scholarly journals An LDLR missense variant poses high risk of familial hypercholesterolemia in 30% of Greenlanders and offers potential for early cardiovascular disease intervention

Author(s):  
Emil Jørsboe ◽  
Mette Korre Andersen ◽  
Line Skotte ◽  
Frederik Filip Stæger ◽  
Nils Joakim Kaas Færgeman ◽  
...  

Background: The common Arctic specific LDLR p.G137S variant was recently shown to be associated with elevated lipid levels. Motivated by this we aimed to investigate the effect of p.G137S on metabolic health, and cardiovascular disease risk among Greenlanders to quantify its impact on the population. Methods: In a population based Greenlandic cohort (n=5063), we tested for associations between the p.G137S variant and metabolic health traits as well as cardiovascular disease risk based on registry data. Additionally, we explored the variant's impact on plasma NMR measured lipoprotein concentration and composition in another Greenlandic cohort (n=1629). Results: 29.5% of the individuals in the cohort carried at least one copy of the p.G137S risk allele. Furthermore, 25.4% of the heterozygous and 54.7% of the homozygous carriers had high levels (>4.9 mmol/L) of LDL cholesterol, which is above the diagnostic level for familial hypercholesterolemia (FH). Moreover, p.G137S was associated with an overall atherosclerotic lipid profile, and increased risk of ischaemic heart disease (HR (95% CI), 1.51 (1.18-1.92), P=0.00096), peripheral artery disease (1.69 (1.01-2.82), P=0.046), and coronary operations (1.78 (1.21-2.62), P=0.0035). Conclusions: Due to its high frequency and large effect sizes, p.G137S has a marked population-level impact, increasing the risk of FH and cardiovascular disease for up to 30% of the Greenlandic population. Thus, p.G137S is a potential marker for early intervention in Arctic populations.

BMJ Open ◽  
2019 ◽  
Vol 9 (6) ◽  
pp. e026913 ◽  
Author(s):  
Yon Ho Jee ◽  
Hyoungyoon Chang ◽  
Keum Ji Jung ◽  
Sun Ha Jee

ObjectivesDepression has been reported to be a risk factor of cardiovascular disease in the western world, but the association has not yet been studied among Asian populations. The aim of this study was to investigate whether depression increases the risk of developing atherosclerotic cardiovascular disease (ASCVD) in a large Korean cohort study.DesignPopulation based cohort study.SettingDatabase of National Health Insurance System, Republic of Korea.Participants481 355 Koreans (260 695 men and 220 660 women) aged 40–80 years who had a biennial health check-up between 2002 and 2005.Main outcome measureThe main outcome in this study was the first ASCVD event (hospital admission or death).ResultsDepression increased the risk of developing ASCVD by 41% for men and 48% for women. In men, 3–4 outpatient visits for depression increased the risk of angina pectoris by 2.12 times (95% CI 1.55 to 2.90) and acute myocardial infarction by 2.29 times (95% CI 1.33 to 3.95). Depression was also associated with stroke in men (HR 1.29, 95% CI 1.19 to 1.39) and in women (HR 1.37, 95% CI 1.29 to 1.46). However, no increased risk of ASCVD was found for men who received 10 or more depressive treatments, compared with those without any outpatient visit for depression.ConclusionsIn this cohort, depressed people were at increased risk of ASCVD incidence. Therefore, individuals with depression may need routine monitoring of heart health that may prevent their future CVD risk.


2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Itai M. Magodoro ◽  
Maggie Feng ◽  
Crystal M. North ◽  
Dagmar Vořechovská ◽  
John D. Kraemer ◽  
...  

2020 ◽  
Vol 105 (12) ◽  
pp. e4304-e4327 ◽  
Author(s):  
Xiaoming Jia ◽  
Caroline Sun ◽  
Olive Tang ◽  
Ivan Gorlov ◽  
Vijay Nambi ◽  
...  

Abstract Context Lower dehydroepiandrosterone-sulfate (DHEA-S) levels have been inconsistently associated with coronary heart disease (CHD) and mortality. Data are limited for heart failure (HF) and association between DHEA-S change and events. Objective Assess associations between low DHEA-S/DHEA-S change and incident HF hospitalization, CHD, and mortality in older adults. Design DHEA-S was measured in stored plasma from visits 4 (1996-1998) and 5 (2011-2013) of the Atherosclerosis Risk in Communities study. Follow-up for incident events: 18 years for DHEA-S level; 5.5 years for DHEA-S change. Setting General community. Participants Individuals without prevalent cardiovascular disease (n = 8143, mean age 63 years). Main Outcome Measure Associations between DHEA-S and incident HF hospitalization, CHD, or mortality; associations between 15-year change in DHEA-S (n = 3706) and cardiovascular events. Results DHEA-S below the 15th sex-specific percentile of the study population (men: 55.4 µg/dL; women: 27.4 µg/dL) was associated with increased HF hospitalization (men: hazard ratio [HR] 1.30, 95% confidence interval [CI], 1.07-1.58; women: HR 1.42, 95% CI, 1.13-1.79); DHEA-S below the 25th sex-specific percentile (men: 70.0 µg/dL; women: 37.1 µg/dL) was associated with increased death (men: HR 1.12, 95% CI, 1.01-1.25; women: HR 1.19, 95% CI, 1.03-1.37). In men, but not women, greater percentage decrease in DHEA-S was associated with increased HF hospitalization (HR 1.94, 95% CI, 1.11-3.39). Low DHEA-S and change in DHEA-S were not associated with incident CHD. Conclusions Low DHEA-S is associated with increased risk for HF and mortality but not CHD. Further investigation is warranted to evaluate mechanisms underlying these associations.


Molecules ◽  
2020 ◽  
Vol 25 (7) ◽  
pp. 1653
Author(s):  
Sze Wa Chan ◽  
Brian Tomlinson

Metabolic syndrome is a cluster of interrelated conditions that is associated with an increased risk of cardiovascular disease (CVD) and type 2 diabetes mellitus (T2DM). Oxidative stress may impair normal physiological functions, leading to various illnesses. T2DM is considered to be associated with increased oxidative stress, inflammation, and dyslipidemia, which may play a significant role in the development of cardiovascular complications, cancer and vision loss through cataracts and retinopathy. While conventional therapies are a cornerstone for the management of the major risk factors of metabolic syndrome, increasing antioxidant defense by increasing intake of antioxidant-rich foods may improve long term prospects in CVD, obesity and T2DM. Bilberry (Vaccinium myrtillus L.) is one of the richest natural sources of anthocyanins which give berries their red/purple/blue coloration. Anthocyanins are powerful antioxidants and are reported to play an important role in the prevention of metabolic disease and CVD as well as cancer and other conditions. This review focuses on the potential effects of bilberry supplementation on metabolic and cardiovascular risk factors. Although there is evidence to support the use of bilberry supplementation as part of a healthy diet, the potential benefits from the use of bilberry supplementation in patients with T2DM or CVD needs to be clarified in large clinical trials.


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