Abstract
Recent studies have led to considerable advances in the identification of genetic variants associated with type 1 and type 2 diabetes. An approach for converting genetic data into a predictive measure of disease susceptibility is to add the risk effects of loci into a polygenic risk score. In order to summarize the recent findings, we conducted a systematic review of studies comparing the accuracy of polygenic risk scores developed during the last two decades. We selected 15 risk scores from three databases (Scopus, Web of Science and PubMed) enrolled in this systematic review. We identified three polygenic risk scores that discriminate between type 1 diabetes patients and healthy people, one that discriminate between type 1 and type 2 diabetes, two that discriminate between type 1 and monogenic diabetes and nine polygenic risk scores that discriminate between type 2 diabetes patients and healthy people. Prediction accuracy of polygenic risk scores was assessed by comparing the area under the curve. The actual benefits, potential obstacles and possible solutions for the implementation of polygenic risk scores in clinical practice were also discussed. Develop strategies to establish the clinical validity of polygenic risk scores by creating a framework for the interpretation of findings and their translation into actual evidence, are the way to demonstrate their utility in medical practice.
Highlights
Diabetes mellitus is a complex and heterogeneous group of chronic metabolic diseases characterized by hyperglycemia, recognized as one of the most important public health challenges of the 21st century [1]
The genetic risk score (GRS) for Asian-American was highly discriminant with an Area under the Curve (AUC) of 0.92, and the analysis indicated that this polygenic risk score (PRS) could discriminate Type 1 diabetes (T1D) subjects from controls in a small cohort for subjects of Asian-American, but larger studies are required to validate and extend these findings
PRSs are powerful tools to support diagnosis; they are consistent throughout life, and they could be an effective tool to determine whether a particular patient has T1D, Type 2 diabetes (T2D) or one of the other forms of diabetes
Summary
Diabetes mellitus is a complex and heterogeneous group of chronic metabolic diseases characterized by hyperglycemia, recognized as one of the most important public health challenges of the 21st century [1]. Type 2 diabetes (T2D) is a progressive metabolic disease characterized by insulin resistance [4] and eventual functional failure of pancreatic beta cells [5,6]. Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes showing autosomal dominant mode of inheritance. It accounts for 1%–5% of all the diabetic forms of the young and is characterized by anomalous pancreatic beta-cell activity [7,8,9]
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