نتایج جستجو برای: slc30a8

تعداد نتایج: 228  

2011
Elisa A. Bellomo Gargi Meur Guy A. Rutter

Zn²⁺ is an important cofactor for insulin biosynthesis and storage in pancreatic β-cells. Correspondingly, polymorphisms in the SLC30A8 gene, encoding the secretory granule Zn²⁺ transporter ZnT8, are associated with type 2 diabetes risk. Using a genetically engineered (FRET)-based sensor (eCALWY-4), we show here that elevated glucose time-dependently increases free cytosolic Zn²⁺ ([Zn²⁺](cyt)) ...

Journal: :Diabetes 2008
Mandy van Hoek Abbas Dehghan Jacqueline C.M. Witteman Cornelia M. van Duijn André G. Uitterlinden Ben A. Oostra Albert Hofman Eric J.G. Sijbrands A. Cecile J.W. Janssens

OBJECTIVE Prediction of type 2 diabetes based on genetic testing might improve identification of high-risk subjects. Genome-wide association (GWA) studies identified multiple new genetic variants that associate with type 2 diabetes. The predictive value of genetic testing for prediction of type 2 diabetes in the general population is unclear. RESEARCH DESIGN AND METHODS We investigated 18 pol...

Journal: :Diabetes 2009
Rachel M. Freathy Amanda J. Bennett Susan M. Ring Beverley Shields Christopher J. Groves Nicholas J. Timpson Michael N. Weedon Eleftheria Zeggini Cecilia M. Lindgren Hana Lango John R.B. Perry Anneli Pouta Aimo Ruokonen Elina Hyppönen Chris Power Paul Elliott David P. Strachan Marjo-Riitta Järvelin George Davey Smith Mark I. McCarthy Timothy M. Frayling Andrew T. Hattersley

OBJECTIVE Low birth weight is associated with an increased risk of type 2 diabetes. The mechanisms underlying this association are unknown and may represent intrauterine programming or two phenotypes of one genotype. The fetal insulin hypothesis proposes that common genetic variants that reduce insulin secretion or action may predispose to type 2 diabetes and also reduce birth weight, since ins...

Journal: :Diabetes 2007
Laura Pascoe Andrea Tura Sheila K Patel Ibrahim M Ibrahim Ele Ferrannini Eleftheria Zeggini Michael N Weedon Andrea Mari Andrew T Hattersley Mark I McCarthy Timothy M Frayling Mark Walker

OBJECTIVE Type 2 diabetes is characterized by impaired pancreatic beta-cell function and decreased insulin sensitivity. Genome-wide association studies have identified common, novel type 2 diabetes susceptibility loci within the FTO, CDKAL1, CDKN2A/CDKN2B, IGF2BP2, HHEX/IDE, and SLC30A8 gene regions. Our objective was to explore the relationships between the diabetes-associated alleles and meas...

Journal: :The New England journal of medicine 2008
Jeff Gulcher Kari Stefansson

BACKGROUND Type 2 diabetes mellitus is thought to develop from an interaction between environmental and genetic factors. We examined whether clinical or genetic factors or both could predict progression to diabetes in two prospective cohorts. METHODS We genotyped 16 single-nucleotide polymorphisms (SNPs) and examined clinical factors in 16,061 Swedish and 2770 Finnish subjects. Type 2 diabete...

2017
Ryan K. Mitchell Marie-Sophie Nguyen-Tu Pauline Chabosseau Rebecca M. Callingham Timothy J. Pullen Rebecca Cheung Isabelle Leclerc David J. Hodson Guy A. Rutter

Heterozygous mutations in the human paired box gene PAX6 lead to impaired glucose tolerance. Although embryonic deletion of the Pax6 gene in mice leads to loss of most pancreatic islet cell types, the functional consequences of Pax6 loss in adults are poorly defined. Here we developed a mouse line in which Pax6 was selectively inactivated in β cells by crossing animals with floxed Pax6 alleles ...

Journal: :Human heredity 2014
Jacob DeMenna Sobha Puppala Geetha Chittoor Jennifer Schneider Joon Young Kim Gabriel Q Shaibi Lawrence J Mandarino Ravindranath Duggirala Dawn K Coletta

BACKGROUND/AIMS The increased occurrence of type 2 diabetes and its clinical correlates is a global public health issue, and there are continued efforts to find its genetic determinant across ethnically diverse populations. The aims of this study were to determine the heritability of diabetes and metabolic syndrome phenotypes in the Arizona Insulin Resistance (AIR) registry and to perform an as...

2010
Leen M. ‘t Hart Annemarie M. Simonis-Bik Giel Nijpels Timon W. van Haeften Silke A. Schäfer Jeanine J. Houwing-Duistermaat Dorret I. Boomsma Marlous J. Groenewoud Erwin Reiling Els C. van Hove Michaela Diamant Mark H.H. Kramer Robert J. Heine J. Antonie Maassen Kerstin Kirchhoff Fausto Machicao Hans-Ulrich Häring P. Eline Slagboom Gonneke Willemsen Elisabeth M. Eekhoff Eco J. de Geus Jacqueline M. Dekker Andreas Fritsche

OBJECTIVE At least 20 type 2 diabetes loci have now been identified, and several of these are associated with altered beta-cell function. In this study, we have investigated the combined effects of eight known beta-cell loci on insulin secretion stimulated by three different secretagogues during hyperglycemic clamps. RESEARCH DESIGN AND METHODS A total of 447 subjects originating from four in...

2010
Martin Heni Caroline Ketterer Claus Thamer Silke A. Herzberg-Schäfer Martina Guthoff Norbert Stefan Fausto Machicao Harald Staiger Andreas Fritsche Hans-Ulrich Häring

OBJECTIVE Several single nucleotide polymorphisms (SNPs) in diabetes risk genes reduce glucose- and/or incretin-induced insulin secretion. Here, we investigated interactions between glycemia and such diabetes risk polymorphisms. RESEARCH DESIGN AND METHODS Insulin secretion was assessed by insulinogenic index and areas under the curve of C-peptide/glucose in 1,576 subjects using an oral gluco...

Journal: :Diabetic Medicine 2007
E. Zeggini

The field of complex disease genetics has witnessed rapid progress over the past few months. The advent of genome-wide association scans (GWAS) has mediated a change in gear and the Type 2 diabetes (T2D) research community has set an unprecedented record with five genome-wide association studies published since February 2007 [1–6], increasing the number of confirmed Type 2 diabetes susceptibili...

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