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.
The Cardiovascular Risk in Young Finns Study is an on-going multicentre study of atherosclerosis precursors in Finnish children and young adults. We have collected risk factor data in the 21-year follow-up performed in 2001. The aims of this analysis were to examine the levels, secular trends and east-west difference in risk factors amongst young adults.
Population based follow-up study.
A total of 2283 participants aged 24-39 years in 2001 (63.5% of the original cohort).
Levels of serum lipids, apolipoproteins, blood pressure and smoking.
The mean serum total cholesterol, low density lipoprotein cholesterol, high density lipoprotein (HDL) cholesterol and triglyceride concentrations in 24-39-year-old adults were 5.16, 3.27, 1.29 and 1.34 mmol L(-1), respectively. Total cholesterol (5.21 vs. 5.12 mmol L(-1), P = 0.046), HDL cholesterol (1.31 vs. 1.28 mmol L(-1), P = 0.027), systolic blood pressure (118 vs. 115 mmHg, P
The aim of this study is to describe the 21 year trends in myocardial infarction among middle-aged inhabitants in the city of Turku, in southwestern Finland. Since 1972 the coronary register in Turku has monitored acute coronary events leading to hospital admission or death, first according to the methods of the World Health Organization Heart Attack Register Study, and since 1982 according to the methods of the WHO MONICA. From 1972 to 1992 we registered 7374 events of suspected myocardial infarction, of which 6045 events occurring in inhabitants of Turku aged 35-64 years, fulfilled the criteria for myocardial infarction. Within 28 days, 2266 coronary events proved fatal. During the 21-year period, the incidence of definite myocardial infarction fell by 55% in men and by 62% in women, and coronary mortality fell by 66 and 81%, respectively. From 1972 to 1982, total mortality and coronary mortality decreased in parallel. Later on, the decrease in total mortality levelled off, even though coronary mortality fell still steeper, because mortality from external causes of death increased. The favourable long-term trends reflect favourable changes in total cholesterol and blood pressure in the middle-aged population, and the improvement in the treatment of myocardial infarction. Further efforts are needed to enhance this trend, but also to reduce total mortality among middle-aged people.
Notes
Comment In: Eur Heart J. 1996 Oct;17(10):1455-68909894
The -629C>A polymorphism in the CETP gene does not explain the association of TaqIB polymorphism with risk and age of myocardial infarction in Icelandic men.
The aim of this study was to examine whether the well-established effect of the common TaqIB polymorphism in intron 1 of the gene for cholesterol ester transfer protein (CETP) on high density lipoprotein cholesterol (HDL-C) concentration and increased risk of myocardial infarction (MI), could be explained by the recently identified -629C>A functional polymorphism in the promoter. Non-fatal MI cases (388 male) and a control group of 794 healthy men were recruited from the 30 year long prospective Reykjavik Study. In the healthy men the frequency of the TaqIB B2 allele was 0.47 (95% CI: 0.44-0.50) and there was a strong allelic association with the -629A allele (D=-0.21, P
Risk factors for the development of stroke was studied in a prospective long-term investigation of 855 male in a random population sampled of the same age. After 13 years of follow-up 25 participants had suffered from stroke, which gives an incidence of 19/10,000 annually. At the 1963 year investigation several parametras were studied. The stroke-prone person had higher values of systolic and diastolic blood pressure and had a significant greater total heart volume. Blood parametras as the fasting of serum cholesterole, triglyceride and erytrocyte sedimentation rate were significantly elevated in those who developed stroke. They also tended to consume more coffee and showed a higher tobacco consumption. By applying the multiple regression model it was disclosed that the most predective risk-variables were diastolic blood pressure, erytrocyte sedimentation rate and smoking habits.
The promoter sequence variant -480T in the hepatic lipase gene (LIPC) has been shown to be significantly associated with low post-heparin hepatic lipase activity. Some studies have also found that the -480T variant is associated with elevation in plasma HDL cholesterol. We tested for associations of LIPC -480T with plasma lipoprotein traits in samples taken from three distinct Canadian populations: 657 Alberta Hutterites, 328 Ontario Oji-Cree and 210 Keewatin Inuit. Plasma HL activity was not available for analyses. The LIPC -480T allele frequencies in these three groups, respectively, were 0.219, 0.527 and 0.383, and the prevalence of LIPC -480T/T homozygotes was, respectively, 0.042, 0.274 and 0.167. No significant association was found between LIPC -480T and plasma HDL cholesterol or apolipoprotein AI concentration, after adjusting for covariates including gender and body mass index. There was no consistent relationship between the population mean plasma HDL cholesterol concentration and the population LIPC -480T frequency. Our findings are consistent with the idea that the common promoter variation in LIPC, which has been reported to be associated with variation in post heparin HL activity and HDL triglyceride concentration, is not always associated with variation in plasma HDL cholesterol concentration, possibly due to yet unspecified environmental or genetic factors.
BACKGROUND: Elevated concentrations of plasma total homocysteine (tHcy) and serum total cholesterol are risk factors for ischemic heart disease (IHD). Previous studies showed that the consumption of very high doses of unfiltered coffee increases tHcy and total cholesterol. OBJECTIVE: A prospective intervention study was performed to assess the effects of coffee consumption on the concentrations of tHcy and total cholesterol by using doses and brewing methods common in southeastern Norway. DESIGN: The study was an unblinded, controlled trial with 191 healthy, nonsmoking, coffee-drinking volunteers aged 24-69 y randomly assigned to 3 groups who were asked to consume for 6 consecutive weeks no coffee, 1-3 cups (approximately 175-525 mL)/d, or > or =4 cups (approximately 700 mL)/d prepared in the manner to which they were accustomed. Blood samples were drawn when the subjects were randomly assigned and at 3 and 6 wk of the trial. Dietary data were collected by questionnaire. RESULTS: Ninety-seven percent of the participants reported being regular consumers of caffeinated filtered coffee. Abstention from coffee for 6 wk was associated with a decrease in the tHcy concentration of 1.08 micromol/L and a decrease in the total cholesterol concentration of 0.28 mmol/L in participants who had been drinking on average 4 cups of filtered coffee daily for the past year. Adjustments for several possible confounders did not alter the results. CONCLUSION: Abstention from filtered coffee in doses that are commonly consumed was associated with lower concentrations of tHcy and total cholesterol.
We analyzed subfraction composition of HDL and cholesterol-acceptor properties of the plasma in Russian men with high and low HDL cholesterol. HDL were subfractionated by two-dimensional electrophoresis in agarose-polyacrylamide gel. The content of pre-beta1 HDL increased in individuals with high concentration of HDL cholesterol and strictly correlated with acception of cellular cholesterol in both groups.
Obesity Research Unit, Department of Medicine, Division of Endocrinology, Helsinki University Central Hospital and University of Helsinki, Helsinki, Finland.
The effects of acquired obesity on lipid profile and lipoprotein composition in rare BMI-discordant monozygotic (MZ) twin pairs were studied.
Abdominal fat distribution, liver fat (magnetic resonance imaging and spectroscopy), fasting serum lipid profile (ultracentrifugation, gradient gel-electrophoresis, and colorimetric enzymatic methods), and lifestyle factors (questionnaires and diaries) were assessed in 15 BMI-discordant (within-pair difference [?] in BMI >3 kg/m2) and nin concordant (?BMI
Fibrinogen (FBG) and total coagulation factor VII (FVIIc) concentrations are higher in those patients with coronary artery disease who are at increased future risk of acute ischemic events. The relationship between activated factor VII (FVIIa) and cardiovascular events, however, has not been intensively studied. Data were collected from 401 consecutive patients who underwent coronary angiography because of suspected coronary artery disease. Conventional risk factors FVIIc, FVIIa and FBG were assessed in relation to the severity of coronary artery disease, left ventricular ejection fraction, and previous clinical events. A strong positive correlation was found between FVIIa and FVIIc (p
