Genetics of CHD in 2016: Common and rare genetic variants and risk of CHD

@article{Swerdlow2017GeneticsOC,
  title={Genetics of CHD in 2016: Common and rare genetic variants and risk of CHD},
  author={Daniel I Swerdlow and Steve E. Humphries},
  journal={Nature Reviews Cardiology},
  year={2017},
  volume={14},
  pages={73-74}
}
Much of the progress in cardiovascular genetics in 2016 has been driven by next-generation sequencing studies, and the clinical utility of knowing an individual's genotype for predicting their risk of cardiovascular disease is gaining credibility, both for monogenic and polygenic disorders. Additionally, phenotype data are increasingly abundant, although databases linking genotype with clinically relevant phenotypes require optimization. 

The Genetics of Ischemic Heart Disease: From Current Knowledge to Clinical Implications.

Exome sequencing reveals novel IRXI mutation in congenital heart disease.

TLDR
The results demonstrated that NGS is a powerful tool to study the etiology ofCHD and suggest that genetic variants of the IRX1 gene may contribute to the pathogenesis of CHD.

Molecular aspects of hypercholesterolemia treatment: current perspectives and hopes

TLDR
The molecular aspects of current and novel therapeutic approaches based on low-density lipoprotein cholesterol lowering strategies and the most common genes involved in hypercholesterolemia are LDLR, PCSK9 and ApoB are reviewed.

Human muscle-specific A-kinase anchoring protein polymorphisms modulate the susceptibility to cardiovascular diseases by altering cAMP/PKA signaling.

TLDR
Human mAKAP polymorphisms may influence the propensity of developing CVDs by affecting cAMP/PKA signaling, supporting the clinical significance of PKA-mAKAP-PDE4D3 interactions.

Myocardial bridge-related coronary heart disease: Independent influencing factors and their predicting value

TLDR
MB thickness, systolic compression, diastolic compression of the MCA, and MCA syStolic stenosis rate are independent influencing factors for MB-related CHD and the combination of these factors has potential diagnostic value forMB-relatedCHD.

Multi-arrhythmias detection with an XML rule-based system from 12-Lead Electrocardiogram

TLDR
The RBS improves an exceptional recognition of arrhythias, but due to conflicts between rules, multi-arrhythmias and uncertainty of measures, the rate of correct classification was less than the other methods.

References

SHOWING 1-10 OF 10 REFERENCES

Mutations causative of familial hypercholesterolaemia: screening of 98 098 individuals from the Copenhagen General Population Study estimated a prevalence of 1 in 217.

TLDR
Familial hypercholesterolaemia-causing mutations are estimated to occur in 1:217 in the general population and are best identified by a definite or probable phenotypic diagnosis of FH based on the DLCN criteria or an LDL-cholesterol above 4.4 mmol/L.

Genetic Risk, Adherence to a Healthy Lifestyle, and Coronary Disease.

TLDR
Among participants at high genetic risk, a favorable lifestyle was associated with a nearly 50% lower relative risk of coronary artery disease than was an unfavorable lifestyle, and across four studies involving 55,685 participants, genetic and lifestyle factors were independently associated with susceptibility to coronary arteries disease.

Titin truncating variants affect heart function in disease cohorts and the general population

TLDR
Data show that TTNtv have molecular and physiological effects on the heart across species, with a continuum of expressivity in health and disease, and are associated with eccentric cardiac remodeling in healthy humans.

Inactivating mutations in NPC1L1 and protection from coronary heart disease.

BACKGROUND Ezetimibe lowers plasma levels of low-density lipoprotein (LDL) cholesterol by inhibiting the activity of the Niemann-Pick C1-like 1 (NPC1L1) protein. However, whether such inhibition

Association of Lipid Fractions With Risks for Coronary Artery Disease and Diabetes.

TLDR
Routinely measured lipid fractions exhibit contrasting associations with the risk of CAD and diabetes, and all 3 lipid traits were associated with a lower risk of type 2 diabetes.

Child-Parent Familial Hypercholesterolemia Screening in Primary Care.

TLDR
Child-parent screening was feasible in primary care practices at routine child immunization visits and 8 persons were identified as having positive screening results for familial hypercholesterolemia and were consequently at high risk for cardiovascular disease.