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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
Adaptive genetic variation and heart disease risk
Laurence D Parnell1, Yu-Chi Lee, Chao-Qiang Lai
1Nutrition and Genomics Laboratory, JM-USDA Human Nutrition Research Center on Aging at Tufts University, Boston, Massachusetts, USA.
Current Opinion in Lipidology
|February 16, 2010
Summary
Genetic variants under positive selection significantly contribute to obesity and cardiovascular disease risk. Understanding gene-environment interactions is key to characterizing these conditions and improving genome-wide association studies.
Area of Science:
- Genetics
- Environmental Health
- Cardiovascular Disease
Background:
- Obesity, dyslipidemia, and cardiovascular disease result from complex genetic and environmental interactions.
- Genome-wide association studies (GWAS) have identified numerous polymorphisms linked to lipid and obesity phenotypes, yet these explain only a small portion of variation.
Purpose of the Study:
- To investigate the role of genetic variants under positive selection in obesity and cardiovascular disease.
- To explore the interplay between genetic adaptation, environmental factors, and disease susceptibility.
Main Methods:
- Analysis of genotype-phenotype associations, focusing on variants under positive selection.
- Review of existing literature on genetic variants, environmental cues, and their impact on metabolic and cardiovascular health.
Main Results:
- A significant proportion of genotype-phenotype associations involve variants under positive selection that respond to environmental cues.
- Adaptive genetic variations interact with the environment to modulate disease susceptibility, though the precise mechanisms and extent are not fully understood.
Conclusions:
- Genetic variants under positive selection play a crucial role in obesity and heart disease risk.
- Advancements in whole-genome resequencing will facilitate the identification of adaptive variants.
- Integrating gene-environment interactions into GWAS will enhance our understanding of positive selection's role in obesity and dyslipidemia.
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