Project name: 青岛西海岸新区婴幼儿基因组学与分子流行病学研究之药物基因组学

Description: For decades, researchers have been studying genetic variation and its impact on drug response and efficacy. Despite this, threr is still a lack of information on how common and rare pharmacogenetic (PGx) variants affect medication in the Chiinese population, particularity for newborns. Here, we used high-depth whole genome sequencing (WGS) data of 6,442 nono-related infants from Qingdao, China, to establish a comprehensive PGx database in Han Chinese population, named "QDnewborn Cohort PGx dataset". In total, we identified 593,206 SNPs and InDels from 257 pharmacogenes, of which 49.49% were novel and 91.22% were rare variants (MAF<0.01). Additionally, we investigated therapeutic PGx variations and drug dosage influence in the cohort from individual tp population level regarding 58 drugs from CPIC level A guideline and the latest Chinese National Reimbursement Drug List. Of note, 27 of selected drugs were associated with dosage adjustment and/or ARDs which at least affecting over 10% of newborns, suggesting a potentially clinical impacts of pre-emptive PGx profiling. To our knowledge, this study is the largest by far to systematically explore the genetic diversity of PGx variation in Northern Han Chinese. The web-based database offers a significant resource for future pharmacogenetic genotype analyses, including common, known, and rare functional variants, to develop personalized medication strategies.

Data type: Variation

Sample scope: Multiisolate

Relevance: Medical

Release date: 2023-12-31

Last updated: 2023-12-31