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A 9.6 kilobase deletion in the low density lipoprotein receptor gene in Norwegian familial hypercholesterolemia subjects.

https://arctichealth.org/en/permalink/ahliterature36531
Source
Clin Genet. 1992 Dec;42(6):288-95
Publication Type
Article
Date
Dec-1992
Author
O K Rødningen
O. Røsby
S. Tonstad
L. Ose
K. Berg
T P Leren
Author Affiliation
Department of Medical Genetics, Ullevål Hospital, Oslo, Norway.
Source
Clin Genet. 1992 Dec;42(6):288-95
Date
Dec-1992
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Aged
Base Sequence
Blotting, Southern
Child
Cholesterol - blood
DNA - analysis
Exons - genetics
Female
Haplotypes
Humans
Hypercholesterolemia, Familial - genetics
Male
Middle Aged
Molecular Sequence Data
Norway
Pedigree
Polymerase Chain Reaction
Polymorphism, Restriction Fragment Length
Receptors, LDL - genetics
Research Support, Non-U.S. Gov't
Sequence Analysis, DNA
Sequence Deletion
Xanthomatosis - etiology
Abstract
Haplotype analysis of the low density lipoprotein receptor (LDLR) gene was performed in Norwegian subjects heterozygous for familial hypercholesterolemia (FH). Southern blot analysis of genomic DNA, using an exon 18 specific probe and the restriction enzyme NcoI, showed that two out of 57 unrelated FH subjects had an abnormal 3.6 kb band. Further analyses revealed that this abnormal band was due to a 9.6 kb deletion that included exons 16 and 17. The 5' deletion breakpoint was after 245 bp of intron 15, and the 3' deletion breakpoint was in exon 18 after nucleotide 3390 of cDNA. Thus, both the membrane-spanning and cytoplasmatic domains of the receptor had been deleted. A polymerase chain reaction (PCR) method was developed to identify this deletion among other Norwegian FH subjects. As a result of this screening one additional subject was found out of 124 subjects screened. Thus, three out of 181 (1.7%) unrelated Norwegian FH subject possessed this deletion. The deletion was found on the same haplotype in the three unrelated subjects, suggesting a common mutagenic event. The deletion is identical to a deletion (FH-Helsinki) that is very common among Finnish FH subjects. However, it is not yet known whether the mutations evolved separately in the two countries.
PubMed ID
1362925 View in PubMed
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Action levels for obesity treatment in 40 to 42-y-old men and women compared with action levels for prevention of coronary heart disease.

https://arctichealth.org/en/permalink/ahliterature47627
Source
Int J Obes Relat Metab Disord. 2001 Nov;25(11):1698-704
Publication Type
Article
Date
Nov-2001
Author
S. Tonstad
S. Graff-Iversen
Author Affiliation
Preventive Cardiology, Department of Medicine, Ullevål Hospital, Oslo, Norway. sesrena.tonstad@ulleval.no
Source
Int J Obes Relat Metab Disord. 2001 Nov;25(11):1698-704
Date
Nov-2001
Language
English
Publication Type
Article
Keywords
Abdomen
Adult
Anthropometry
Body mass index
Comparative Study
Coronary Disease - epidemiology - prevention & control
Female
Humans
Male
Mass Screening - methods
Norway - epidemiology
Obesity - epidemiology - prevention & control
Practice Guidelines
Predictive value of tests
Prevalence
Risk factors
Sensitivity and specificity
Sex Factors
Abstract
BACKGROUND: Guidelines for treating overweight and obesity have been suggested by the World Health Organization and other expert groups. We asked whether most men and women targeted in obesity guidelines would already be included in existing clinical recommendations for the prevention of coronary heart disease (CHD) or whether a new group of patients would be added to current workloads. SUBJECTS AND METHODS: In 1997 the Norwegian National Health Screening Service examined CHD risk factors in subjects aged 40-42 y living in three counties. We studied 6911 men and 7992 women who did not report treatment for diabetes, hypertension or the presence of cardiovascular disease. Estimated 10 y risk of CHD was calculated using the Framingham equation. RESULTS: The prevalence of single risk factors (systolic blood pressure > or =160 mmHg, diastolic blood pressure > or =95 mmHg, total cholesterol level > or =7.8 mmol/l and nonfasting glucose > or =11.1 mmol/l) ranged between 0 and 11% among subjects with body mass index > or =25 kg/m2. Adding low HDL cholesterol ( or =10%). Sensitivities and specificities of using body mass index (BMI) or BMI and waist circumference as a screen for elevated CHD risk ranged between 22 and 91%. Screening for 10 y CHD risk of > or =10% or one or more risk factors among men and screening for one or more risk factors among women gave positive predictive values of 19-50%; however, the positive predictive value of screening for 10 y CHD risk of > or =10% was only 1-2% among women. Compared with men with BMI
PubMed ID
11753593 View in PubMed
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[Antioxidants and cardiovascular disorders--epidemiologic aspects. Should high risk patients receive supplementation?].

https://arctichealth.org/en/permalink/ahliterature215980
Source
Tidsskr Nor Laegeforen. 1995 Jan 20;115(2):227-9
Publication Type
Article
Date
Jan-20-1995
Author
S. Tonstad
Author Affiliation
Lipidklinikken, Medisinsk avdeling A, Rikshospitalet, Oslo.
Source
Tidsskr Nor Laegeforen. 1995 Jan 20;115(2):227-9
Date
Jan-20-1995
Language
Norwegian
Publication Type
Article
Keywords
Antioxidants - administration & dosage
Ascorbic Acid - administration & dosage
Cardiovascular Diseases - epidemiology - prevention & control
Carotenoids - administration & dosage
Case-Control Studies
Cohort Studies
Female
Humans
Intervention Studies
Male
Norway - epidemiology
Prospective Studies
Risk factors
Vitamin E - administration & dosage
Abstract
Dietary antioxidants such as vitamin E, vitamin C, beta carotene and flavonoids may retard atherosclerosis by preventing low density lipoprotein oxidation. Observational epidemiological studies, including ecological correlations, case control and prospective studies, indicate that high vitamin E levels may be associated with decreased cardiovascular disease. Beta carotene may be protective among smokers and the elderly. Few studies have been able to show that vitamin C has a protective effect. A handful of intervention studies have examined the effects of vitamin E and beta carotene with mixed results. While few side effects of antioxidant supplementation are known, the results of current, large-scale studies in primary intervention must be awaited before recommendations can be made. Increased intake of fruits and vegetables that are rich in antioxidants is recommended.
PubMed ID
7855818 View in PubMed
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[Application of gene technology in the diagnosis of familial hypercholesterolemia]

https://arctichealth.org/en/permalink/ahliterature54549
Source
Tidsskr Nor Laegeforen. 1997 Feb 20;117(5):678-81
Publication Type
Article
Date
Feb-20-1997
Author
T P Leren
K S Bakken
O K Rødningen
K E Gundersen
H. Sundvold
K. Berg
S. Tonstad
L. Ose
Author Affiliation
Avdeling for medisinsk genetikk, Ullevål sykehus, Blindern, Oslo.
Source
Tidsskr Nor Laegeforen. 1997 Feb 20;117(5):678-81
Date
Feb-20-1997
Language
Norwegian
Publication Type
Article
Keywords
DNA Mutational Analysis
English Abstract
Female
Genetic Techniques
Humans
Hypercholesterolemia, Familial - diagnosis - genetics
Male
Norway
Receptors, LDL - genetics
Research Support, Non-U.S. Gov't
Abstract
Familial hypercholesterolaemia is an autosomal dominant disorder characterized by hypercholesterolaemia, xanthomas and premature coronary heart disease. Treatment of hypercholesterolemia is effective and consists of dietary changes and lipid lowering drugs. Only a minor proportion of familial hypercholesterolaemia patients are adequately treated, however. One explanation for this is assumed to be the relatively vague clinical diagnostic criteria applied. Because familial hypercholesterolaemia is caused by a mutation in the gene encoding the low density lipoprotein (LDL) receptor, mutation analysis of this gene could form the basis for specific diagnosis. 29 different mutations in the LDL receptor gene have been found to cause familial hypercholesterolaemia among Norwegian patients, and a total of 681 patients from 322 unrelated families have been provided with a molecular genetic diagnosis. We conclude that the use of molecular genetic analysis is feasible, and should be used clinically.
PubMed ID
9102960 View in PubMed
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[Attitude to genetic screening for familial hypercholesterolemia].

https://arctichealth.org/en/permalink/ahliterature205477
Source
Tidsskr Nor Laegeforen. 1998 Apr 20;118(10):1578-81
Publication Type
Article
Date
Apr-20-1998
Author
L. Ose
L E Vollebaek
S. Tonstad
Author Affiliation
Medisinsk avdeling A Rikshospitalet, Oslo.
Source
Tidsskr Nor Laegeforen. 1998 Apr 20;118(10):1578-81
Date
Apr-20-1998
Language
Norwegian
Publication Type
Article
Keywords
Attitude to Health
Confidentiality
Genetic Testing
Humans
Hyperlipoproteinemia Type II - genetics - prevention & control
Norway
Patient Education as Topic
Abstract
Familial hypercholesterolemia causes premature cardiovascular disease. Genetic screening of patients' relatives who have already been diagnosed has proved to be more efficient than screening in a general population. Privacy laws in Norway forbid physicians to directly contact persons with genetic disorders who are not their own patients. We examined attitudes towards this type of screening in a representative sample of the Norwegian population and a group of patients with familial hypercholesterolaemia. In both groups the majority showed a positive attitude towards physicians contacting relatives directly to detect individuals with familial hypercholesterolaemia. In both groups the majority wanted to know whether, based on the diagnosis of relatives, they might also be affected. Both groups wanted this information regardless of the risk of their being affected. We conclude that the privacy laws should be amended to conform with the attitudes of the population and the patients, thus enabling physicians to contact relatives directly.
PubMed ID
9615587 View in PubMed
Less detail

[Biotechnology and familial hypercholesterolemia].

https://arctichealth.org/en/permalink/ahliterature206662
Source
Tidsskr Nor Laegeforen. 1997 Sep 10;117(21):3124
Publication Type
Article
Date
Sep-10-1997
Author
S. Tonstad
Source
Tidsskr Nor Laegeforen. 1997 Sep 10;117(21):3124
Date
Sep-10-1997
Language
Norwegian
Publication Type
Article
Keywords
Biotechnology
Genetic Counseling
Humans
Hyperlipoproteinemia Type II - diagnosis - genetics
Legislation, Medical
Norway
PubMed ID
9381451 View in PubMed
Less detail

Determinants of lipid levels among children with heterozygous familial hypercholesterolemia in Norway.

https://arctichealth.org/en/permalink/ahliterature35222
Source
Arterioscler Thromb Vasc Biol. 1995 Aug;15(8):1009-14
Publication Type
Article
Date
Aug-1995
Author
S. Tonstad
T P Leren
M. Sivertsen
L. Ose
Author Affiliation
Medical Department A, National Hospital, Oslo, Norway.
Source
Arterioscler Thromb Vasc Biol. 1995 Aug;15(8):1009-14
Date
Aug-1995
Language
English
Publication Type
Article
Keywords
Adolescent
Apolipoproteins E - genetics
Body Composition
Child
Diet
Female
Heterozygote
Humans
Hypercholesterolemia, Familial - blood
Lipids - blood
Lipoproteins - blood
Lipoproteins, LDL Cholesterol - blood
Male
Norway
Polymorphism, Genetic
Regression Analysis
Abstract
Three founder mutations have been discovered among individuals with familial hypercholesterolemia (FH) in Norway: FHElverum and FHSvartor, predicted to be null alleles, and FHC210G, predicted to disrupt the secondary structure of the ligand-binding domain. To clarify the effect of these and other mutations on lipid levels and parental history of premature cardiovascular disease, we examined 164 boys and girls ages 6 to 16 years with heterozygous FH. Among all children, serum cholesterol levels of the FH parent, percent body fat, pubertal stage, and serum cholesterol levels of the non-FH parent, but not apo E polymorphism, were significant determinants of LDL cholesterol levels in a stepwise multiple regression equation and explained 40% (95% confidence interval [Cl], 25% to 55%) of the variance in LDL cholesterol. Among boys, percent body fat, dietary sucrose, and apo E genotype determined 31% (95% CI, 14% to 49%) of the variance in triglyceride levels; whereas among girls, only percent body fat was associated with triglyceride levels. Percent body fat was not associated with LDL cholesterol or triglyceride levels in the FHC210G group. The children's and FH parents' lipid levels and premature cardiovascular disease among parents were similar among the null-allele and defective-protein groups and in those with an undetected mutation. These data confirm that the phenotypic expression of FH in childhood is influenced by modifiable lifestyle characteristics and by genetic factors other than the underlying mutation and raise the possibility that body fatness may interact with genotype in determining lipid levels.
PubMed ID
7627689 View in PubMed
Less detail

[Diagnosis and treatment of severe hyperlipidemia]

https://arctichealth.org/en/permalink/ahliterature48140
Source
Tidsskr Nor Laegeforen. 1997 Nov 30;117(29):4241-4
Publication Type
Article
Date
Nov-30-1997
Author
S. Tonstad
T P Leren
L. Ose
Author Affiliation
Lipidklinikken Rikshospitalet, Oslo.
Source
Tidsskr Nor Laegeforen. 1997 Nov 30;117(29):4241-4
Date
Nov-30-1997
Language
Norwegian
Publication Type
Article
Keywords
Adult
Anticholesteremic Agents - therapeutic use
Antilipemic Agents - therapeutic use
English Abstract
Food Habits
Heterozygote
Homozygote
Humans
Hypercholesterolemia - diagnosis - drug therapy - genetics
Hypercholesterolemia, Familial - diagnosis - drug therapy - genetics
Hyperlipidemia, Familial Combined - diagnosis - drug therapy - genetics
Life Style
Male
Middle Aged
Abstract
Though severe hyperlipidaemia (total cholesterol level > or = 13 mmol/l in this study) is uncommon, it is important to make a precise diagnosis. We examined 57 patients with isolated severe hypercholesterolaemia. Of these, four were homozygotes for familial hypercholesterolaemia, 48 were heterozygotes for familial hypercholesterolacmia and one had sitosterolemia. The heterozygotes carried 15 different LDL receptor mutations, with no one mutation predominating. When the diagnosis is made, relatives should be given the opportunity to be tested. Combined severe hyperlipidaemia is usually due to a secondary cause, at our clinic, the most common cause is diabetes mellitus. The underlying disease should be treated first. However, many patients will require additional lipid-lowering drugs because the underlying disease may be associated with an increased risk of cardiovascular disease. With the exception of fish oil capsules, drugs that reduce serum triglyceride levels substantially are not registered in Norway at present.
PubMed ID
9441469 View in PubMed
Less detail

[Diet and secondary prevention of coronary heart disease--are our recommendations good enough?]

https://arctichealth.org/en/permalink/ahliterature53924
Source
Tidsskr Nor Laegeforen. 2001 Mar 30;121(9):1092-8
Publication Type
Article
Date
Mar-30-2001
Author
L K Johnson
I. Hjermann
S. Tonstad
Author Affiliation
Hjerterehabiliteringen Medisinsk avdeling Sentralsykehuset i Vestfold 3116 Tønsberg. lkjohn@frisurf.no
Source
Tidsskr Nor Laegeforen. 2001 Mar 30;121(9):1092-8
Date
Mar-30-2001
Language
Norwegian
Publication Type
Article
Keywords
Coronary Disease - diet therapy - mortality - prevention & control
Diet, Atherogenic
Diet, Fat-Restricted
Dietary Fats - administration & dosage
Dietary Services
English Abstract
Fish Oils - administration & dosage
Food Habits
Humans
Lipids - blood
Oleic Acids - administration & dosage
Practice Guidelines
Randomized Controlled Trials
Vegetables
alpha-Linolenic Acid - administration & dosage
Abstract
BACKGROUND: Dietary treatment plays an important role in prevention of coronary heart disease. In Norway as in other European countries, patients with established coronary heart disease are advised to follow a cholesterol-lowering diet. However, epidemiological observations have suggested that Mediterranean and other diets may have cardioprotective characteristics beyond their effects on serum total and LDL cholesterol levels. MATERIAL AND METHODS: We describe the results of randomised, controlled clinical trials that have investigated the effect of diet on secondary prevention of coronary heart disease. RESULTS: Diets characterised by high contents of oleic acid (18: 1n-9), alpha-linolenic acid (18: 3n-3) and fish or fish oil and near-vegetarian diets have reduced cardiovascular morbidity and mortality in patients with coronary heart disease. INTERPRETATION: Several characteristics of the Mediterranean diet seem to have additional anti-atherothrombogenic effects beyond those observed with the usually recommended cholesterol-lowering diet. We ask whether Norwegian dietary recommendations for secondary prevention, should emphasise more strongly the type of fat used and fruit and vegetable intake, in line with the principles of the Mediterranean diet. Such dietary advice should be incorporated into the medical treatment given to all patients with coronary heart disease, regardless of their lipid profile.
PubMed ID
11354888 View in PubMed
Less detail

DNA polymorphisms of the apolipoprotein B gene (XbaI, EcoRI, and MspI RFLPs) in Norwegians at risk of atherosclerosis and healthy controls.

https://arctichealth.org/en/permalink/ahliterature200678
Source
Acta Cardiol. 1999 Aug;54(4):215-25
Publication Type
Article
Date
Aug-1999
Author
M. Delghandi
R. Thangarajah
M. Nilsen
S. Grimsgaard
K H Bønaa
S. Tonstad
L. Jørgensen
Author Affiliation
Department of Morphology, University of Tromsø, Norway. madjid@fagmed.uit.no
Source
Acta Cardiol. 1999 Aug;54(4):215-25
Date
Aug-1999
Language
English
Publication Type
Article
Keywords
Adult
Alleles
Apolipoproteins B - genetics
Arteriosclerosis - ethnology - genetics
DNA - genetics
European Continental Ancestry Group - genetics
Female
Genetic Linkage
Genotype
Humans
Lipids - blood
Male
Middle Aged
Norway
Polymorphism, Genetic
Polymorphism, Restriction Fragment Length
Risk factors
Sequence Analysis, DNA
Abstract
Apo B is the exclusive protein constituent of LDL and is ligand on LDL, recognized and bound by the LDL receptor. Several restriction fragment length polymorphisms (RFLPs) of the apo B gene have been shown to be associated with variation in serum lipid levels in different populations. In this study we sought to determine the frequency of XbaI, EcoRI, and MspI polymorphisms and the haplotypes generated by these three polymorphic sites of the apo B gene and their influence on lipid levels in a sample of Norwegian subjects at risk of atherosclerosis and healthy control subjects.
108 White Norwegians at risk of atherosclerosis (cases) and 64 healthy individuals (controls) were examined for possible association between the alleles at the XbaI (X), EcoRI (R), and MspI (M) polymorphic restriction sites of the apolipoprotein B gene and serum lipid levels. The frequency of the M allele (absence of restriction site) was significantly higher in cases with high total cholesterol (TC), high low-density lipoprotein cholesterol (LDLC), and high apolipoprotein B (apo B) than in controls with normal TC, LDLC, and apo B (P
PubMed ID
10511898 View in PubMed
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24 records – page 1 of 3.