Modifier genes and variation in cystic fibrosis

Area of Science:

• Genetics
• Molecular Biology
• Disease Susceptibility

Background:

• Molecular tools enable genotyping, driving gene-disease association studies.
• Human studies often have limited sample sizes, hindering whole-genome approaches.
• Candidate gene strategies are prevalent, mirroring clinical association study designs.

Purpose of the Study:

• To review the role and increasing prevalence of candidate gene association studies in disease research.
• To highlight the potential of exploring untapped pathways in diseases like cystic fibrosis.
• To emphasize the importance of strategic gene and phenotype selection in association studies.

Main Methods:

• Review of current trends in genetic association studies.
• Analysis of candidate gene strategies in the context of limited human subject availability.
• Discussion of potential future approaches like genome scanning.

Main Results:

• Candidate gene studies have yielded promising results in cystic fibrosis, particularly in infection and inflammation pathways.
• Numerous relevant pathways for cystic fibrosis remain unexplored by current genetic studies.
• The number of candidate gene association studies is expected to increase with advancements in genomic resources.

Conclusions:

• Careful consideration of gene and phenotype is essential for the meaningful interpretation of candidate gene association studies.
• Genome scanning may uncover novel genes relevant to cystic fibrosis.
• Further research should explore a broader range of pathways and utilize advanced genomic techniques.