Dataset Information

Severe hypertriglyceridemia in Norway: prevalence, clinical and genetic characteristics.

ABSTRACT: There is a lack of comprehensive patient-datasets regarding prevalence of severe hypertriglyceridemia (sHTG; triglycerides ?10 mmol/L), frequency of co-morbidities, gene mutations, and gene characterization in sHTG. Using large surveys combined with detailed analysis of sub-cohorts of sHTG patients, we here sought to address these issues.We used data from several large Norwegian surveys that included 681,990 subjects, to estimate the prevalence. Sixty-five sHTG patients were investigated to obtain clinical profiles and candidate disease genes. We obtained peripheral blood mononuclear cells (PBMC) from six male patients and nine healthy controls and examined expression of mRNAs involved in lipid metabolism.The prevalence of sHTG was 0.13 (95% CI 0.12-0.14)%, and highest in men aged 40-49 years and in women 60-69 years. Among the 65 sHTG patients, a possible genetic cause was found in four and 11 had experienced acute pancreatitis. The mRNA expression levels of carnitine palmitoyltransferase (CPT)-1A, CPT2, and hormone-sensitive lipase, were significantly higher in patients compared to controls, whereas those of ATP-binding cassette, sub-family G, member 1 were significantly lower.In Norway, sHTG is present in 0.1%, carries considerable co-morbidity and is associated with an imbalance of genes involved in lipid metabolism, all potentially contributing to increased cardiovascular morbidity in sHTG.

SUBMITTER: Retterstol K

PROVIDER: S-EPMC5469061 | biostudies-literature | 2017 Jun

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Severe hypertriglyceridemia in Norway: prevalence, clinical and genetic characteristics.

Retterstøl Kjetil K Narverud Ingunn I Selmer Randi R Berge Knut E KE Osnes Ingvild V IV Ulven Stine M SM Halvorsen Bente B Aukrust Pål P Holven Kirsten B KB Iversen Per O PO

Lipids in health and disease 20170612 1

<h4>Background</h4>There is a lack of comprehensive patient-datasets regarding prevalence of severe hypertriglyceridemia (sHTG; triglycerides ≥10 mmol/L), frequency of co-morbidities, gene mutations, and gene characterization in sHTG. Using large surveys combined with detailed analysis of sub-cohorts of sHTG patients, we here sought to address these issues.<h4>Methods</h4>We used data from several large Norwegian surveys that included 681,990 subjects, to estimate the prevalence. Sixty-five sHTG ...[more]

PMID: 28606150

Similar Datasets

Project description:IntroductionThe aim was to investigate the risk, prevalence, and clinical characteristics of cerebral palsy among children born after assisted reproductive technology (ART) in Norway.Material and methodsAll liveborn children from 2002 to 2015 were included. Information was collected from the Medical Birth Registry of Norway, linked to the Norwegian Quality and Surveillance Registry for Cerebral Palsy as of December 31, 2022. Logistic regression analyses were used to calculate the prevalence of cerebral palsy per 1000 live births after ART and natural conception with birth year as covariate, crude odds ratios (OR) for cerebral palsy among children born after ART using children born after natural conception as reference, and OR adjusted for potential confounders, with 95% confidence intervals (CI). Potential mediators of the association were studied in stratified analyses. Descriptive statistics were used to compare proportions in clinical characteristics among children with cerebral palsy born after ART and natural conception.ResultsAmong 833 645 livebirths, 23 645 children were born after ART and of the latter 97 were diagnosed with cerebral palsy. The overall prevalence of cerebral palsy after ART was 4.10 per 1000 live births (95% CI 3.36-5.00), decreasing from 7.79 per 1000 in 2002 to 3.55 in 2015. Compared with children born after natural conception, the OR for cerebral palsy was 2.01 (95% CI 1.63-2.47) adjusted for mother's age at birth, parity, and pre-pregnancy health. When restricted to singletons born at term, the adjusted OR for cerebral palsy was 1.13 (95% CI 0.76-1.69). The distribution of cerebral palsy subtypes and the severity of gross and fine motor function and associated impairments did not differ significantly between children with cerebral palsy born after ART and natural conception.ConclusionsChildren born after ART had a risk of cerebral palsy that was twice that of children born after natural conception. The increased risk of cerebral palsy after ART is likely attributed to multiple pregnancies and preterm births. The prevalence of cerebral palsy after ART decreased significantly during the study period, despite an increased use of ART in the population. The distribution of clinical characteristics did not differ between children with cerebral palsy born after ART and those born after a natural conception, suggesting that the risk factors for, and causes of cerebral palsy were similar.

Project description:Objective : Our study aims to summarize and analyze the clinical characteristics of transient infantile hypertriglyceridemia (HTGTI) and variants in the glycerol-3-phosphate dehydrogenase 1 (GPD1) gene and the effect of HTGTI on the protein structure of GPD1. Methods: Retrospective analysis, using the general data, symptoms, signs, and auxiliary examinations, was performed on patients with HTGTI, which were confirmed by genetic testing in our hospital and reported cases online. The clinical data were analyzed using statistical and bioinformatic approaches. Results: A total of 31 genetically confirmed HTGTI patients were collected from our hospital and cases reported in the literature. The clinical manifestations showed the median age of onset was 6.0 (1.9, 12.0) months. All the patients had normal psychiatric status, but 22.6% of them presented growth retardation and short stature, 93.5% had hepatomegaly, and 16.1% had splenomegaly. Just a few children were reported with jaundice, cholestasis, and obesity (3.2-6.5%). The laboratory investigations showed that 96.8% of them had hypertriglyceridemia (HTG) with a median level of 3.1 (2.1, 5.5) mmol/L, but only 30.0% had returned to normal during follow-up. In addition, 93.5% of patients had elevated alanine aminotransferase (ALT) with an average level of 92.1 ± 43.5 U/L, while 38.7% had hypercholesterolemia. Upon abdominal imaging, all patients presented fatty liver and liver steatosis, with 66.7% of patients showing hepatic fibrosis. Statistical differences in triglyceride (TG) level were observed in the ≤6 months group compared with the older groups and in the 13 months to 6 years group with >6 years group (H = 22.02, P < 0.05). The restricted cubic spline model showed that severe HTG decreased in the early stage of infants to the normal level; however, it rebounded again to a mild or moderate level after the following days. The genetic test revealed that the main variant types of the GPD1 gene were missense variants (51.6%), followed by splicing variants (35.5%) and nonsense variants (12.9%). Of patients, 87.1% had homozygous variants, with the most frequent loci being c.361-1G > C and c.895G > A. Conclusion: The common manifestations of HTGTI were HTG, hepatomegaly, elevated liver transaminases, and hepatic steatosis in early infancy. However, the recurrence of aberrant HTG may pose long-term detrimental effects on HTGTI patients.

Dataset Information

Severe hypertriglyceridemia in Norway: prevalence, clinical and genetic characteristics.

Publications

Severe hypertriglyceridemia in Norway: prevalence, clinical and genetic characteristics.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets