FTOgene variation and measures of body mass in an African population (2009)
Hennig, Branwen J, Fulford, Anthony J, Sirugo, Giorgio, Rayco-Solon, Pura, Hattersley, Andrew T, Frayling, Timothy M, ...
Abstract Background Variation in the fat mass and obesity associated ( FTO ) gene has been reproducibly associated with body mass index (BMI) and obesity in populations of White European origin. Data...
Underlying Genetic Models of Inheritance in Established Type 2 Diabetes Associations (2009)
Salanti, Georgia, Southam, Lorraine, Altshuler, David, Ardlie, Kristin, Barroso, Inês, Boehnke, Michael, ...
For most associations of common single nucleotide polymorphisms (SNPs) with common diseases, the genetic model of inheritance is unknown. The authors extended and applied a Bayesian meta-analysis...
Freathy, Rachel M., Ring, Susan M., Shields, Beverley, Galobardes, Bruna, Knight, Beatrice, Weedon, Michael N., ...
Maternal smoking during pregnancy is associated with low birth weight and adverse pregnancy outcomes. Women are more likely to quit smoking during pregnancy than at any other time in their lives, but...
Keating, Brendan J, Tischfield, Sam, Murray, Sarah S, Bhangale, Tushar, Price, Thomas S, Glessner, Joseph T, ...
A wealth of genetic associations for cardiovascular and metabolic phenotypes in humans has been accumulating over the last decade, in particular a large number of loci derived from recent genome wide...
Mackay, Deborah J.G., Callaway, Jonathan L.A., Marks, Sophie M., White, Helen E., Acerini, Carlo L., Boonen, Susanne E., ...
We have previously described individuals presenting with transient neonatal diabetes and showing a variable pattern of DNA hypomethylation at imprinted loci throughout the genome. We now report...
Correspondence and reprint request: (2008)
Maria Gueorguiev, Steven Wiltshire, Edwin A. Garcia, Charles Mein, Brigitte Kristen, Rebecca Allotey, ...
J Clin Endocrin Metab. First published ahead of print March 27, 2007 as doi:10.1210/jc.2006-2657
Debbie A. Lawlor, Nicholas J. Timpson, Roger M. Harbord, Sam Leary, Andy Ness, Mark I. McCarthy, ...
BackgroundThe developmental overnutrition hypothesis suggests that greater maternal obesity during pregnancy results in increased offspring adiposity in later life. If true, this would result in the...
Hepatocyte nuclear factor-1{beta} gene deletions--a common cause of renal disease (2008)
Edghill, Emma L., Oram, Richard A., Owens, Martina, Stals, Karen L., Harries, Lorna W., Hattersley, Andrew T., ...
Background. Hepatocyte nuclear factor-1β (HNF-1β) is a critical transcription factor in pancreatic and renal development. Our previous report identified HNF-1β mutations in 23/160 patients with...
Newport, Melanie, Sirugo, Giorgio, Lyons, Emily, Vannberg, Fredrik, Hill, Adrian V.S., Bradbury, Linda A., ...
We have genotyped 14,436 nonsynonymous SNPs (nsSNPs) and 897 major histocompatibility complex (MHC) tag SNPs from 1,000 independent cases of ankylosing spondylitis ( AS), autoimmune thyroid disease...
Cardon, Lon R, Craddock, Nick, Deloukas, Panos, Duncanson, Audrey, Kwiatkowski, Dominic P, ...
There is increasing evidence that genome-wide association ( GWA) studies represent a powerful approach to the identification of genes involved in common human diseases. We describe a joint GWA study...
Meirhaeghe, Aline, Sandhu, Manjinder S., McCarthy, Mark I., De Groote, Pascal, Cottel, Dominique, Arveiler, Dominique, ...
Brain natriuretic peptide (BNP/NPPB) is a member of the natriuretic family involved in the regulation of blood pressure and blood volume as well as lipolysis control in human fat cells. Thus BNP may...
Flanagan, Sarah E., Patch, Ann-Marie, Mackay, Deborah J.G., Edghill, Emma L., Gloyn, Anna L., Robinson, David, ...
Transient neonatal diabetes mellitus (TNDM) is diagnosed in the first 6 months of life, with remission in infancy or early childhood. For approximately 50% of patients, their diabetes will relapse in...
Ewan R. Pearson, Sylvia F. Boj, Anna M. Steele, Timothy Barrett, Karen Stals, Julian P. Shield, ...
BackgroundMacrosomia is associated with considerable neonatal and maternal morbidity. Factors that predict macrosomia are poorly understood. The increased rate of macrosomia in the offspring of...
Newport, Melanie, Sirugo, Giorgio, Lyons, Emily, Vannberg, Fredrik, Hill, Adrian V. S., Bradbury, Linda A., ...
We have genotyped 14,436 nonsynonymous SNPs (nsSNPs) and 897 major histocompatibility complex (MHC) tag SNPs from 1,000 independent cases of ankylosing spondylitis ( AS), autoimmune thyroid disease...
Newport, Melanie, Sirugo, Giorgio, Lyons, Emily, Vannberg, Fredrik, Hill, Adrian V. S., Bradbury, Linda A., ...
We have genotyped 14,436 nonsynonymous SNPs (nsSNPs) and 897 major histocompatibility complex (MHC) tag SNPs from 1,000 independent cases of ankylosing spondylitis ( AS), autoimmune thyroid disease...
Freathy, Rachel M, Mitchell, Simon MS, Knight, Beatrice, Shields, Beverley, Weedon, Michael N, Hattersley, Andrew T, ...
Abstract Background Reduced growth during infancy is associated with adult insulin resistance. In a UK Caucasian cohort, the CSH1.01 microsatellite polymorphism in the growth hormone-chorionic...
Chandak, Giriraj R, Ward, Kirsten J, Yajnik, Chittaranjan S, Pandit, Anand N, Bavdekar, Ashish, Joglekar, Charu V, ...
Abstract Background The APOA5 gene variants, -1131T>C and S19W, are associated with altered triglyceride concentrations in studies of subjects of Caucasian and East Asian descent. There are few...
Chandak, Giriraj R., Ward, Kirsten J., Yajnik, Chittaranjan S., Pandit, Anand N., Bavdekar, Ashish, Joglekar, Charu V., ...
BACKGROUND: The APOA5 gene variants, -1131T>C and S19W, are associated with altered triglyceride concentrations in studies of subjects of Caucasian and East Asian descent. There are few studies of...
Michael N. Weedon, Mark I. McCarthy, Graham Hitman, Mark Walker, Christopher J. Groves, Eleftheria Zeggini, ...
BackgroundA limited number of studies have assessed the risk of common diseases when combining information from several predisposing polymorphisms. In most cases, individual polymorphisms only...
Shields, Beverley M, Knight, Bridget A, Powell, Roy J, Hattersley, Andrew T, Wright, David E
Abstract Background Birth weight is a composite of skeletal size and soft tissue. These components are likely to have different growth patterns. The aim of this paper is to investigate the...
Pearson, Ewan R., Flechtner, Isabelle, Njølstad, Pal R., Malecki, Maciej T., Flanagan, Sarah E., Larkin, Brian, ...
BACKGROUND: Heterozygous activating mutations in KCNJ11, encoding the Kir6.2 subunit of the ATP-sensitive potassium (K(sub ATP)) channel, cause 30 to 58 percent of cases of diabetes diagnosed in...
Gloyn, Anna L., Mackay, Deborah J.G., Weedon, Michael N., McCarthy, Mark I., Walker, Mark, Hitman, Graham, ...
Recent evidence supports the strong overlap between genes implicated in monogenic diabetes and susceptibility to type 2 diabetes. Transient neonatal diabetes mellitus (TNDM) is a rare disorder...
Freathy, Rachel M, Weedon, Michael N, Melzer, David, Shields, Beverley, Hitman, Graham A, Walker, Mark, ...
Abstract Background Klotho has an important role in insulin signalling and the development of ageing-like phenotypes in mice. The common functional "KL-VS" variant in the KLOTHO ( KL ) gene is...
Ward, Kirsten J, Ellard, Sian, Yajnik, Chittaranjan S, Frayling, Timothy M, Hattersley, Andrew T, Venigalla, Prathyusha NS, ...
Abstract Apolipoprotein AV (ApoAV) gene variant, -1131T>C, is associated with increased triglyceride concentrations in all ethnic groups studied. An MseI based RFLP analysis is the most commonly used...
Gloyn, Anna L., Mackay, Deborah J., Weedon, Michael N., McCarthy, Mark I., Walker, Mark, Hitman, Graham, ...
Recent evidence supports the strong overlap between genes implicated in monogenic diabetes and susceptibility to type 2 diabetes. Transient neonatal diabetes mellitus (TNDM) is a rare disorder...
Harries, Lorna W., Ellard, Sian, Stride, Amanda, Morgan, Noel G., Hattersley, Andrew T.
The generation of multiple transcripts by mRNA processing has the potential to moderate differences in gene expression both between tissues and at different stages of development. Where gene function...
Proks, Peter, Arnold, Amanda L., Bruining, Jan, Girard, Christophe, Flanagan, Sarah E., Larkin, Brian, ...
Neonatal diabetes is a genetically heterogeneous disorder with nine different genetic aetiologies reported to date. Heterozygous activating mutations in the KCNJ11 gene encoding Kir6.2, the...
Harries, Lorna. W., Ellard, Sian, Stride, Amanda, Morgan, Noel G., Hattersley, Andrew T.
The generation of multiple transcripts by mRNA processing has the potential to moderate differences in gene expression both between tissues and at different stages of development. Where gene function...
Relapsing diabetes can result from moderately activating mutations in KCNJ11 (2005)
Gloyn, Anna L., Reimann, Frank, Girard, Christophe, Edghill, Emma L., Proks, Peter, Pearson, Ewan R., ...
Neonatal diabetes can either remit and hence be transient or else may be permanent. These two phenotypes were considered to be genetically distinct. Abnormalities of 6q24 are the commonest cause of...
C-reactive protein and its role in metabolic syndrome: mendelian randomisation study (2005)
Timpson, Nicholas J., Lawlor, Debbie A., Harbord, Roger M., Gaunt, Tom R., Day, Proflan N.M., Palmer, Lyle J., ...
BACKGROUND: Circulating C-reactive protein (CRP) is associated with the metabolic syndrome and might be causally linked to it. Our aim was to generate estimates of the association between plasma CRP...
Relapsing diabetes can result from moderately activating mutations in KCNJ11 (2005)
Gloyn, Anna L., Reimann, Frank, Girard, Christophe, Edghill, Emma L., Proks, Peter, Pearson, Ewan R., ...
Neonatal diabetes can either remit and hence be transient or else may be permanent. These two phenotypes were considered to be genetically distinct. Abnormalities of 6q24 are the commonest cause of...
Relapsing diabetes can result from moderately activating mutations in KCNJ11 (2005)
Gloyn, Anna L., Reimann, Frank, Girard, Christophe, Edghill, Emma L., Proks, Peter, Pearson, Ewan R., ...
Neonatal diabetes can either remit and hence be transient or else may be permanent. These two phenotypes were considered to be genetically distinct. Abnormalities of 6q24 are the commonest cause of...
Gloyn, Anna L., Pearson, Ewan R., Antcliff, Jennifer F., Proks, Peter, Bruining, Jan, Slingerland, Annabelle S., ...
Background Patients with permanent neonatal diabetes usually present within the first three months of life and require insulin treatment. In most, the cause is unknown. Because ATP-sensitive...
Gloyn, Anna L., Cummings, Elizabeth A., Edghill, Emma L., Harries, Lorna W., Scott, Rachel, Costa, Teresa, ...
Activating mutations in the KCNJ11 gene encoding for the Kir6.2 subunit of the ß-cell ATP-sensitive potassium channel have recently been shown to be a common cause of permanent neonatal diabetes. In...
Gloyn, Anna L., Cummings, Elizabeth A., Edghill, Emma L., Harries, Lorna W., Scott, Rachel, Costa, Teresa, ...
Activating mutations in the KCNJ11 gene encoding for the Kir6.2 subunit of the beta-cell ATP-sensitive potassium channel have recently been shown to be a common cause of permanent neonatal diabetes....
Genetic variants in Apolipoprotein AValter triglyceride concentrations in pregnancy (2003)
Ward, Kirsten J, Shields, Beverley, Knight, Beatrice, Salzmann, Maurice B, Hattersley, Andrew T, Frayling, Timothy M
Abstract Background Triglyceride concentrations are raised in pregnancy and are considered a key fetal fuel. Several gene variants are known to alter triglyceride concentrations, including those in...
Frayling, Timothy M., Lindgren, Cecilia M., Chevre, Jean Claude, Menzel, Stephan, Wishart, Marie, Benmezroua, Yamina, ...
Abstract is not available
Frayling, Timothy M, Hattersley, Andrew T
We suggest that altered fetal growth and type 2 diabetes may be two phenotypes of the same genotype – in other words the ‘thrifty phenotype’ is the result of a ‘thrifty genotype’....
Adult height and proteinuria in type 2 diabetes (2001)
Fava, Stephen, Azzopardi, Joseph, Watkins, Peter J., Hattersley, Andrew T.
Background. Short stature has been shown to be associated with proteinuria in type 1 diabetes, but no data exist with respect to type 2 diabetes. The objective of the study was to investigate the...
Thomas, Heike, Jaschkowitz, Karin, Bulman, Mike, Frayling, Timothy M., Mitchell, Simon M.S., Roosen, Simone, ...
Maturity-onset diabetes of the young (MODY) is a monogenic, autosomal dominant subtype of early-onset diabetes mellitus due to defective insulin secretion by the pancreatic &bgr;-cell in humans. Five...
Kidney disease in hypomelanosis of Ito (2001)
Coward, Richard J. M., Risdon, R. Anthony, Bingham, Coralie, Hattersley, Andrew T., Woolf, Adrian S.
Lausen, Jörn, Thomas, Heike, Lemm, Ira, Bulman, Michael, Borgschulze, Michael, Lingott, Anja, ...
The hepatocyte nuclear factor (HNF)4α, a member of the nuclear receptor superfamily, regulates genes that play a critical role in embryogenesis and metabolism. Recent studies have shown that...
Wild, Wiltrud, Pogge Von Strandmann, Elke, Nastos, Aristotelis, Senkel, Sabine, Lingott-Frieg, Anja, Bulman, Michael, ...
The transcription factor hepatocyte nuclear factor 1β (HNF1β) is a tissue-specific regulator that also plays an essential role in early development of vertebrates. In humans, four heterozygous...
Lausen, Jörn, Thomas, Heike, Lemm, Ira, Bulman, Michael, Borgschulze, Michael, Lingott, Anja, ...
The hepatocyte nuclear factor (HNF)4α, a member of the nuclear receptor superfamily, regulates genes that play a critical role in embryogenesis and metabolism. Recent studies have shown that...
Genetic variants in Apolipoprotein AV alter triglyceride concentrations in pregnancy
Ward, Kirsten J, Shields, Beverley, Knight, Beatrice, Salzmann, Maurice B, Hattersley, Andrew T, Frayling, Timothy M
Missense mutations in the insulin promoter factor-1 gene predispose to type 2 diabetes
Macfarlane, Wendy M., Frayling, Timothy M., Ellard, Sian, Evans, Julie C., Allen, Lisa I.S., Bulman, Michael P., ...
The transcription factor insulin promoter factor-1 (IPF-1) plays a central role in both the development of the pancreas and the regulation of insulin gene expression in the mature pancreatic β cell....
Unlocking the secrets of the pancreatic β cell: man and mouse provide the key
Failure of the pancreas to secrete sufficient insulin results in type 2 diabetes, but the pathogenesis of pancreatic β cell dysfunction is still poorly understood. New insights into β cell failure...
Proks, Peter, Antcliff, Jennifer F., Lippiat, Jon, Gloyn, Anna L., Hattersley, Andrew T., Ashcroft, Frances M.
Inwardly rectifying potassium channels (Kir channels) control cell membrane K+ fluxes and electrical signaling in diverse cell types. Heterozygous mutations in the human Kir6.2 gene (KCNJ11), the...
Bingham, Coralie, Bulman, Michael P., Ellard, Sian, Allen, Lisa I. S., Lipkin, Graham W., Hoff, William G. Van't, ...
Familial glomerulocystic kidney disease (GCKD) is a dominantly inherited condition characterized by glomerular cysts and variable renal size and function; the molecular genetic etiology is unknown....
Evans, Julie C., Frayling, Timothy M., Cassell, Paul G., Saker, Philip J., Hitman, Graham A., Walker, Mark, ...
Variation in CAPN10, the gene encoding the ubiquitously expressed cysteine protease calpain-10, has been associated with type 2 diabetes in Mexican Americans and in two northern-European populations,...
Wiltshire, Steven, Hattersley, Andrew T., Hitman, Graham A., Walker, Mark, Levy, Jonathan C., Sampson, Michael, ...
Improved molecular understanding of the pathogenesis of type 2 diabetes is essential if current therapeutic and preventative options are to be extended. To identify diabetes-susceptibility genes, we...
Understanding cystic-fibrosis-related diabetes: best thought of as insulin deficiency?
Dobson, Lee, Sheldon, Christopher D, Hattersley, Andrew T
The limited available evidence supports the use of insulin treatment in CFRD. This fits with the dominant problem in CFRD being insulin deficiency and progressive beta cell dysfunction, making...
A gating mutation at the internal mouth of the Kir6.2 pore is associated with DEND syndrome
Proks, Peter, Girard, Christophe, Haider, Shozeb, Gloyn, Anna L, Hattersley, Andrew T, Sansom, Mark S P, ...
Inwardly rectifying potassium (Kir) channels control cell membrane K+ fluxes and electrical signalling in diverse cell types. Heterozygous mutations in the human Kir6.2 gene (KCNJ11), the...
Ward, Kirsten J, Ellard, Sian, Yajnik, Chittaranjan S, Frayling, Timothy M, Hattersley, Andrew T, Venigalla, Prathyusha NS, ...
Apolipoprotein AV (ApoAV) gene variant, -1131T>C, is associated with increased triglyceride concentrations in all ethnic groups studied. An MseI based RFLP analysis is the most commonly used method...
Freathy, Rachel M, Weedon, Michael N, Melzer, David, Shields, Beverley, Hitman, Graham A, Walker, Mark, ...
Chandak, Giriraj R, Ward, Kirsten J, Yajnik, Chittaranjan S, Pandit, Anand N, Bavdekar, Ashish, Joglekar, Charu V, ...
Combining Information from Common Type 2 Diabetes Risk Polymorphisms Improves Disease Prediction
Weedon, Michael N, McCarthy, Mark I, Hitman, Graham, Walker, Mark, Groves, Christopher J, Zeggini, Eleftheria, ...
Combining information from several known common risk polymorphisms allows the identification of subgroups of the population with markedly differing risks of developing type 2 diabetes.
Freathy, Rachel M, Mitchell, Simon MS, Knight, Beatrice, Shields, Beverley, Weedon, Michael N, Hattersley, Andrew T, ...
Wild, Wiltrud, Pogge Von Strandmann, Elke, Nastos, Aristotelis, Senkel, Sabine, Lingott-Frieg, Anja, Bulman, Michael, ...
The transcription factor hepatocyte nuclear factor 1β (HNF1β) is a tissue-specific regulator that also plays an essential role in early development of vertebrates. In humans, four heterozygous...
Lausen, Jörn, Thomas, Heike, Lemm, Ira, Bulman, Michael, Borgschulze, Michael, Lingott, Anja, ...
The hepatocyte nuclear factor (HNF)4α, a member of the nuclear receptor superfamily, regulates genes that play a critical role in embryogenesis and metabolism. Recent studies have shown that...
Genetic variants in Apolipoprotein AV alter triglyceride concentrations in pregnancy
Ward, Kirsten J, Shields, Beverley, Knight, Beatrice, Salzmann, Maurice B, Hattersley, Andrew T, Frayling, Timothy M
Wiltshire, Steven, Frayling, Timothy M., Hattersley, Andrew T., Hitman, Graham A., Walker, Mark, Levy, Jonathan C., ...
We have analyzed data from 573 pedigrees from the United Kingdom for evidence for linkage to loci influencing adult stature. Our data set comprised 1,214 diabetic and 163 nondiabetic siblings for...
Missense mutations in the insulin promoter factor-1 gene predispose to type 2 diabetes
Macfarlane, Wendy M., Frayling, Timothy M., Ellard, Sian, Evans, Julie C., Allen, Lisa I.S., Bulman, Michael P., ...
The transcription factor insulin promoter factor-1 (IPF-1) plays a central role in both the development of the pancreas and the regulation of insulin gene expression in the mature pancreatic β cell....
Unlocking the secrets of the pancreatic β cell: man and mouse provide the key
Failure of the pancreas to secrete sufficient insulin results in type 2 diabetes, but the pathogenesis of pancreatic β cell dysfunction is still poorly understood. New insights into β cell failure...
Proks, Peter, Antcliff, Jennifer F., Lippiat, Jon, Gloyn, Anna L., Hattersley, Andrew T., Ashcroft, Frances M.
Inwardly rectifying potassium channels (Kir channels) control cell membrane K+ fluxes and electrical signaling in diverse cell types. Heterozygous mutations in the human Kir6.2 gene (KCNJ11), the...
Weedon, Michael N., Schwarz, Peter E. H., Horikawa, Yukio, Iwasaki, Naoko, Illig, Thomas, Holle, Rolf, ...
Bingham, Coralie, Bulman, Michael P., Ellard, Sian, Allen, Lisa I. S., Lipkin, Graham W., Hoff, William G. Van't, ...
Familial glomerulocystic kidney disease (GCKD) is a dominantly inherited condition characterized by glomerular cysts and variable renal size and function; the molecular genetic etiology is unknown....
Evans, Julie C., Frayling, Timothy M., Cassell, Paul G., Saker, Philip J., Hitman, Graham A., Walker, Mark, ...
Variation in CAPN10, the gene encoding the ubiquitously expressed cysteine protease calpain-10, has been associated with type 2 diabetes in Mexican Americans and in two northern-European populations,...
Wiltshire, Steven, Hattersley, Andrew T., Hitman, Graham A., Walker, Mark, Levy, Jonathan C., Sampson, Michael, ...
Improved molecular understanding of the pathogenesis of type 2 diabetes is essential if current therapeutic and preventative options are to be extended. To identify diabetes-susceptibility genes, we...
A gating mutation at the internal mouth of the Kir6.2 pore is associated with DEND syndrome
Proks, Peter, Girard, Christophe, Haider, Shozeb, Gloyn, Anna L, Hattersley, Andrew T, Sansom, Mark S P, ...
Inwardly rectifying potassium (Kir) channels control cell membrane K+ fluxes and electrical signalling in diverse cell types. Heterozygous mutations in the human Kir6.2 gene (KCNJ11), the...
Understanding cystic-fibrosis-related diabetes: best thought of as insulin deficiency?
Dobson, Lee, Sheldon, Christopher D, Hattersley, Andrew T
The limited available evidence supports the use of insulin treatment in CFRD. This fits with the dominant problem in CFRD being insulin deficiency and progressive beta cell dysfunction, making...
Ward, Kirsten J, Ellard, Sian, Yajnik, Chittaranjan S, Frayling, Timothy M, Hattersley, Andrew T, Venigalla, Prathyusha NS, ...
Apolipoprotein AV (ApoAV) gene variant, -1131T>C, is associated with increased triglyceride concentrations in all ethnic groups studied. An MseI based RFLP analysis is the most commonly used method...
Freathy, Rachel M, Weedon, Michael N, Melzer, David, Shields, Beverley, Hitman, Graham A, Walker, Mark, ...
Combining Information from Common Type 2 Diabetes Risk Polymorphisms Improves Disease Prediction
Weedon, Michael N, McCarthy, Mark I, Hitman, Graham, Walker, Mark, Groves, Christopher J, Zeggini, Eleftheria, ...
Combining information from several known common risk polymorphisms allows the identification of subgroups of the population with markedly differing risks of developing type 2 diabetes.
Chandak, Giriraj R, Ward, Kirsten J, Yajnik, Chittaranjan S, Pandit, Anand N, Bavdekar, Ashish, Joglekar, Charu V, ...
Freathy, Rachel M, Mitchell, Simon MS, Knight, Beatrice, Shields, Beverley, Weedon, Michael N, Hattersley, Andrew T, ...
Pearson, Ewan R, Boj, Sylvia F, Steele, Anna M, Barrett, Timothy, Stals, Karen, Shield, Julian P, ...
HNF4A mutations were found to be associated with a considerable increase in birthweight and macrosomia, and were a cause of neonatal hypoglycaemia.
Prime suspect: the TCF7L2 gene and type 2 diabetes risk
Transcription factor-7–like 2 (TCF7L2) is the most important type 2 diabetes susceptibility gene identified to date, with common intronic variants strongly associated with diabetes in all major...
Freathy, Rachel M., Lonnen, Kathryn F., Steele, Anna M., Minton, Jayne A. L., Frayling, Timothy M., Hattersley, Andrew T., ...
The insertion/deletion (I/D) polymorphism of the angiotensin-converting enzyme gene (ACE) is associated with altered serum ACE activity. Raised ACE levels and the ACE DD genotype are associated with...
Insulin gene mutations as a cause of permanent neonatal diabetes
Støy, Julie, Edghill, Emma L., Flanagan, Sarah E., Ye, Honggang, Paz, Veronica P., Pluzhnikov, Anna, ...
We report 10 heterozygous mutations in the human insulin gene in 16 probands with neonatal diabetes. A combination of linkage and a candidate gene approach in a family with four diabetic members led...
Lawlor, Debbie A, Timpson, Nicholas J, Harbord, Roger M, Leary, Sam, Ness, Andy, McCarthy, Mark I, ...
Using parental-offspring associations and theFTO gene as an instrumental variable for maternal adiposity, Debbie Lawlor and colleagues found that greater maternal BMI during offspring development...
De Wet, Heidi, Rees, Mathew G., Shimomura, Kenju, Aittoniemi, Jussi, Patch, Ann-Marie, Flanagan, Sarah E., ...
Gain-of-function mutations in the genes encoding the ATP-sensitive potassium (KATP) channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) are a common cause of neonatal diabetes mellitus. Here we...
Keating, Brendan J., Tischfield, Sam, Murray, Sarah S., Bhangale, Tushar, Price, Thomas S., Glessner, Joseph T., ...
A wealth of genetic associations for cardiovascular and metabolic phenotypes in humans has been accumulating over the last decade, in particular a large number of loci derived from recent genome wide...
Dietary Energy Density Affects Fat Mass in Early Adolescence and Is Not Modified by FTO Variants
Johnson, Laura, Emmett, Pauline M., Rogers, Imogen S., Ness, Andy R., Hattersley, Andrew T., ...
FTO gene variation and measures of body mass in an African population
Hennig, Branwen J, Fulford, Anthony J, Sirugo, Giorgio, Rayco-Solon, Pura, Hattersley, Andrew T, Frayling, Timothy M, ...
Lindgren, Cecilia M., Heid, Iris M., Randall, Joshua C., Lamina, Claudia, Steinthorsdottir, Valgerdur, Qi, Lu, ...
To identify genetic loci influencing central obesity and fat distribution, we performed a meta-analysis of 16 genome-wide association studies (GWAS, N = 38,580) informative for adult waist...
Harries, Lorna W., Sloman, Melissa J., Sellers, Elizabeth A.C., Hattersley, Andrew T., Ellard, Sian
OBJECTIVE—The G319S HNF1A variant is associated with an increased risk of type 2 diabetes in the Canadian Oji-Cree population. We hypothesized that the variant site at the 3′ end of exon 4 might...
De Wet, Heidi, Proks, Peter, Lafond, Mathilde, Aittoniemi, Jussi, Sansom, Mark S P, Flanagan, Sarah E, ...
Activating mutations in the pore-forming Kir6.2 (KCNJ11) and regulatory sulphonylurea receptor SUR1 (ABCC8) subunits of the KATP channel are a common cause of transient neonatal diabetes mellitus...
Freathy, Rachel M., Ring, Susan M., Shields, Beverley, Galobardes, Bruna, Knight, Beatrice, Weedon, Michael N., ...
Maternal smoking during pregnancy is associated with low birth weight and adverse pregnancy outcomes. Women are more likely to quit smoking during pregnancy than at any other time in their lives, but...
Panicker, Vijay, Cluett, Christie, Shields, Beverley, Murray, Anna, Parnell, Kirstie S., Perry, John R. B., ...
Introduction: Genetic factors influence circulating thyroid hormone levels, but the common gene variants involved have not been conclusively identified. The genes encoding the iodothyronine...
Jafar-Mohammadi, Bahram, Groves, Christopher J., Owen, Katharine R., Frayling, Timothy M., Hattersley, Andrew T., McCarthy, Mark I., ...
Lindgren, Cecilia M., Heid, Iris M., Randall, Joshua C., Lamina, Claudia, Steinthorsdottir, Valgerdur, Qi, Lu, ...
Staník, Juraj, Lethby, Mark, Flanagan, Sarah E., Gašperíková, Daniela, Milošovičová, Beata, Lever, Margaret, ...
OBJECTIVE—Neonatal diabetes is a heterogeneous group of disorders with diabetes manifestation in the first 6 months of life. The most common etiology in permanent neonatal diabetes is mutations of...
Lango, Hana, Palmer, Colin N.A., Morris, Andrew D., Zeggini, Eleftheria, Hattersley, Andrew T., McCarthy, Mark I., ...
OBJECTIVES—Genome-wide association studies have dramatically increased the number of common genetic variants that are robustly associated with type 2 diabetes. A possible clinical use of this...
Barroso, Inês, Luan, Jian’an, Wheeler, Eleanor, Whittaker, Pamela, Wasson, Jon, Zeggini, Eleftheria, ...
OBJECTIVE—Single nucleotide polymorphisms (SNPs) in the P2 promoter region of HNF4A were originally shown to be associated with predisposition for type 2 diabetes in Finnish, Ashkenazi, and, more...
Rubio-Cabezas, Oscar, Patch, Ann-Marie, Minton, Jayne A. L., Flanagan, Sarah E., Edghill, Emma L., Hussain, Khalid, ...
Context and Objective: Mutations in EIF2AK3 cause Wolcott-Rallison syndrome (WRS), a rare recessive disorder characterized by early-onset diabetes, skeletal abnormalities, and liver dysfunction....