Genetic and environmental determinants for lipoprotein concentrations in blood

Path and segregation analyses have been performed on cholesterol and triglyceride contents of serum as well as on very low, low and high density lipoproteins in 78 Swedish nuclear families. The effect of environmental variables like alcohol and smoking on the concentrations of the different lipoproteins has been studied. Genetic heritability was 0.16-0.68 for the cholesterol fractions and 0-0.56 for the triglyceride fractions. No major gene was evident for any of the variables studied.     

Analysis of family resemblance for lipids and lipoproteins

A path analysis of published reports on family resemblance reveals an important role for genetic factors in all lipids and lipoproteins, with no evidence of a discrepancy between twins and other relatives (which might be due to dominance or epistasis) nor between studies which used environmental indices and those which did not. Family environment within population is less important and is significantly greater for twins than for other relatives.     

The distribution of the gene for the juvenile type of Gaucher disease in Sweden

A study of 30 Swedish families with the Norrbottnian type of Gaucher disease provides evidence for two clusters of the gene, one close to Overkalix in the northern part of the county of Norrbotten and the other in the vicinity of Arvidsjaur in the southern part of the same county. The gene for Gaucher disease in Overkalix appeared later than that in Arvidsjaur. A founder moving from Arvidsjaur to Overkalix during the seventeenth century or two different mutations are the most likely explanations of this finding.     

Outcome and quality of life 5 years after major trauma

BACKGROUND: This study aimed to determine quality of life after injury and identify factors potentially associated with outcome. METHODS: Five years after injury from blunt or penetrating trauma, patients received a questionnaire based on the SF-36 Health Survey. RESULTS: Two hundred five patients (83%) replied. Most were men, median age 39 years, 93% injured by blunt energy, median Injury Severity Score 14 (range 9-57). Mean SF-36 scores were significantly lower than in a matched reference group. Poor outcome was associated with: in-hospital days, intensive care days, surgical procedures, in-hospital major complications, age, recurrent injury, and inadequate information. Subjects reported considerable physical (68%) and psychologic (41%) disabilities. Near half reported need of improved follow-up care. Injury severity did not predict poor health-related quality of life 5 years later. CONCLUSION: Adequate information, sufficient pain management and follow-up by trauma specialist teams are needed. Certain factors can help identify patients in need of additional help and support.     

Sjögren-Larsson syndrome in Sweden: distribution of the gene

The distribution of carriers of the gene for Sjögren-Larsson syndrome in Sweden suggests a center of dispersion in the county of Västerbotten in Northern Sweden. The origin of the spread of the gene can be traced back at least 700 years.     

Cluster Headache is an Inherited Disorder in Some Families

We investigated the familial occurrence of cluster headache in 370 probands with cluster headache, diagnosed according to the operational diagnostic criteria of the International Headache Society. Seven probands belonged to three families. A positive family history of cluster headache was found in 7% (25 of 366) of the families. Compared with the general population, the first- and second-degree relatives of the 370 probands with cluster headache had a 14- and 2-fold increased risk of having cluster headache, after standardization for sex and age. This increased familial risk strongly suggests that cluster headache has a genetic cause. The patterns of segregation were assessed by complex segregation analysis performed with the computer program, POINTER. The segregation analysis suggests that cluster headache has an autosomal dominant gene with a penetrance of 0.30 to 0.34 in males and 0.17 to 0.21 in females. The gene is present in 3% to 4% of males and 7% to 10% of females with cluster headache.     

Family study of genetic and environmental factors determining the protein binding of propranolol

The unbound fraction of propranolol was found to vary from 1.9 to 13.2% in 434 plasma samples from members of 132 families. As expected, there was a linear correlation between the ratio of bound/unbound propranolol and the orosomucoid concentration (r = 0.67, P less than 0.001). Albumin concentration did not influence propranolol binding. The unbound fraction was negatively correlated with obesity and alcohol intake, but was not significantly influenced by age and sex. By applying path analysis, 21% of the variability in propranolol binding could be ascribed to genetic factors and 5% to common environmental factors.     

Complex segregation analysis of the Lp(a)/pre-ß1-lipoprotein trait

Complex segregation analysis of the LpCaypre-β₁-lipoprotein trait in 229 nuclear families gave strong evidence for a major gene with complete dominance for pre-β+and gene frequency q = 0.10. The penetrance is 0.917. There was no evidence for either polygenic heritability or environment common to sibs.