Exome sequencing-driven discovery of coding polymorphisms associated with common metabolic phenotypes

Anders Albrechtsen; Niels Grarup; Y Li; T Sparsø; G Tian; H Cao; T Jiang; S Y Kim; Thorfinn Sand Korneliussen; Q Li; C Nie; Rui Wu; Line Skotte; A P Morris; C Ladenvall; S Cauchi; A Stančáková; G Andersen; A Astrup; Karina Banasik; A J Bennett; Lars Bolund; G Charpentier; Y Chen; J M Dekker; A S F Doney; M Dorkhan; T Forsen; T M Frayling; C J Groves; Y Gui; G Hallmans; A T Hattersley; K He; G A Hitman; J Holmkvist; Shaojun Huang; Hao Jiang; X Jin; J M Justesen; K Kristiansen; J Kuusisto; Marianne Lajer; O Lantieri; W Li; Hong Liang; Q Liao; Lise Tarnow; A Linneberg; T Jørgensen; D.E.S.I.R. Study Group

doi:10.1007/s00125-012-2756-1

Exome sequencing-driven discovery of coding polymorphisms associated with common metabolic phenotypes

Anders Albrechtsen
, Niels Grarup
, Y Li
, T Sparsø
, G Tian
, H Cao
, T Jiang
, S Y Kim
, Thorfinn Sand Korneliussen
, Q Li
, C Nie
, Rui Wu
, Line Skotte
, A P Morris
, C Ladenvall
, S Cauchi
, A Stančáková
, G Andersen
, A Astrup
, Karina Banasik

A J Bennett, Lars Bolund, G Charpentier, Y Chen, J M Dekker, A S F Doney, M Dorkhan, T Forsen, T M Frayling, C J Groves, Y Gui, G Hallmans, A T Hattersley, K He, G A Hitman, J Holmkvist, Shaojun Huang, Hao Jiang, X Jin, J M Justesen, K Kristiansen, J Kuusisto, Marianne Lajer, O Lantieri, W Li, Hong Liang, Q Liao, Lise Tarnow, A Linneberg, T Jørgensen, D.E.S.I.R. Study Group

111 Citationer (Scopus)

Abstract

Human complex metabolic traits are in part regulated by genetic determinants. Here we applied exome sequencing to identify novel associations of coding polymorphisms at minor allele frequencies (MAFs) >1% with common metabolic phenotypes.

Originalsprog	Engelsk
Tidsskrift	Diabetologia
Vol/bind	56
Udgave nummer	2
Sider (fra-til)	298-310
Antal sider	13
ISSN	0012-186X
DOI	https://doi.org/10.1007/s00125-012-2756-1
Status	Udgivet - feb. 2013

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10.1007/s00125-012-2756-1

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Albrechtsen, A., Grarup, N., Li, Y., Sparsø, T., Tian, G., Cao, H., Jiang, T., Kim, S. Y., Korneliussen, T. S., Li, Q., Nie, C., Wu, R., Skotte, L., Morris, A. P., Ladenvall, C., Cauchi, S., Stančáková, A., Andersen, G., Astrup, A., ... D.E.S.I.R. Study Group (2013). Exome sequencing-driven discovery of coding polymorphisms associated with common metabolic phenotypes. Diabetologia, 56(2), 298-310. https://doi.org/10.1007/s00125-012-2756-1

Albrechtsen, A, Grarup, N, Li, Y, Sparsø, T, Tian, G, Cao, H, Jiang, T, Kim, SY, Korneliussen, TS, Li, Q, Nie, C, Wu, R, Skotte, L, Morris, AP, Ladenvall, C, Cauchi, S, Stančáková, A, Andersen, G, Astrup, A, Banasik, K, Bennett, AJ, Bolund, L, Charpentier, G, Chen, Y, Dekker, JM, Doney, ASF, Dorkhan, M, Forsen, T, Frayling, TM, Groves, CJ, Gui, Y, Hallmans, G, Hattersley, AT, He, K, Hitman, GA, Holmkvist, J, Huang, S, Jiang, H, Jin, X, Justesen, JM, Kristiansen, K, Kuusisto, J, Lajer, M, Lantieri, O, Li, W, Liang, H, Liao, Q, Tarnow, L, Linneberg, A , Jørgensen, T & D.E.S.I.R. Study Group 2013, 'Exome sequencing-driven discovery of coding polymorphisms associated with common metabolic phenotypes', Diabetologia, bind 56, nr. 2, s. 298-310. https://doi.org/10.1007/s00125-012-2756-1

@article{5777d16f3a20472f97dc24477fab1b79,

title = "Exome sequencing-driven discovery of coding polymorphisms associated with common metabolic phenotypes",

abstract = "Human complex metabolic traits are in part regulated by genetic determinants. Here we applied exome sequencing to identify novel associations of coding polymorphisms at minor allele frequencies (MAFs) >1\% with common metabolic phenotypes.",

keywords = "Diabetes Mellitus, Type 2, Exome, Gene Frequency, Genotype, High-Throughput Nucleotide Sequencing, Humans, Hypertension, Polymorphism, Genetic, Polymorphism, Single Nucleotide",

author = "Anders Albrechtsen and Niels Grarup and Y Li and T Spars{\o} and G Tian and H Cao and T Jiang and Kim, \{S Y\} and Korneliussen, \{Thorfinn Sand\} and Q Li and C Nie and Rui Wu and Line Skotte and Morris, \{A P\} and C Ladenvall and S Cauchi and A Stan{\v c}{\'a}kov{\'a} and G Andersen and A Astrup and Karina Banasik and Bennett, \{A J\} and Lars Bolund and G Charpentier and Y Chen and Dekker, \{J M\} and Doney, \{A S F\} and M Dorkhan and T Forsen and Frayling, \{T M\} and Groves, \{C J\} and Y Gui and G Hallmans and Hattersley, \{A T\} and K He and Hitman, \{G A\} and J Holmkvist and Shaojun Huang and Hao Jiang and X Jin and Justesen, \{J M\} and K Kristiansen and J Kuusisto and Marianne Lajer and O Lantieri and W Li and Hong Liang and Q Liao and Lise Tarnow and A Linneberg and T J{\o}rgensen and \{D.E.S.I.R. Study Group\}",

year = "2013",

month = feb,

doi = "10.1007/s00125-012-2756-1",

language = "English",

volume = "56",

pages = "298--310",

journal = "Diabetologia",

issn = "0012-186X",

publisher = "Springer Science and Business Media Deutschland GmbH",

number = "2",

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TY - JOUR

T1 - Exome sequencing-driven discovery of coding polymorphisms associated with common metabolic phenotypes

AU - Albrechtsen, Anders

AU - Grarup, Niels

AU - Li, Y

AU - Sparsø, T

AU - Tian, G

AU - Cao, H

AU - Jiang, T

AU - Kim, S Y

AU - Korneliussen, Thorfinn Sand

AU - Li, Q

AU - Nie, C

AU - Wu, Rui

AU - Skotte, Line

AU - Morris, A P

AU - Ladenvall, C

AU - Cauchi, S

AU - Stančáková, A

AU - Andersen, G

AU - Astrup, A

AU - Banasik, Karina

AU - Bennett, A J

AU - Bolund, Lars

AU - Charpentier, G

AU - Chen, Y

AU - Dekker, J M

AU - Doney, A S F

AU - Dorkhan, M

AU - Forsen, T

AU - Frayling, T M

AU - Groves, C J

AU - Gui, Y

AU - Hallmans, G

AU - Hattersley, A T

AU - He, K

AU - Hitman, G A

AU - Holmkvist, J

AU - Huang, Shaojun

AU - Jiang, Hao

AU - Jin, X

AU - Justesen, J M

AU - Kristiansen, K

AU - Kuusisto, J

AU - Lajer, Marianne

AU - Lantieri, O

AU - Li, W

AU - Liang, Hong

AU - Liao, Q

AU - Tarnow, Lise

AU - Linneberg, A

AU - Jørgensen, T

AU - D.E.S.I.R. Study Group

PY - 2013/2

Y1 - 2013/2

N2 - Human complex metabolic traits are in part regulated by genetic determinants. Here we applied exome sequencing to identify novel associations of coding polymorphisms at minor allele frequencies (MAFs) >1% with common metabolic phenotypes.

AB - Human complex metabolic traits are in part regulated by genetic determinants. Here we applied exome sequencing to identify novel associations of coding polymorphisms at minor allele frequencies (MAFs) >1% with common metabolic phenotypes.

KW - Diabetes Mellitus, Type 2

KW - Exome

KW - Gene Frequency

KW - Genotype

KW - High-Throughput Nucleotide Sequencing

KW - Humans

KW - Hypertension

KW - Polymorphism, Genetic

KW - Polymorphism, Single Nucleotide

U2 - 10.1007/s00125-012-2756-1

DO - 10.1007/s00125-012-2756-1

M3 - Journal article

C2 - 23160641

SN - 0012-186X

VL - 56

SP - 298

EP - 310

JO - Diabetologia

JF - Diabetologia

IS - 2

ER -

Exome sequencing-driven discovery of coding polymorphisms associated with common metabolic phenotypes

Abstract

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