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Low-frequency variants in HMGA1 are not associated with type 2 diabetes risk.

Marquez, M; Huyvaert, M; Perry, JRB; Pearson, RD; Falchi, M; Morris, AP; Vivequin, S; Lobbens, S; Yengo, L; Gaget, S; et al. Marquez, M; Huyvaert, M; Perry, JRB; Pearson, RD; Falchi, M; Morris, AP; Vivequin, S; Lobbens, S; Yengo, L; Gaget, S; Pattou, F; Poulain-Godefroy, O; Charpentier, G; Carlsson, LMS; Jacobson, P; Sjöström, L; Lantieri, O; Heude, B; Walley, A; Balkau, B; Marre, M; Froguel, P; Cauchi, S; DIAGRAM Consortium (2012) Low-frequency variants in HMGA1 are not associated with type 2 diabetes risk. Diabetes, 61 (2). pp. 524-530. ISSN 1939-327X https://doi.org/10.2337/db11-0728
SGUL Authors: Walley, Andrew John

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Abstract

It has recently been suggested that the low-frequency c.136-14_136-13insC variant in high-mobility group A1 (HMGA1) may strongly contribute to insulin resistance and type 2 diabetes risk. In our study, we attempted to confirm that HMGA1 is a novel type 2 diabetes locus in French Caucasians. The gene was sequenced in 368 type 2 diabetic case subjects with a family history of type 2 diabetes and 372 normoglycemic control subjects without a family history of type 2 diabetes. None of the 41 genetic variations identified were associated with type 2 diabetes. The lack of association between the c.136-14_136-13insC variant and type 2 diabetes was confirmed in an independent French group of 4,538 case subjects and 4,015 control subjects and in a large meta-analysis of 16,605 case subjects and 46,179 control subjects. Finally, this variant had no effects on metabolic traits and was not involved in variations of HMGA1 and insulin receptor (INSR) expressions. The c.136-14_136-13insC variant was not associated with type 2 diabetes in individuals of European descent. Our study emphasizes the need to analyze a large number of subjects to reliably assess the association of low-frequency variants with the disease.

Item Type: Article
Additional Information: © 2012 by the American Diabetes Association. Readers may use this article as long as the work is properly cited, the use is educational and not for profit, and the work is not altered. See http://creativecommons.org/licenses/by-nc-nd/3.0/ for details.
Keywords: Diabetes Mellitus, Type 2, Genome-Wide Association Study, Genotype, HMGA1a Protein, Humans, Insulin Resistance, Receptor, Insulin, Risk, DIAGRAM Consortium, Humans, Diabetes Mellitus, Type 2, Insulin Resistance, Receptor, Insulin, HMGA1a Protein, Risk, Genotype, Genome-Wide Association Study, Endocrinology & Metabolism, 11 Medical And Health Sciences
SGUL Research Institute / Research Centre: Academic Structure > Institute of Medical & Biomedical Education (IMBE)
Academic Structure > Institute of Medical & Biomedical Education (IMBE) > Centre for Biomedical Education (INMEBE)
Journal or Publication Title: Diabetes
ISSN: 1939-327X
Language: eng
Dates:
DateEvent
1 February 2012Published
30 December 2011Published Online
4 October 2011Accepted
Publisher License: Creative Commons: Attribution-Noncommercial-No Derivative Works 3.0
Projects:
Project IDFunderFunder ID
064890Wellcome TrustUNSPECIFIED
081682Wellcome TrustUNSPECIFIED
090532Wellcome TrustUNSPECIFIED
MC_U106179471Medical Research CouncilUNSPECIFIED
PubMed ID: 22210315
Web of Science ID: WOS:000299798100031
Go to PubMed abstract
URI: https://openaccess.sgul.ac.uk/id/eprint/107818
Publisher's version: https://doi.org/10.2337/db11-0728

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