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Author (up) Marquez, M.; Huyvaert, M.; Perry, J.R.B.; Pearson, R.D.; Falchi, M.; Morris, A.P.; Vivequin, S.; Lobbens, S.; Yengo, L.; Gaget, S.; Pattou, F.; Poulain-Godefroy, O.; Charpentier, G.; Carlsson, L.M.S.; Jacobson, P.; Sjostrom, L.; Lantieri, O.; Heude, B.; Walley, A.; Balkau, B.; Marre, M.; Froguel, P.; Cauchi, S. url  doi
  Title Low-frequency variants in HMGA1 are not associated with type 2 diabetes risk Type Journal Article
  Year 2012 Publication Diabetes Abbreviated Journal Diabetes  
  Volume 61 Issue 2 Pages 524-530  
  Keywords Diabetes Mellitus, Type 2/etiology/*genetics; Genome-Wide Association Study; Genotype; HMGA1a Protein/*genetics; Humans; Insulin Resistance; Receptor, Insulin/genetics; Risk  
  Abstract It has recently been suggested that the low-frequency c.136-14136-13insC 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.136-14136-13insC 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.  
  Address UMR CNRS 8199, Genomic and Metabolic Disease, Lille, France  
  Corporate Author DIAGRAM Consortium Thesis  
  Publisher Place of Publication Editor  
  Language English Summary Language Original Title  
  Series Editor Series Title Abbreviated Series Title  
  Series Volume Series Issue Edition  
  ISSN 0012-1797 ISBN Medium  
  Area Expedition Conference  
  Notes PMID:22210315; PMC3266400 Approved no  
  Call Number HUNT @ maria.stuifbergen @ Serial 1553  
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