Publications (105) View all
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Article: Heritability of Health-Related Quality of Life: SF-12 Summary Scores in a Population-Based Nationwide Twin Cohort.
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ABSTRACT: Aim: The present study aims to estimate the relative importance of genetic and environmental factors for health-related quality of life (HRQL) measured by the 12-item Short-Form Health Survey (SF-12). Methods: The study was based on two Danish twin cohorts (46,417 twin individuals) originating from the nationwide, population-based Danish Twin Registry. The twins were approached by a mailed-out questionnaire in 2002. The questionnaire included the SF-12, information on demographic factors, and questions on a variety of specific diseases. Heritability of the SF-12 includes the physical component summary (PCS) and the mental component summary (MCS); and etiologically important variance components were estimated using multivariate biometric models. The respondents were stratified into six groups, based on age and sex. Results: A total of 33,794 (73%) individual twins responded to the survey. The SF-12 was completed by 29,619 individuals, which included 9,120 complete twin pairs. Overall, the best-fitting model explaining the variance of HRQL was the ACE model. The estimated heritability of the SF-12 was between 11% and 35%, whereas between 65% and 89% could be explained by unique environmental or stochastic factors in the different sex and age groups. The highest heritability was seen among older twins. In addition, the genetic correlation between MCS and PCS scores was low (0.07 and 0.23 for males and females, respectively) among younger and high (0.26 and 0.45 for males and females, respectively) in the oldest age group. Both the largest genetic influence on HRQL and the largest genetic overlap between the scores were seen in the oldest age group, which consisted of twins older than 55. The unique environmental correlation between MCS and PCS were generally negative. Conclusion: The heritability of HRQL differs between different age groups. In general, most of the variance in the SF-12 summary components was determined by unique environmental factors.Twin Research and Human Genetics 04/2013; · 1.70 Impact Factor -
Article: Modifications of longitudinally extensive transverse myelitis and brainstem lesions in the course of neuromyelitis optica (NMO): A population-based, descriptive study.
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ABSTRACT: BACKGROUND: Neuromyelitis optica (NMO) includes transverse myelitis, optic neuritis and brain lesions. Recent studies have indicated that the brainstem is an important site of attack in NMO. Longitudinally extensive transverse myelitis (LETM) is an important component of the clinical diagnosis of NMO. The frequency of brainstem and LETM lesions, changes over time of LETM and the clinical consequences in the course of NMO have only been sparsely studied. METHODS: The study was a population-based retrospective case series with clinical and magnetic resonance imaging (MRI) follow-up of 35 patients with definite NMO and a relapsing-remitting course. RESULTS: Brainstem lesions were observed in 25 patients, 18 in medulla oblongata (11 in area postrema). Lesions in the pons, mesencephalon and diencephalon occurred in 10, 7 and 7 patients, respectively. Lesions were symptomatic in medulla oblongata and pons, asymptomatic in mesencephalon and diencephalon. Brainstem lesions were observed significantly more often in anti-aquaporin-4 (AQP-4) antibody positive than in seronegative patients (p < 0.002).LETM was demonstrated by MRI of the spinal cord in 30/36 patients, 23/30 of whom had follow-up MRI of the spinal cord. Recurrent LETM was observed in five patients. In nine patients the LETM changed into multiple lesions during remission or treatment. Spinal cord atrophy was observed in 12/23 (52%) patients, correlating to Expanded Disability Status Scale (r = 0.88, p < 0.001). CONCLUSIONS: NMO patients had frequent occurrence of brainstem lesions and LETM. Brainstem lesions were associated with anti-AQP4 antibody positivity. LETM lesions differentiated over time and the outcome included relapses, fragmentation and atrophy. Correlation was observed between spinal cord atrophy and neurological disability.BMC Neurology 04/2013; 13(1):33. · 2.17 Impact Factor -
Article: The Danish Twin Registry: Linking Surveys, National Registers, and Biological Information.
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ABSTRACT: Over the last 60 years, the resources and the research in the Danish Twin Registry (DTR) have periodically been summarized. Here, we give a short overview of the DTR and a more comprehensive description of new developments in the twenty-first century. First, we outline our experience over the last decade of combining questionnaire and survey data with national demographic, social, and health registers in Statistics Denmark. Second, we describe our most recent data collection effort, which was conducted during the period 2008-2011 and included both in-person assessments of 14,000+ twins born 1931-1969 and sampling of biological material, hereby expanding and consolidating the DTR biobank. Third, two examples of intensively studied twin cohorts are given. The new developments in the DTR in the last decade have facilitated the ongoing research and laid the groundwork for new research directions.Twin Research and Human Genetics 10/2012; · 1.70 Impact Factor -
Article: Genome-wide linkage and association scans for pulse pressure in Chinese twins.
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ABSTRACT: Elevated pulse pressure (PP) is associated with cardiovascular disorders and mortality in various populations. The genetic influence on PP has been confirmed by heritability estimates using related individuals. Recently, efforts have been made by mapping genes that are linked to the phenotype. We report the results of our gene mapping studies conducted in the Chinese population in mainland China. The genome-wide linkage and association scans were carried out on 63 middle-aged dizygotic twin pairs using high-density markers. The linkage analysis identified three significant linkage peaks (all with a single point P<1e(-05)) on chromosome 11 (LOD core 4.06 at 30.5 cM), chromosome 12 (LOD score 3.97 at 100.7 cM) and chromosome 18 (LOD score 4.01 at 70.7 cM), with the last two peaks closely overlapping with linkage peaks reported by two American studies. Multiple regions with suggestive linkages were identified, with many of the peaks overlapping with published linkage regions. The genome-wide association analysis detected a suggestive association on chromosome 4 (rs17031508, P<8.34e(-08)) located within a wide region of suggestive linkage. Our results provide some evidence for genetic linkages and associations with PP in the Chinese population. Further investigation is warranted to replicate the findings and to explore the susceptibility loci or genes for PP.Hypertension Research advance online publication, 5 July 2012; doi:10.1038/hr.2012.90.Hypertension Research 07/2012; · 2.58 Impact Factor -
Article: Risk of chronic bronchitis in twin pairs discordant for smoking.
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ABSTRACT: It is well known that smoking is a major risk factor for lung disease and respiratory symptoms. We examined the association between smoking and the risk of chronic bronchitis in a large twin sample. In a population-based questionnaire study of 13,649 twins, aged 50-71 years, from the Danish Twin Registry, we identified 1,146 twin pairs, discordant for a lifetime history smoking. We performed co-twin control analysis to examine the impact of smoking on the risk of chronic bronchitis. The prevalence of chronic bronchitis was 9.7 %. In the total sample, high age, living without a spouse, and smoking remained statistically significant predictors with an up to tenfold increased risk of chronic bronchitis in the heaviest smokers compared with never-smokers, after multivariate adjustment. Among twin pairs discordant for smoking, chronic bronchitis was significantly more common in the smoking twin compared with the nonsmoking co-twin. There was no differential effect of smoking on the risk of chronic bronchitis in monozygotic and dizygotic twins. The risk of chronic bronchitis increases with age and increasing tobacco consumption. The results indicate a direct relationship between smoking and development of chronic bronchitis, but other environmental factors, such as exposure to household smoking in childhood and living without a spouse, also play a role.Beiträge zur Klinik der Tuberkulose 06/2012; 190(5):557-61. · 1.90 Impact Factor
