Abstract:

Objective The study of pharmacogenomics focused on how mutations of essential enzyme genes would lead to different drug response. It would be of great importance to identify warfarin-response-related variants of the patients before clinical treatment, especially for pediatrics.Methods In this study, the allele frequencies of reported clinically significant warfarin-response-related variants were evaluated based on 620 WES data collected from Children Hospital of Fudan University. Then the local allele frequencies were compared with public population-based databases, including 1000 Genomes project.Results 27 warfarin-response-related variants that have clinical significance were detected in the 620 WES data that we used. These variants were distributed in 12 genes. There were 27 warfarin-related variants, and the frequency of 3 variants in our data showed no difference with European and East Asian population of 1000 Genome project（P≥0.01）, 10 of them showed no difference with East Asian （P≥0.01） but were significantly different from European population （P<0.01）, 1 variant showed no difference with European and different fromh East Asian（P≥0.01）, and 13 variants were different from both population frequency data（P<0.01）.Conclusion Warfarin-response-related variants detected in our database also show population-specificity, which indicates that sufficient genome-wide data preparation are necessary for the personized drug usage and the practice of precise medicine.