Overcoming the binary of sex in genetic studies (M08)

• Subject Area: Human Genetics ; Bioinformatics and Theoretical Biology ; Cardiology, Angiology
• Term: since 2024
• Project identifier: Deutsche Forschungsgemeinschaft (DFG) - Project number 515637292

The aim of this project is to explore the scientific idea that sex should be viewed as a spectrum rather than a binary concept, with XX-female and XY-male being the extremes. The project will use a hormone-based quantitative trait score for sex stratification in genome-wide association studies (GWAS) to enhance the likelihood of identifying sex-specific genetic risk factors for coronary artery disease (CAD). They will also stratify approximately 500 of the 2,500 available DNA samples of 46, XY DSD in the research laboratory of UzL according to phenotype and aim to identify genetic loci associated with DSD and characterise the genetic architecture, including potential polygenic components.

• DFG Programme: Collaborative Research Centres
• Subproject of: SFB 1665: Sexdiversity - Determinants, meanings and implications of sex diversity in sociocultural, medical and biological landscapes
• Applicant Institution: Universität zu Lübeck
• Project Head: Dr. Redouane Aherrahrou, Ph.D.