Among the most prevalent pathologies that afflict human...

Among the most prevalent pathologies that afflict human beings is heart disease, which can have a severe impact on quality of life and can even result in premature death. While heart disease mostly afflicts those who are older, $1 \%$ or $2 \%$ of people in their 30 s, and even in their $20 \mathrm{s},$ suffer from this disease. Genetic and environmental components of this disease exist. What strategy might you use to choose families to participate in a GWAS of heart disease-causing genes? Explain your reasoning.

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Key Concepts

Genome-wide Association Studies (GWAS)

GWAS are research approaches used to identify genetic variants across the entire genome that may contribute to a particular disease or trait. They involve scanning markers across many individuals to find genetic differences between those with a disease and those without, thereby uncovering associations that can lead to insights into disease mechanisms.

Family-Based Study Designs

Family-based study designs focus on recruiting families with a history of a disease, which can increase the likelihood of discovering inherited genetic factors. By studying families with multiple affected members, especially those with early onset, researchers can more effectively investigate genetic contributions and reduce confounding factors such as ethnic stratification.

Phenotype Enrichment and Extreme Trait Sampling

This strategy involves selecting families that show an extreme or enriched disease phenotype, such as early-onset cases or multiple affected individuals within a single family. Enriching the sample for the phenotype increases the power to detect genetic variants of interest, as the genetic signal is likely stronger among participants who express the trait more severely or rapidly.

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