Albert Chiou, MD
Stanford University School of Medicine
Department of Dermatology
Redwood City, CA
2018 Clinical Research Grant Recipient
Prospective Validation of Rosacea Genetic Risk Factors
Abstract
Rosacea is a common, chronic skin disease that can have severe negative impacts on patients’ quality of life. Although a number of environmental factors influence rosacea, the genetic basis of the condition is not well defined. Recently, a genome-wide association study utilizing a discovery group of 22,952 individuals (2,618 rosacea cases and 20,334 controls) and a confirmation group of 29,481 individuals (3,205 rosacea cases and 26,262 controls) identified and confirmed the association of the single nucleotide polymorphism (SNP) rs763035 (p=8.0×10-11 discovery group; p=0.00031 replication group) with rosacea. In addition, three HLA alleles were similarly identified and confirmed to associate with rosacea. While promising, this study was retrospective in nature and relied upon self-reported phenotyping of rosacea. We propose to study the association of SNP rs763035 and the three rosacea-associated HLA alleles by prospective recruitment of individuals with dermatologist-verified papulopustular rosacea. Potential validation of any of these genetic variants of interest may provide insights into the mechanistic basis of rosacea. This prospective cohort will also serve as the basis of a Rosacea Translational Registry for future studies, particularly those involving identification of associated co-morbidities. This study will aim to enroll 300 individuals, 150 with rosacea, as verified by a dermatologist, and 150 without. We will perform targeted assessment of rs763035 and HLA alleles of interest, and clinical histories will be taken to assess for co-morbidities. We anticipate this study will help to elucidate the genetic basis of rosacea, which in turn may ultimately help inform future treatments for the condition.