The Genetic Foundations and Factors of Raynaud's Phenomenon

Raynaud’s phenomenon (RP) is a disorder of the small arteries and arterioles that leads to episodic circulatory disturbances, typically triggered by cold exposure or emotional stress. The underlying pathophysiology is not fully understood, and treatment options remain limited. This thesis investigated RP by conducting a genome-wide association study (GWAS) in the UK Biobank cohort, comprising 444,441 participants. In a comprehensive analysis including 5,147 RP cases, two novel genetic loci significantly associated with RP were identified, highlighting potential genes involved in the pathophysiology of the condition.