Systematic review of genetic risk score in coronary heart disease and other diseases

Jia Sun, The University of Texas School of Public Health

Abstract

In order to better take advantage of the abundant results from large-scale genomic association studies, investigators are turning to a genetic risk score (GRS) method in order to combine the information from common modest-effect risk alleles into an efficient risk assessment statistic. The statistical properties of these GRSs are poorly understood. As a first step toward a better understanding of GRSs, a systematic analysis of recent investigations using a GRS was undertaken. GRS studies were searched in the areas of coronary heart disease (CHD), cancer, and other common diseases using bibliographic databases and by hand-searching reference lists and journals. Twenty-one independent case-control studies, cohort studies, and simulation studies (12 in CHD, 9 in other diseases) were identified. The underlying statistical assumptions of the GRS using the experience of the Framingham risk score were investigated. Improvements in the construction of a GRS guided by the concept of composite indicators are discussed. The GRS will be a promising risk assessment tool to improve prediction and diagnosis of common diseases.

Subject Area

Biostatistics|Genetics|Epidemiology

Recommended Citation

Sun, Jia, "Systematic review of genetic risk score in coronary heart disease and other diseases" (2009). Texas Medical Center Dissertations (via ProQuest). AAI1467317.
https://digitalcommons.library.tmc.edu/dissertations/AAI1467317

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