

T. Blackwell

N. Robertson

N. Rayner

P. Cingolani

A. Locke

J. Fernandez Tajes

H. Highland

J. Dupuis

P. Chines

C. Lindgren

C. Hartl

A. Jackson

Han Chen

J. Huyghe

M. van de Bunt

R. Pearson

Ashish Kumar

M. Müller-Nurasyid

N. Grarup

H. Stringham

E. Gamazon

Jaehoon Lee

Yuhui Chen

R. Scott

J. Below

Peng Chen

Jinyan Huang

M. Go

M. Stitzel

D. Pasko

Stephen C. J. Parker

T. Varga

Todd Green

N. Beer

A. Day-Williams

T. Ferreira

T. Fingerlin

M. Horikoshi

Cheng Hu

Iksoo Huh

M. Ikram

Bong-Jo Kim

Yongkang Kim

Y. J. Kim

Min-Seok Kwon

Juyoung Lee

Selyeong Lee

Keng-Han Lin

Taylor J. Maxwell

Yoshihiko Nagai

Xu Wang

R. Welch

Joon Yoon

Weihua Zhang

N. Barzilai

B. Voight

B. Han

C. Jenkinson

T. Kuulasmaa

J. Kuusisto

A. Manning

M. Ng

N. Palmer

B. Balkau

A. Stančáková

H. Abboud

H. Boeing

V. Giedraitis

D. Prabhakaran

O. Gottesman

J. Scott

Jason P. Carey

P. Kwan

George B. Grant

Joshua D. Smith

B. Neale

S. Purcell

A. Butterworth

J. Howson

Heung Man Lee

Yingchang Lu

S. Kwak

Wei Zhao

J. Danesh

V. Lam

K. Park

D. Saleheen

W. So

C. H. Tam

U. Afzal

D. Aguilar

R. Arya

T. Aung

E. Chan

C. Navarro

Ching-Yu Cheng

D. Palli

A. Correa

J. Curran

Denis Rybin

V. Farook

Sharon P Fowler

B. Freedman

M. Griswold

D. Hale

P. Hicks

C. Khor

Satish Kumar

B. Lehne

Dorothée Thuillier

W. Lim

Jianjun Liu

Y. T. van der Schouw

M. Loh

S. Musani

Sobha Puppala

W. Scott

L. Yengo

S. Tan

H. Taylor

F. Thameem

G. Wilson

T. Wong

P. Njølstad

J. Levy

M. Mangino

L. Bonnycastle

T. Schwarzmayr

J. Fadista

G. Surdulescu

C. Herder

C. Groves

T. Wieland

J. Bork-Jensen

I. Brandslund

C. Christensen

H. Koistinen

A. Doney

L. Kinnunen

T. Esko

A. Farmer

L. Hakaste

Dylan Hodgkiss

J. Kravic

V. Lyssenko

Mette Hollensted

M. Jørgensen

T. Jørgensen

C. Ladenvall

J. Justesen

Annemari Käräjämäki

J. Kriebel

W. Rathmann

L. Lannfelt

T. Lauritzen

Narisu Narisu

A. Linneberg

O. Melander

L. Milani

M. Neville

M. Orho-Melander

L. Qi

Q. Qi

M. Roden

O. Rolandsson

A. Swift

A. Rosengren

K. Stirrups

A. Wood

E. Mihailov

C. Blancher

Mauricio O. Carneiro

J. Maguire

R. Poplin

Khalid Shakir

T. Fennell

M. DePristo

M. H. de Angelis

P. Deloukas

A. Gjesing

G. Jun

P. Nilsson

Jacquelyn Murphy

R. Onofrio

B. Thorand

T. Hansen

C. Meisinger

F. Hu

B. Isomaa

F. Karpe

L. Liang

A. Peters

C. Huth

S. O’Rahilly

C. Palmer

O. Pedersen

R. Rauramaa

J. Tuomilehto

V. Salomaa

R. Watanabe

A. Syvänen

R. Bergman

D. Bharadwaj

E. Bottinger

Y. Cho

G. Chandak

J. Chan

K. Chia

M. Daly

S. Ebrahim

C. Langenberg

P. Elliott

K. Jablonski

D. Lehman

W. Jia

R. Ma

T. Pollin

M. Sandhu

N. Tandon

P. Froguel

I. Barroso

Y. Teo

E. Zeggini

R. Loos

K. Small

J. Ried

R. DeFronzo

H. Grallert

B. Glaser

A. Metspalu

N. Wareham

M. Walker

E. Banks

C. Gieger

E. Ingelsson

H. Im

T. Illig

P. Franks

Gemma Buck

J. Trakalo

D. Buck

I. Prokopenko

R. Mägi

L. Lind

Y. Farjoun

K. Owen

A. Gloyn

K. Strauch

T. Tuomi

J. Kooner

Jong-Young Lee

T. Park

P. Donnelly

A. Morris

A. Hattersley

D. Bowden

F. Collins

G. Atzmon

J. Chambers

T. Spector

M. Laakso

T. Strom

G. Bell

J. Blangero

R. Duggirala

E. Tai

G. McVean

C. Hanis

James G. Wilson

Mark Seielstad

T. Frayling

J. Meigs

N. Cox

R. Sladek

E. Lander

S. Gabriel

N. Burtt

K. Mohlke

T. Meitinger

L. Groop

G. Abecasis

J. Florez

L. Scott

A. Morris

H. Kang

M. Boehnke

D. Altshuler

M. McCarthy

Format Sitasi

APA MLA BibTeX

Fuchsberger, C., Flannick, J., Teslovich, T., Mahajan, A., Agarwala, V., Gaulton, K. et al. (2016). The genetic architecture of type 2 diabetes. https://doi.org/10.1038/nature18642

@article{fuchsberger2016, author = {C. Fuchsberger and J. Flannick and T. Teslovich and A. Mahajan and Vineeta Agarwala and K. Gaulton and Clement Ma and P. Fontanillas and L. Moutsianas and Davis J. McCarthy and M. Rivas and J. Perry and X. Sim and T. Blackwell and N. Robertson and N. Rayner and P. Cingolani and A. Locke and J. Fernandez Tajes and H. Highland and J. Dupuis and P. Chines and C. Lindgren and C. Hartl and A. Jackson and Han Chen and J. Huyghe and M. van de Bunt and R. Pearson and Ashish Kumar and M. Müller-Nurasyid and N. Grarup and H. Stringham and E. Gamazon and Jaehoon Lee and Yuhui Chen and R. Scott and J. Below and Peng Chen and Jinyan Huang and M. Go and M. Stitzel and D. Pasko and Stephen C. J. Parker and T. Varga and Todd Green and N. Beer and A. Day-Williams and T. Ferreira and T. Fingerlin and M. Horikoshi and Cheng Hu and Iksoo Huh and M. Ikram and Bong-Jo Kim and Yongkang Kim and Y. J. Kim and Min-Seok Kwon and Juyoung Lee and Selyeong Lee and Keng-Han Lin and Taylor J. Maxwell and Yoshihiko Nagai and Xu Wang and R. Welch and Joon Yoon and Weihua Zhang and N. Barzilai and B. Voight and B. Han and C. Jenkinson and T. Kuulasmaa and J. Kuusisto and A. Manning and M. Ng and N. Palmer and B. Balkau and A. Stančáková and H. Abboud and H. Boeing and V. Giedraitis and D. Prabhakaran and O. Gottesman and J. Scott and Jason P. Carey and P. Kwan and George B. Grant and Joshua D. Smith and B. Neale and S. Purcell and A. Butterworth and J. Howson and Heung Man Lee and Yingchang Lu and S. Kwak and Wei Zhao and J. Danesh and V. Lam and K. Park and D. Saleheen and W. So and C. H. Tam and U. Afzal and D. Aguilar and R. Arya and T. Aung and E. Chan and C. Navarro and Ching-Yu Cheng and D. Palli and A. Correa and J. Curran and Denis Rybin and V. Farook and Sharon P Fowler and B. Freedman and M. Griswold and D. Hale and P. Hicks and C. Khor and Satish Kumar and B. Lehne and Dorothée Thuillier and W. Lim and Jianjun Liu and Y. T. van der Schouw and M. Loh and S. Musani and Sobha Puppala and W. Scott and L. Yengo and S. Tan and H. Taylor and F. Thameem and G. Wilson and T. Wong and P. Njølstad and J. Levy and M. Mangino and L. Bonnycastle and T. Schwarzmayr and J. Fadista and G. Surdulescu and C. Herder and C. Groves and T. Wieland and J. Bork-Jensen and I. Brandslund and C. Christensen and H. Koistinen and A. Doney and L. Kinnunen and T. Esko and A. Farmer and L. Hakaste and Dylan Hodgkiss and J. Kravic and V. Lyssenko and Mette Hollensted and M. Jørgensen and T. Jørgensen and C. Ladenvall and J. Justesen and Annemari Käräjämäki and J. Kriebel and W. Rathmann and L. Lannfelt and T. Lauritzen and Narisu Narisu and A. Linneberg and O. Melander and L. Milani and M. Neville and M. Orho-Melander and L. Qi and Q. Qi and M. Roden and O. Rolandsson and A. Swift and A. Rosengren and K. Stirrups and A. Wood and E. Mihailov and C. Blancher and Mauricio O. Carneiro and J. Maguire and R. Poplin and Khalid Shakir and T. Fennell and M. DePristo and M. H. de Angelis and P. Deloukas and A. Gjesing and G. Jun and P. Nilsson and Jacquelyn Murphy and R. Onofrio and B. Thorand and T. Hansen and C. Meisinger and F. Hu and B. Isomaa and F. Karpe and L. Liang and A. Peters and C. Huth and S. O’Rahilly and C. Palmer and O. Pedersen and R. Rauramaa and J. Tuomilehto and V. Salomaa and R. Watanabe and A. Syvänen and R. Bergman and D. Bharadwaj and E. Bottinger and Y. Cho and G. Chandak and J. Chan and K. Chia and M. Daly and S. Ebrahim and C. Langenberg and P. Elliott and K. Jablonski and D. Lehman and W. Jia and R. Ma and T. Pollin and M. Sandhu and N. Tandon and P. Froguel and I. Barroso and Y. Teo and E. Zeggini and R. Loos and K. Small and J. Ried and R. DeFronzo and H. Grallert and B. Glaser and A. Metspalu and N. Wareham and M. Walker and E. Banks and C. Gieger and E. Ingelsson and H. Im and T. Illig and P. Franks and Gemma Buck and J. Trakalo and D. Buck and I. Prokopenko and R. Mägi and L. Lind and Y. Farjoun and K. Owen and A. Gloyn and K. Strauch and T. Tuomi and J. Kooner and Jong-Young Lee and T. Park and P. Donnelly and A. Morris and A. Hattersley and D. Bowden and F. Collins and G. Atzmon and J. Chambers and T. Spector and M. Laakso and T. Strom and G. Bell and J. Blangero and R. Duggirala and E. Tai and G. McVean and C. Hanis and James G. Wilson and Mark Seielstad and T. Frayling and J. Meigs and N. Cox and R. Sladek and E. Lander and S. Gabriel and N. Burtt and K. Mohlke and T. Meitinger and L. Groop and G. Abecasis and J. Florez and L. Scott and A. Morris and H. Kang and M. Boehnke and D. Altshuler and M. McCarthy}, title = {The genetic architecture of type 2 diabetes}, year = {2016}, journal = {Semantic Scholar}, doi = {10.1038/nature18642}, url = {https://www.semanticscholar.org/paper/abce70fbc53c990bdf0c24931a412946c5c6d6f6}, }

Akses Cepat

Lihat di Sumber doi.org/10.1038/nature18642

Informasi Jurnal

Tahun Terbit: 2016
Bahasa: en
Total Sitasi: 1047×
Sumber Database: Semantic Scholar
DOI: 10.1038/nature18642
Akses: Open Access ✓