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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
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Missense mutations in the human insulin promoter factor-1 gene and their relation to maturity-onset diabetes of the young and late-onset type 2 diabetes mellitus in caucasians.

https://arctichealth.org/en/permalink/ahliterature47891
Source
J Clin Endocrinol Metab. 2000 Mar;85(3):1323-6
Publication Type
Article
Date
Mar-2000
Author
L. Hansen
S. Urioste
H V Petersen
J N Jensen
H. Eiberg
F. Barbetti
P. Serup
T. Hansen
O. Pedersen
Author Affiliation
Steno Diabetes Center, Gentofte, Denmark.
Source
J Clin Endocrinol Metab. 2000 Mar;85(3):1323-6
Date
Mar-2000
Language
English
Publication Type
Article
Keywords
3T3 Cells
Adult
Age of Onset
Aged
Aged, 80 and over
Animals
DNA - genetics
DNA Mutational Analysis
Denmark
Diabetes Mellitus, Type 2 - genetics
European Continental Ancestry Group
Female
Heterozygote
Homeodomain Proteins
Humans
Male
Mice
Middle Aged
Mutagenesis
Mutation, Missense - genetics
Polymorphism, Single-Stranded Conformational
Research Support, Non-U.S. Gov't
Trans-Activation (Genetics) - genetics
Trans-Activators - genetics
Abstract
Increasing evidence suggests that defects in genes encoding transcription factors that are expressed in the pancreatic beta-cells may be important contributors to the genetic basis of type 2 diabetes mellitus. Maturity-onset diabetes of the young (MODY) now exists in five subtypes (MODY1-5), four of which are caused by mutations in transcription factors hepatocyte nuclear factor-4alpha (HNF-4alpha), HNF-1alpha, insulin promoter factor-1 (IPF-1), and HNF-1beta (MODY1, -3, -4, and -5). Recent evidence from the British population even suggested that IPF-1 may be a predisposing gene for type 2 diabetes. Thus, highlighting the potential role of this transcription factor in the genetic basis of Danish and Italian MODY as well as in Danish patients with late-onset type 2 diabetes mellitus, we have examined the human IPF-1 gene for mutations by single strand conformation polymorphism and heteroduplex analysis in 200 Danish patients with late-onset type 2 diabetes and in 44 Danish and Italian MODY patients. In the patients with late-onset type 2 diabetes we identified a noncoding G insertion/deletion polymorphism at nucleotide -108, a silent G54G, and a rare missense D76N variant. Moreover, a Danish MODY patient was carrier of an A140T variant. Neither the D76N nor the A140T segregated with diabetes, and their transcriptional activation of the human insulin promoter expressed in vitro was indistinguishable from that of the wild type (115 +/- 21% and 84 +/- 12% vs. 100%). We conclude that variants in IPF-1 are not a common cause of MODY or late-onset type 2 diabetes in the Caucasian population, and that in terms of insulin transcription both the N76 and the T140 mutations are likely to represent functionally normal IPF-1 variants with no direct role in the pathogenesis of MODY or late-onset type 2 diabetes mellitus.
PubMed ID
10720084 View in PubMed
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NeuroD/BETA2 gene variability and diabetes: no associations to late-onset type 2 diabetes but an A45 allele may represent a susceptibility marker for type 1 diabetes among Danes. Danish Study Group of Diabetes in Childhood, and the Danish IDDM Epidemiology and Genetics Group.

https://arctichealth.org/en/permalink/ahliterature47842
Source
Diabetes. 2000 May;49(5):876-8
Publication Type
Article
Date
May-2000
Author
L. Hansen
J N Jensen
S. Urioste
H V Petersen
F. Pociot
H. Eiberg
O P Kristiansen
T. Hansen
P. Serup
J. Nerup
O. Pedersen
Author Affiliation
Steno Diabetes Center, Panum Institute, University of Copenhagen, Denmark. larh@hagedorn.dk
Source
Diabetes. 2000 May;49(5):876-8
Date
May-2000
Language
English
Publication Type
Article
Keywords
Age of Onset
Alleles
Basic Helix-Loop-Helix Transcription Factors
DNA-Binding Proteins - genetics
Denmark
Diabetes Mellitus - genetics
Diabetes Mellitus, Type 1 - genetics
Diabetes Mellitus, Type 2 - epidemiology - genetics
Genetic markers
Genetic Predisposition to Disease
Humans
Molecular Sequence Data
Research Support, Non-U.S. Gov't
Trans-Activators - genetics
Variation (Genetics)
Abstract
Mutations in the NeuroD/BETA2 gene have been shown to associate with type 2 diabetes. In the present study, we examined mutations in the NeuroD/BETA2 gene for association with either type 1 or 2 diabetes. Three variants were identified in patients with type 2 diabetes: Ala45Thr (allelic frequency 0.36, 95% CI 0.31-0.41), Pro197His (0.01), and Ser259Ser (0.01). Ala45Thr and Pro197His were not associated with type 2 diabetes, but the transmission disequilibrium test showed unequal transmission of the A45 allele to offspring with type 1 diabetes (chi2 = 5.90, P
PubMed ID
10905500 View in PubMed
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Plasma calprotectin levels reflect disease severity in patients with chronic heart failure.

https://arctichealth.org/en/permalink/ahliterature131653
Source
Eur J Prev Cardiol. 2012 Oct;19(5):999-1004
Publication Type
Article
Date
Oct-2012
Author
Louise J N Jensen
Caroline Kistorp
Mette Bjerre
Ilan Raymond
Allan Flyvbjerg
Author Affiliation
The Medical Research Laboratories, Institute of Clinical Medicine, Aarhus University and Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus, Denmark. ljnoergaard@hotmail.com
Source
Eur J Prev Cardiol. 2012 Oct;19(5):999-1004
Date
Oct-2012
Language
English
Publication Type
Article
Keywords
Aged
Biological Markers - blood
Denmark - epidemiology
Echocardiography
Enzyme-Linked Immunosorbent Assay
Female
Follow-Up Studies
Heart Failure - blood - diagnosis - mortality
Humans
Leukocyte L1 Antigen Complex - blood
Male
Prognosis
Severity of Illness Index
Stroke Volume
Survival Rate - trends
Ventricular Function, Left - physiology
Abstract
Low-grade inflammation has been associated with cardiovascular disease (CVD) and chronic heart failure (CHF). The aim of the present study was to investigate the potential usefulness of the inflammatory protein calprotectin as a biomarker in CHF.
Plasma calprotectin was measured in 193 CHF patients with left ventricular function
PubMed ID
21890535 View in PubMed
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Polymorphisms in the neurogenin 3 gene (NEUROG) and their relation to altered insulin secretion and diabetes in the Danish Caucasian population.

https://arctichealth.org/en/permalink/ahliterature47760
Source
Diabetologia. 2001 Jan;44(1):123-6
Publication Type
Article
Date
Jan-2001
Author
J N Jensen
L. Hansen
C T Ekstrøm
F. Pociot
J. Nerup
T. Hansen
O. Pedersen
Author Affiliation
Steno Diabetes Center, Copenhagen, Denmark.
Source
Diabetologia. 2001 Jan;44(1):123-6
Date
Jan-2001
Language
English
Publication Type
Article
Keywords
3' Untranslated Regions
5' Untranslated Regions
Adult
Alleles
Base Pairing
Basic Helix-Loop-Helix Transcription Factors
Denmark
Diabetes Mellitus, Type 1 - genetics
Diabetes Mellitus, Type 2 - genetics
Female
Gene Deletion
Gene Frequency
Humans
Insulin - secretion
Male
Middle Aged
Mutation, Missense
Nerve Tissue Proteins - genetics
Polymerase Chain Reaction
Polymorphism, Genetic
Polymorphism, Single-Stranded Conformational
Research Support, Non-U.S. Gov't
Abstract
AIM/HYPOTHESIS. Neurogenin 3 (NEUROG3) is a member of the subfamily of basic-helix-loop-helix (bHLH) transcription factors involved in differentiation of the endocrine pancreas and therefore a possible candidate gene for maturity-onset diabetes of the young (MODY) and Type II (non-insulin-dependent) diabetes mellitus. METHODS: Using Polymerase-chain-reaction single-stranded-conformation polymorphism, we examined the coding region including the 5'-untranslated and 3'- untranslated regions of the NEUROG3 in a group of 133 diabetic patients comprising 19 MODY patients, 19 patients with dominant Type I diabetes, and 31 early-onset and 64 late-onset Type II diabetic patients. RESULTS: We found two missense mutations, Glyl67Arg and Serl99Phe, as well as two non-coding variants in the 5' UTR, a c --> t nucleotide variant at position -10 upstream of the start codon in one MODY patient and a 2 base pair (CA) deletion polymorphism at position -44/-45. Allele frequencies measured in 377 diabetic patients and in 217 glucose-tolerant control subjects were: Gly167Arg, 0.04 (95 % CI: 0.02-0.06) and 0.04 (0.02-0.06); Ser199Phe, 0.31 (0.26-0.36) and 0.30 (0.24-0.36); -44-45delCA, 0.33 (0.31-0.35) and 0.35 (0.32-0.38), respectively. Both Ser199Phe and the -44-45delCA were in linkage disequilibrium (chi2 > 60) but the Ser199Phe and the -44-45delCA polymorphism were not associated with consistent changes in fasting- or glucose-induced insulin secretion in 249 glucose-tolerant offspring (first-degree relatives) of Type II diabetic parents or in 217 unrelated middle-aged glucose tolerant subjects. CONCLUSION/INTERPRETATION: Genetic variability in NEUROG3 is not associated with dominant Type I diabetes, MODY, Type II diabetes or changes in insulin secretion in the Danish Caucasians examined subjects.
PubMed ID
11206403 View in PubMed
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Studies of variability in the PTEN gene among Danish caucasian patients with Type II diabetes mellitus.

https://arctichealth.org/en/permalink/ahliterature47738
Source
Diabetologia. 2001 Feb;44(2):237-40
Publication Type
Article
Date
Feb-2001
Author
L. Hansen
J N Jensen
C T Ekstrøm
H. Vestergaard
T. Hansen
O. Pedersen
Author Affiliation
Steno Diabetes Center and Hagedorn Research Institute, Copenhagen, Denmark.
Source
Diabetologia. 2001 Feb;44(2):237-40
Date
Feb-2001
Language
English
Publication Type
Article
Keywords
1-Phosphatidylinositol 3-Kinase - metabolism
Adipose Tissue - drug effects
Adult
Aged
Blood Glucose - analysis
Blood pressure
C-Peptide - blood
Denmark
Diabetes Mellitus, Type 2 - genetics
European Continental Ancestry Group
Exons
Fasting
Gene Frequency
Humans
Insulin - blood - pharmacology
Insulin Resistance
Middle Aged
Muscle, Skeletal - drug effects
PTEN Phosphohydrolase
Phosphatidylinositol Phosphates - metabolism
Phosphoric Monoester Hydrolases - genetics - physiology
Polymerase Chain Reaction
Polymorphism, Genetic
Polymorphism, Restriction Fragment Length
Polymorphism, Single-Stranded Conformational
Research Support, Non-U.S. Gov't
Tumor Suppressor Proteins
Abstract
AIM/HYPOTHESIS: Phosphatase and tensin homologue deleted from chromosome ten (PTEN) has recently been characterized as a novel member in the expanding network of proteins regulating the intracellular effects of insulin. By dephosphorylation of phosphatidyl-inositol-(3, 4, 5)-trisphosphate (PIP3) the PTEN protein regulates the insulin-dependent phosphoinositide 3-kinase (PI3K) signalling cassette and accordingly might function as a regulator of insulin sensitivity in skeletal muscle and adipose tissue. In this study we tested PTEN as a candidate gene for insulin resistance and late-onset Type II (non-insulin-dependent) diabetes mellitus in a Danish Caucasian population. METHODS: The nine exons of the PTEN, including intronic flanking regions were analysed by PCR-SSCP and heteroduplex analysis in 62 patients with insulin-resistant Type II diabetes. RESULTS: No mutations predicted to influence the expression or biological function of the PTEN protein but four intronic polymorphisms were identified: IVS1-96 A-->G (allelic frequency 0.22, 95 % CI: 0.12-0.32), IVS3 + 99 C-->T (0.01, CI: 0-0.03), IVS7-3 TT-->T (0.10, CI: 0.03-0.18) and IVS8 + 32 G-->T (0.35, CI: 0.23-0.47). The IVS8 + 32 G-->T polymorphism was used as a bi-allelic marker for the PTEN locus and examined in 379 patients with Type II diabetes and in 224 control subjects with normal glucose tolerance. The IVS8 + 32 G-->T polymorphism in the PTEN was not associated with Type II diabetes and it did not have any effect on body-mass index, blood pressure, HOMA insulin resistance index, or concentrations of plasma glucose, serum insulin or serum C peptide obtained during an oral glucose tolerance test (OGTT). CONCLUSION/INTERPRETATION: Variability in the PTEN is not a common cause of Type II diabetes in the Danish Caucasian population.
PubMed ID
11270682 View in PubMed
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7 records – page 1 of 1.