Name & Department:
Luis Felipe Padilla Martinez
Clinical Research Centre
Public PhD Defence date:
14/Dec/2022
Doctoral Thesis title:
The use of polygenic risk scores for type 2 diabetes in prediction of metabolic changes
Supervisor/s:
Prof. dr hab. n. med. Adam Jacek Kretowski,
Reviewers:
- prof. dr hab. n. med. Grzegorz Dzida Katedra i Klinika Chorób Wewnętrznych Uniwersytet Medyczny w Lublinie
- prof. dr hab. n. med. Edward Franek Kliniki Chorób Wewnętrznych Endokrynologii i Diabetologii Centralnego Szpitala Klinicznego MSWiA w Warszawie
- prof. dr hab. n. med. Roman Junik Katedra Endokrynologii i Diabetologii Collegium Medicum w Bydgoszczy Uniwersytet Mikołaja Kopernika w Toruniu
Current affiliation:
Post-doctoral Research and Technical Specialist at the Laboratory of DNA Segregation and Life Cycle of Proteobacteria, Institute of Biochemistry and Biophysics- Polish Academy of Sciences
Plans for the Future:
I will like to share my knowledge, and be able to expand and apply my research in a clinical environment. Developing myself on the areas of Bioinformatics, biostatistics and data analysis.
Abstract (max 1000 characters with spaces):
Prediabetes is an intermediate state of hyperglycemia during which glycemic parameters are above normal levels but below the T2D threshold. The main objective was to create and compare two polygenic risk scores (PRSs) versus changes over time (Δ) in metabolic parameters related to prediabetes. The genetics of 446 prediabetic patients from the PolRed cohort were investigated. 17 metabolic parameters were measured and compared at baseline and after 5 years using statistical analysis. Genetic polymorphisms present in patients were determined to build a T2D PRS (68 SNPs) and an obesity PRS (21 SNPs). Finally, the association among the 2 PRSs and the Δ of the metabolic traits was assessed. After a multiple linear regression at a nominal significance of (p < 0.05) and adjustment for multiple testing, the T2D PRS was found to be positively associated with Δ fat mass (FM) (p = 0.025). The obesity PRS was positively associated with Δ FM (p = 0.023) and Δ 2 h glucose (p = 0.034). The comparison of genotype frequencies showed that AA genotype carriers of rs10838738 were significantly higher in Δ 2 h glucose and in Δ 2 h insulin. The associations found in this research could be a powerful tool for identifying prediabetic individuals with an increased risk of developing T2D and obesity.