[Current status of genome-wide association study]

Area of Science:

• Genetics
• Genomics
• Human Genetics

Context:

• Genome-wide association studies (GWAS) have emerged as a key methodology in genetic research over the past five years.
• Numerous studies have utilized GWAS to investigate the genetic underpinnings of a wide spectrum of complex diseases and traits.
• Significant advancements have been made in understanding the genetic basis of conditions including cancer, diabetes, heart disease, and psychiatric disorders.

Purpose:

• To provide a comprehensive overview of the application and achievements of genome-wide association studies (GWAS) in complex diseases and traits.
• To summarize the key findings and genetic variants identified through GWAS up to September 2010.
• To highlight the utility of GWAS as an efficient study design for genetic research.

Summary:

• GWAS have successfully identified over 3000 disease- and trait-associated variants across nearly 200 complex conditions and traits.
• The review covers applications of GWAS in diverse fields such as oncology, cardiology, diabetes, psychiatric disorders, autoimmune diseases, and anthropometric traits (height, weight, blood lipids, pigmentation).
• The study design has proven effective and efficient in uncovering genetic associations.

Impact:

• GWAS have revolutionized the identification of genetic variants contributing to complex diseases and traits.
• The findings underscore the potential of genetic research to advance our understanding of human health and disease.
• This approach facilitates the discovery of novel biological pathways and potential therapeutic targets.