A role for coding functional variants in HNF4A in type 2 diabetes susceptibility

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A role for coding functional variants in HNF4A in type 2 diabetes susceptibility. / Jafar-Mohammadi, B; Groves, C J; Gjesing, A P; Herrera, B M; Winckler, W; Stringham, H M; Morris, A P; Lauritzen, Torsten; Doney, A S F; Morris, A D; Weedon, M N; Swift, A J; Kuusisto, J; Laakso, M; Altshuler, D; Hattersley, A T; Collins, F S; Boehnke, M; Hansen, T; Pedersen, O; Palmer, C N A; Frayling, T M; Gloyn, A L; McCarthy, M I; DIAGRAM Consortium.

In: Diabetologia, Vol. 54, No. 1, 01.2011, p. 111-9.

Research output: Contribution to journalJournal articleResearchpeer-review

Harvard

Jafar-Mohammadi, B, Groves, CJ, Gjesing, AP, Herrera, BM, Winckler, W, Stringham, HM, Morris, AP, Lauritzen, T, Doney, ASF, Morris, AD, Weedon, MN, Swift, AJ, Kuusisto, J, Laakso, M, Altshuler, D, Hattersley, AT, Collins, FS, Boehnke, M, Hansen, T, Pedersen, O, Palmer, CNA, Frayling, TM, Gloyn, AL, McCarthy, MI & DIAGRAM Consortium 2011, 'A role for coding functional variants in HNF4A in type 2 diabetes susceptibility', Diabetologia, vol. 54, no. 1, pp. 111-9. https://doi.org/10.1007/s00125-010-1916-4

APA

Jafar-Mohammadi, B., Groves, C. J., Gjesing, A. P., Herrera, B. M., Winckler, W., Stringham, H. M., Morris, A. P., Lauritzen, T., Doney, A. S. F., Morris, A. D., Weedon, M. N., Swift, A. J., Kuusisto, J., Laakso, M., Altshuler, D., Hattersley, A. T., Collins, F. S., Boehnke, M., Hansen, T., ... DIAGRAM Consortium (2011). A role for coding functional variants in HNF4A in type 2 diabetes susceptibility. Diabetologia, 54(1), 111-9. https://doi.org/10.1007/s00125-010-1916-4

Vancouver

Jafar-Mohammadi B, Groves CJ, Gjesing AP, Herrera BM, Winckler W, Stringham HM et al. A role for coding functional variants in HNF4A in type 2 diabetes susceptibility. Diabetologia. 2011 Jan;54(1):111-9. https://doi.org/10.1007/s00125-010-1916-4

Author

Jafar-Mohammadi, B ; Groves, C J ; Gjesing, A P ; Herrera, B M ; Winckler, W ; Stringham, H M ; Morris, A P ; Lauritzen, Torsten ; Doney, A S F ; Morris, A D ; Weedon, M N ; Swift, A J ; Kuusisto, J ; Laakso, M ; Altshuler, D ; Hattersley, A T ; Collins, F S ; Boehnke, M ; Hansen, T ; Pedersen, O ; Palmer, C N A ; Frayling, T M ; Gloyn, A L ; McCarthy, M I ; DIAGRAM Consortium. / A role for coding functional variants in HNF4A in type 2 diabetes susceptibility. In: Diabetologia. 2011 ; Vol. 54, No. 1. pp. 111-9.

Bibtex

@article{817b43254a3f42079d0a7ee844d6bb29,
title = "A role for coding functional variants in HNF4A in type 2 diabetes susceptibility",
abstract = "Rare mutations in the gene HNF4A, encoding the transcription factor hepatocyte nuclear factor 4a (HNF-4A), account for ~5% of cases of MODY and more frequent variants in this gene may be involved in multifactorial forms of diabetes. Two low-frequency, non-synonymous variants in HNF4A (V255M, minor allele frequency [MAF] ~0.1%; T130I, MAF ~3.0%)-known to influence downstream HNF-4A target gene expression-are of interest, but previous type 2 diabetes association reports were inconclusive. We aimed to evaluate the contribution of these variants to type 2 diabetes susceptibility through large-scale association analysis.",
keywords = "Adult, Aged, Diabetes Mellitus, Type 2, Female, Genetic Predisposition to Disease, Genotype, Hepatocyte Nuclear Factor 4, Humans, Male, Middle Aged, Mutation",
author = "B Jafar-Mohammadi and Groves, {C J} and Gjesing, {A P} and Herrera, {B M} and W Winckler and Stringham, {H M} and Morris, {A P} and Torsten Lauritzen and Doney, {A S F} and Morris, {A D} and Weedon, {M N} and Swift, {A J} and J Kuusisto and M Laakso and D Altshuler and Hattersley, {A T} and Collins, {F S} and M Boehnke and T Hansen and O Pedersen and Palmer, {C N A} and Frayling, {T M} and Gloyn, {A L} and McCarthy, {M I} and {DIAGRAM Consortium}",
year = "2011",
month = jan,
doi = "10.1007/s00125-010-1916-4",
language = "English",
volume = "54",
pages = "111--9",
journal = "Diabetologia",
issn = "0012-186X",
publisher = "Springer",
number = "1",

}

RIS

TY - JOUR

T1 - A role for coding functional variants in HNF4A in type 2 diabetes susceptibility

AU - Jafar-Mohammadi, B

AU - Groves, C J

AU - Gjesing, A P

AU - Herrera, B M

AU - Winckler, W

AU - Stringham, H M

AU - Morris, A P

AU - Lauritzen, Torsten

AU - Doney, A S F

AU - Morris, A D

AU - Weedon, M N

AU - Swift, A J

AU - Kuusisto, J

AU - Laakso, M

AU - Altshuler, D

AU - Hattersley, A T

AU - Collins, F S

AU - Boehnke, M

AU - Hansen, T

AU - Pedersen, O

AU - Palmer, C N A

AU - Frayling, T M

AU - Gloyn, A L

AU - McCarthy, M I

AU - DIAGRAM Consortium

PY - 2011/1

Y1 - 2011/1

N2 - Rare mutations in the gene HNF4A, encoding the transcription factor hepatocyte nuclear factor 4a (HNF-4A), account for ~5% of cases of MODY and more frequent variants in this gene may be involved in multifactorial forms of diabetes. Two low-frequency, non-synonymous variants in HNF4A (V255M, minor allele frequency [MAF] ~0.1%; T130I, MAF ~3.0%)-known to influence downstream HNF-4A target gene expression-are of interest, but previous type 2 diabetes association reports were inconclusive. We aimed to evaluate the contribution of these variants to type 2 diabetes susceptibility through large-scale association analysis.

AB - Rare mutations in the gene HNF4A, encoding the transcription factor hepatocyte nuclear factor 4a (HNF-4A), account for ~5% of cases of MODY and more frequent variants in this gene may be involved in multifactorial forms of diabetes. Two low-frequency, non-synonymous variants in HNF4A (V255M, minor allele frequency [MAF] ~0.1%; T130I, MAF ~3.0%)-known to influence downstream HNF-4A target gene expression-are of interest, but previous type 2 diabetes association reports were inconclusive. We aimed to evaluate the contribution of these variants to type 2 diabetes susceptibility through large-scale association analysis.

KW - Adult

KW - Aged

KW - Diabetes Mellitus, Type 2

KW - Female

KW - Genetic Predisposition to Disease

KW - Genotype

KW - Hepatocyte Nuclear Factor 4

KW - Humans

KW - Male

KW - Middle Aged

KW - Mutation

U2 - 10.1007/s00125-010-1916-4

DO - 10.1007/s00125-010-1916-4

M3 - Journal article

C2 - 20878384

VL - 54

SP - 111

EP - 119

JO - Diabetologia

JF - Diabetologia

SN - 0012-186X

IS - 1

ER -

ID: 45583366