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The -238 and -308 G-->A polymorphisms of the tumor necrosis factor alpha gene promoter are not associated with features of the insulin resistance syndrome or altered birth weight in Danish Caucasians.

https://arctichealth.org/en/permalink/ahliterature47878
Source
J Clin Endocrinol Metab. 2000 Apr;85(4):1731-4
Publication Type
Article
Date
Apr-2000
Author
S K Rasmussen
S A Urhammer
J N Jensen
T. Hansen
K. Borch-Johnsen
O. Pedersen
Author Affiliation
Steno Diabetes Center and Hagedorn Research Institute, Gentofte, Denmark.
Source
J Clin Endocrinol Metab. 2000 Apr;85(4):1731-4
Date
Apr-2000
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Birth Weight - genetics
Body constitution
Body mass index
Denmark
Diabetes Mellitus, Type 2 - genetics
Female
Genotype
Humans
Insulin - blood
Insulin Resistance - genetics
Lipids - blood
Male
Obesity - genetics
Polymorphism, Restriction Fragment Length
Promoter Regions (Genetics)
Research Support, Non-U.S. Gov't
Tumor Necrosis Factor-alpha - genetics
Abstract
Recently, two G-->A polymorphisms at positions -308 and -238, in the promoter of the tumor necrosis factor alpha (TNF-alpha) gene, have been identified. These variants have, in different ethnic groups, been linked to estimates of insulin resistance and obesity. The objective of the present study was to investigate whether these genetic variants of TNF-alpha were associated with features of the insulin resistance syndrome or alterations in birth weight in two Danish study populations comprising 380 unrelated young healthy subjects and 249 glucose-tolerant relatives of type 2 diabetic patients, respectively. All study participants underwent an iv glucose tolerance test with the addition of tolbutamide after 20 min. In addition, a number of biochemical and anthropometric measures were performed on each subject. The subjects were genotyped for the polymorphisms by applying PCR restriction fragment length polymorphism. Neither of the variants was related to altered insulin sensitivity index or other features of the insulin resistance syndrome (body mass index, waist to hip ratio, fat mass, fasting serum lipids or fasting serum insulin or C-peptide). Birth weight and the ponderal index were also not associated with the polymorphisms. In conclusion, although the study was carried out on sufficiently large study samples, the study does not support a major role of the -308 or -238 substitutions of the TNF-alpha gene in the pathogenesis of insulin resistance or altered birth weight among Danish Caucasian subjects.
PubMed ID
10770222 View in PubMed
Less detail

The -250G>A promoter variant in hepatic lipase associates with elevated fasting serum high-density lipoprotein cholesterol modulated by interaction with physical activity in a study of 16,156 Danish subjects.

https://arctichealth.org/en/permalink/ahliterature85800
Source
J Clin Endocrinol Metab. 2008 Jun;93(6):2294-9
Publication Type
Article
Date
Jun-2008
Author
Grarup Niels
Andreasen Camilla H
Andersen Mette K
Albrechtsen Anders
Sandbaek Annelli
Lauritzen Torsten
Borch-Johnsen Knut
Jørgensen Torben
Schmitz Ole
Hansen Torben
Pedersen Oluf
Author Affiliation
Steno Diabetes Center, Niels Steensens Vej 1, Gentofte, Denmark. ngrp@steno.dk
Source
J Clin Endocrinol Metab. 2008 Jun;93(6):2294-9
Date
Jun-2008
Language
English
Publication Type
Article
Keywords
Case-Control Studies
Cholesterol, HDL - blood
Cohort Studies
Denmark
Diabetes Mellitus, Type 2 - genetics
Fasting - blood
Genetic Predisposition to Disease
Genetic Screening
Genotype
Heterozygote
Humans
Insulin Resistance
Linkage Disequilibrium
Lipase - genetics
Motor Activity - genetics - physiology
Polymorphism, Single Nucleotide
Promoter Regions (Genetics)
Abstract
CONTEXT: Hepatic lipase plays a pivotal role in the metabolism of high-density lipoprotein (HDL) and low-density lipoprotein by involvement in reverse cholesterol transport and the formation of atherogenic small dense low-density lipoprotein. OBJECTIVES: The objective was to investigate the impact of variants in LIPC on metabolic traits and type 2 diabetes in a large sample of Danes. Because behavioral factors influence hepatic lipase activity, we furthermore examined possible gene-environment interactions in the population-based Inter99 study. DESIGN: The LIPC -250G>A (rs2070895) variant was genotyped in the Inter99 study (n = 6070), the Anglo-Danish-Dutch Study of Intensive Treatment in People with Screen Detected Diabetes in Primary Care Denmark screening cohort of individuals with risk factors for undiagnosed type 2 diabetes (n = 8662), and in additional type 2 diabetic patients (n = 1,064) and glucose-tolerant control subjects (n = 360). RESULTS: In the Inter99 study, the A allele of rs2070895 associated with a 0.057 mmol/liter [95% confidence interval (CI) 0.039-0.075] increase in fasting serum HDL-cholesterol (HDL-c) (P = 8 x 10(-10)) supported by association in the Anglo-Danish-Dutch Study of Intensive Treatment in People with Screen Detected Diabetes in Primary Care study [0.038 mmol/liter per allele (95% CI 0.024-0.053); P = 2 x 10(-7)). The allelic effect on HDL-c was modulated by interaction with self-reported physical activity (P(interaction) = 0.002) because vigorous physically active homozygous A-allele carriers had a 0.30 mmol/liter (95% CI 0.22-0.37) increase in HDL-c compared with homozygous G-allele carriers. CONCLUSIONS: We validate the association of LIPC promoter variation with fasting serum HDL-c and present data supporting an interaction with physical activity implying an increased effect on HDL-c in vigorous physically active subjects carrying the -250 A allele. This interaction may have potential implications for public health and disease prevention.
PubMed ID
18364377 View in PubMed
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2000 EASD/Sankyo Insulin Resistance Project Award.

https://arctichealth.org/en/permalink/ahliterature47796
Source
Diabetologia. 2000 Oct;43(10):42-3
Publication Type
Article
Date
Oct-2000
Source
Diabetologia. 2000 Oct;43(10):42-3
Date
Oct-2000
Language
English
Publication Type
Article
Keywords
Awards and Prizes
Diabetes Mellitus, Type 2 - genetics
History, 20th Century
Insulin Resistance - genetics
Portraits
Sweden
PubMed ID
11079763 View in PubMed
Less detail

Adiponectin polymorphisms, adiposity and insulin metabolism: HERITAGE family study and Oulu diabetic study.

https://arctichealth.org/en/permalink/ahliterature47016
Source
Ann Med. 2005;37(2):141-50
Publication Type
Article
Date
2005
Author
Olavi Ukkola
Merja Santaniemi
Tuomo Rankinen
Arthur S Leon
James S Skinner
Jack H Wilmore
D C Rao
Richard Bergman
Y Antero Kesäniemi
Claude Bouchard
Author Affiliation
Pennington Biomedical Research Center, Louisiana State University System, Baton Rouge 70808-4124, USA.
Source
Ann Med. 2005;37(2):141-50
Date
2005
Language
English
Publication Type
Article
Keywords
Adipocytes - metabolism
Adiponectin
Adipose Tissue - metabolism
African Continental Ancestry Group - genetics
Case-Control Studies
Diabetes Mellitus, Type 2 - genetics
European Continental Ancestry Group - genetics
Female
Finland
Gene Frequency
Haplotypes
Histidine
Humans
Insulin - metabolism
Intercellular Signaling Peptides and Proteins - genetics
Male
Middle Aged
Polymorphism, Genetic
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.
Risk factors
Tyrosine
Abstract
AIMS/HYPOTHESIS: Adiponectin is an adipocytokine with lowered blood levels in obesity and Type 2 diabetes mellitus. We sought to define the specific effects of different alleles of the gene encoding adiponectin. METHODS: We studied the associations of adiponectin gene sequence variations with body fat distribution and insulin indices in 503 White and 276 Black subjects of the HERITAGE Family Study cohort and subjects from a Finnish population. RESULTS: The His111 allele frequency of the Tyr111 His polymorphism in Finnish Type 2 diabetic subjects (n=254) was higher (5.1%) than in control subjects (n=270) (2.6%; P = 0.033). In the HERITAGE cohort, the His111 allele was associated with a lower insulin sensitivity index (P = 0.018) and a higher acute insulin response to glucose (P = 0.0098) in Whites. Other variants showed associations with adiposity and plasma lipid values only in Blacks. Among Blacks, the IVS2+G62T variant was associated with body fat (P = 0.002) and total cholesterol values (P = 0.005), and the Gly15Gly variant with cholesterol (P = 0.009) and triglyceride (P = 0.05) levels. The haplotype derived from these two polymorphisms was associated with total body fat, while the IVS2+G62T and Tyr111His-haplotype was associated with body fat and disposition index. CONCLUSIONS: The carriers of the His111 allele may have a higher risk of developing Type 2 diabetes mellitus. Racial differences were found between Blacks and Whites in body composition and lipids according to ACDC genotypes. Sequence variants in the adiponectin gene appear to be associated with diabetes and diabetes-related phenotypes.
PubMed ID
16028335 View in PubMed
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Adult-onset diabetes mellitus and neurosensory hearing loss in maternal relatives of MELAS patients in a family with the tRNA(Leu(UUR)) mutation.

https://arctichealth.org/en/permalink/ahliterature48543
Source
Neurology. 1993 May;43(5):1015-20
Publication Type
Article
Date
May-1993
Author
A M Remes
K. Majamaa
R. Herva
I E Hassinen
Author Affiliation
Department of Medical Biochemistry, University of Oulu, Finland.
Source
Neurology. 1993 May;43(5):1015-20
Date
May-1993
Language
English
Publication Type
Article
Keywords
Adult
Base Sequence
DNA, Mitochondrial - genetics - isolation & purification
Diabetes Mellitus, Type 2 - genetics
Female
Hearing Loss, Sensorineural - genetics
Humans
Kidney - metabolism
MELAS Syndrome - genetics
Male
Mitochondria - metabolism
Mitochondria, Heart - metabolism
Mitochondria, Muscle - metabolism
Pedigree
Point Mutation
Polymerase Chain Reaction
RNA, Transfer, Leu - genetics
Research Support, Non-U.S. Gov't
Abstract
We describe a family with three cases of "clinically incomplete mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS) syndrome" in which heteroplasmic tRNA(Leu(UUR)) mutation at nucleotide 3243 of the mitochondrial DNA was present in three generations. The amount of mutant genome varied among tissues: it was 60% in the kidney, 72% in the cardiac muscle, and 91% in the liver of the female proband's affected brother and 63% in the kidney, 71% in the cardiac muscle, and 71% in the liver of the female proband's perinatally deceased son. The tRNA(Leu(UUR)) mutation was also carried by the siblings of the proband's affected mother. None of them had any clinical signs of MELAS syndrome. This syndrome has the new feature of being associated with adult-onset diabetes mellitus, neurosensory hearing loss, and short stature.
PubMed ID
8492919 View in PubMed
Less detail

Analysis of 14 candidate genes for diabetic nephropathy on chromosome 3q in European populations: strongest evidence for association with a variant in the promoter region of the adiponectin gene.

https://arctichealth.org/en/permalink/ahliterature80069
Source
Diabetes. 2006 Nov;55(11):3166-74
Publication Type
Article
Date
Nov-2006
Author
Vionnet Nathalie
Tregouët David
Kazeem Gbenga
Gut Ivo
Groop Per-Henrik
Tarnow Lise
Parving Hans-Henrik
Hadjadj Samy
Forsblom Carol
Farrall Martin
Gauguier Dominique
Cox Roger
Matsuda Fumihiko
Heath Simon
Thévard Alexandre
Rousseau Rachel
Cambien François
Marre Michel
Lathrop Mark
Author Affiliation
INSERM U525, Centre National de Génotypage, 2, Rue Gaston Crémieux, 91006 Evry Cedex, France. vionnet@cng.fr
Source
Diabetes. 2006 Nov;55(11):3166-74
Date
Nov-2006
Language
English
Publication Type
Article
Keywords
Chromosome Mapping
Chromosomes, Human, Pair 3
Coronary Disease - genetics
Diabetes Mellitus, Type 1 - genetics
Diabetes Mellitus, Type 2 - genetics
Diabetic Nephropathies - genetics
Europe
European Continental Ancestry Group
Female
Gene Frequency
Genotype
Humans
Male
Obesity - genetics
Pedigree
Polymorphism, Single Nucleotide
Reference Values
Risk factors
Abstract
Linkage studies have mapped loci for diabetic nephropathy and associated phenotypes on chromosome 3q. We studied 14 plausible candidate genes in the linkage region because of their potential role in vascular complications. In a large-scale study of patients from Denmark, Finland, and France who have type 1 diabetes, 1,057 case and 1,127 control subjects, as well as 532 trios, were investigated for association with diabetic nephropathy. We analyzed 69 haplotype-tagging single nucleotide polymorphisms and nonsynonymous variants that were identified by sequencing. Polymorphisms in three genes, glucose transporter 2 (SLC2A2), kininogen (KNG1), and adiponectin (ADIPOQ), showed nominal association with diabetic nephropathy in single-point analysis. The T-allele of SLC2A2_16459CT was associated with a decreased risk of diabetic nephropathy (odds ratio 0.79 [95% CI 0.66-0.96], P = 0.016), whereas the T-allele of KNG_7965CT and the A-allele of ADIPOQ_prom2GA were associated with increased risk of nephropathy (1.17 [1.03-1.32], P = 0.016; 1.46 [1.11-1.93], P = 0.006, respectively). Analyses of the transmission disequilibrium test showed similar trends only for ADIPOQ_prom2GA with the overtransmission of the A-allele to patients with diabetic nephropathy (1.52 [0.86-2.66], P = NS) and of the G-allele to patients without diabetic nephropathy (0.50 [0.27-0.92], P = 0.026). The overall significance for this variant (nominal P = 0.011) suggests that ADIPOQ might be involved in the development of diabetic nephropathy.
PubMed ID
17065357 View in PubMed
Less detail

Analysis of the lamin A/C gene as a candidate for type II diabetes susceptibility in Pima Indians.

https://arctichealth.org/en/permalink/ahliterature194139
Source
Diabetologia. 2001 Jun;44(6):779-82
Publication Type
Article
Date
Jun-2001
Author
J K Wolford
R L Hanson
C. Bogardus
M. Prochazka
Author Affiliation
Phoenix Epidemiology and Research Branch, National Institute of Diabetes and Kidney Diseases, National Institutes of Health, Phoenix, Arizona 85016, USA.
Source
Diabetologia. 2001 Jun;44(6):779-82
Date
Jun-2001
Language
English
Publication Type
Article
Keywords
Alleles
Base Sequence - genetics
Body mass index
Diabetes Mellitus, Type 2 - genetics
Gene Frequency
Genotype
Humans
Indians, North American - genetics
Lamin Type A
Lamins
Nuclear Proteins - genetics
Obesity - genetics - pathology
Polymorphism, Genetic - genetics
Abstract
Lamin A/C (LMNA) is located within a region on chromosome 1q that has been linked with Type II (non-insulin-dependent) diabetes mellitus in Pima Indians. Rare mutations in exon 8 of LMNA underlie Dunnigan-Type familial partial lipodystrophy, a disease characterized by regional adipocyte degeneration and frequently accompanied by insulin resistance, glucose intolerance, and diabetes. A more common variant in exon 10 (3408C/T) has recently been associated with obesity in non-diabetic aboriginal Canadian subjects. Because obesity is a strongly predisposing factor for Type II diabetes, we hypothesized that the LMNA 3408C/T variant could be associated with diabetes and body mass index in Pima Indians.
To determine whether the LMNA 3408C/T variant contributes to Type II diabetes susceptibility, we genotyped the polymorphism in 1,338 Pimas using allelic discrimination technology. The locus was screened for additional variants in 20 diabetic Pima Indians and non-diabetic Pima Indians using denaturing high performance liquid chromatography and dideoxy sequencing.
We found no evidence for association of 3408C/T with diabetes, body mass index, total cholesterol, HDL cholesterol, triglycerides, leptin concentrations, or indices of insulin sensitivity and secretion. Subsequent screening of the remaining LMNA exons and flanking sequences revealed only rare variants in intron 4 and the 3'UTR, showing no frequency differences between diabetic and non-diabetic Pima Indians. We reassessed the linkage with diabetes following adjustment for the LMNA 3408C/T variant; adjustment for the effects of LMNA did not substantially modify the evidence for linkage.
We conclude that the LMNA 3408C/T variant probably does not play a role in susceptibility to diabetes or obesity in Pima Indians.
PubMed ID
11440372 View in PubMed
Less detail

Analysis of the type 2 diabetes-associated single nucleotide polymorphisms in the genes IRS1, KCNJ11, and PPARG2 in type 1 diabetes.

https://arctichealth.org/en/permalink/ahliterature181346
Source
Diabetes. 2004 Mar;53(3):870-3
Publication Type
Article
Date
Mar-2004
Author
Christina Eftychi
Joanna M M Howson
Bryan J Barratt
Adrian Vella
Felicity Payne
Deborah J Smyth
Rebecca C J Twells
Neil M Walker
Helen E Rance
Eva Tuomilehto-Wolf
Jaakko Tuomilehto
Dag E Undlien
Kjersti S Rønningen
Cristian Guja
Constantin Ionescu-Tîirgoviste
David A Savage
John A Todd
Author Affiliation
Juvenile Diabetes Research Foundation/Wellcome Trust Diabetes and Inflammation Laboratory, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, U.K.
Source
Diabetes. 2004 Mar;53(3):870-3
Date
Mar-2004
Language
English
Publication Type
Article
Keywords
Adult
Amino Acid Substitution
Canada
Child
Diabetes Mellitus, Type 1 - genetics
Diabetes Mellitus, Type 2 - genetics
Europe
Female
Humans
Insulin Receptor Substrate Proteins
Male
Phosphoproteins - genetics
Polymorphism, Single Nucleotide - genetics
Potassium Channels, Inwardly Rectifying - genetics
Receptors, Cytoplasmic and Nuclear - genetics
Transcription Factors - genetics
Abstract
It has been proposed that type 1 and 2 diabetes might share common pathophysiological pathways and, to some extent, genetic background. However, to date there has been no convincing data to establish a molecular genetic link between them. We have genotyped three single nucleotide polymorphisms associated with type 2 diabetes in a large type 1 diabetic family collection of European descent: Gly972Arg in the insulin receptor substrate 1 (IRS1) gene, Glu23Lys in the potassium inwardly-rectifying channel gene (KCNJ11), and Pro12Ala in the peroxisome proliferative-activated receptor gamma2 gene (PPARG2). We were unable to confirm a recently published association of the IRS1 Gly972Arg variant with type 1 diabetes. Moreover, KCNJ11 Glu23Lys showed no association with type 1 diabetes (P > 0.05). However, the PPARG2 Pro12Ala variant showed evidence of association (RR 1.15, 95% CI 1.04-1.28, P = 0.008). Additional studies need to be conducted to confirm this result.
PubMed ID
14988278 View in PubMed
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Analysis of the type 2 diabetes gene, TCF7L2, in 13,795 type 1 diabetes cases and control subjects.

https://arctichealth.org/en/permalink/ahliterature166892
Source
Diabetologia. 2007 Jan;50(1):212-3
Publication Type
Article
Date
Jan-2007
Author
S F Field
J M M Howson
D J Smyth
N M Walker
D B Dunger
J A Todd
Source
Diabetologia. 2007 Jan;50(1):212-3
Date
Jan-2007
Language
English
Publication Type
Article
Keywords
Alleles
Case-Control Studies
Denmark
Diabetes Mellitus, Type 1 - genetics
Diabetes Mellitus, Type 2 - genetics
Genetic Predisposition to Disease - genetics
Humans
Iceland
Polymorphism, Single Nucleotide - genetics
Risk factors
TCF Transcription Factors - genetics
Transcription Factor 7-Like 2 Protein
United States
Notes
Cites: Diabetologia. 2001 Jul;44(7):914-2211508279
Cites: Nat Genet. 2006 Mar;38(3):320-316415884
Cites: Diabetes. 2006 Sep;55(9):2649-5316936217
Cites: Arch Dis Child. 2005 Oct;90(10):1039-4416177159
Cites: Int J Epidemiol. 2006 Feb;35(1):34-4116155052
Cites: N Engl J Med. 2006 Jul 20;355(3):241-5016855264
Cites: Diabetes. 2006 Sep;55(9):2640-416936215
Cites: Diabetes. 2006 Sep;55(9):2645-816936216
Comment In: Diabetologia. 2007 Aug;50(8):178017589824
PubMed ID
17063324 View in PubMed
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202 records – page 1 of 21.