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- Borén, Jan, 1963, et al.
(författare)
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Effects of pnpla3 i148m on hepatic lipid and very low-density lipoprotein metabolism in humans.
- 2022
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Ingår i: Journal of internal medicine. - : Wiley. - 1365-2796 .- 0954-6820. ; 291:2, s. 218-223
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Tidskriftsartikel (refereegranskat)abstract
- The PNPLA3-148M variant is associated with liver steatosis but its influence on metabolism of triglyceride-rich lipoproteins remains unclear. Here we investigated the kinetics of large, triglyceride-rich VLDL1 and smaller VLDL2 in homozygotes for the PNPLA3-148M variant.The kinetics of apoB100 and triglyceride in VLDL subfractions was analysed in nine subjects homozygous for PNPLA3-148M and nine subjects homozygous for PNPLA3-148I (controls). Liver fat was >3-fold higher in the 148M subjects. Production rates for apoB100 and triglyceride in VLDL1 did not differ significantly between the two groups. Likewise, production rates for VLDL2 -apoB100 and -triglyceride, and fractional clearance rates for both apoB100 and triglyceride in VLDL1 and VLDL2 , were not significantly different.Despite the higher liver fat content in PNPLA3-148M homozygotes, there was no increase in VLDL production. Equally, VLDL production was maintained at normal levels despite the putative impairment in cytosolic lipid hydrolysis in these subjects. This article is protected by copyright. All rights reserved.
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| 2. |
- Widén, Elisabeth, et al.
(författare)
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How Communicating Polygenic and Clinical Risk for Atherosclerotic Cardiovascular Disease Impacts Health Behavior : an Observational Follow-up Study
- 2022
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Ingår i: Circulation: Genomic and Precision Medicine. - 2574-8300. ; 15:2, s. 003459-003459
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Tidskriftsartikel (refereegranskat)abstract
- Background: Prediction tools that combine polygenic risk scores with clinical factors provide a new opportunity for improved prediction and prevention of atherosclerotic cardiovascular disease, but the clinical utility of polygenic risk score has remained unclear. Methods: We collected a prospective cohort of 7342 individuals (64% women, mean age 56 years) and estimated their 10-year risk for atherosclerotic cardiovascular disease both by a traditional risk score and a composite score combining the effect of a polygenic risk score and clinical risk factors. We then tested how returning the personal risk information with an interactive web-tool impacted on the participants' health behavior. Results: When reassessed after 1.5 years by a clinical visit and questionnaires, 20.8% of individuals at high (>10%) 10-year atherosclerotic cardiovascular disease risk had seen a doctor, 12.4% reported weight loss, 14.2% of smokers had quit smoking, and 15.4% had signed up for health coaching online. Altogether, 42.6% of persons at high risk had made one or more health behavioral changes versus 33.5% of persons at low/average risk such that higher baseline risk predicted a favorable change (OR [CI], 1.53 [1.37-1.72] for persons at high risk versus the rest, P<0.001), with both high clinical (P<0.001) and genomic risk (OR [CI], 1.10 [1.03-1.17], P=0.003) contributing independently. Conclusions: Web-based communication of personal atherosclerotic cardiovascular disease risk-data including polygenic risk to middle-aged persons motivates positive changes in health behavior and the propensity to seek care. It supports integration of genomic information into clinical risk calculators as a feasible approach to enhance disease prevention.
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