275 In-progress validation of candidate rosacea genes by targeted interrogation of alleles and assessment of rosacea comorbidities

A. Kumar, Y. Shih, A. Chiou, S. Li, A.L. Chang

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Rosacea is a chronic inflammatory facial condition. Current treatments vary in efficacy, reflecting ambiguity regarding rosacea’s etiopathogenesis. Only recently have large scale genetic studies been performed in rosacea, despite known demographic associations and familial predispositions. Ten rosacea-associated single nucleotide polymorphisms (SNPs) have thus far been identified by genome wide association studies (GWAS). However, those GWAS were limited by use of patient self-reported rosacea diagnoses and allele imputation. Thus, we sought to validate the associated SNPs in a prospective cohort of dermatologist-verified rosacea cases and controls using targeted SNP sequencing, along with a secondary validation of published rosacea comorbidities. 306 participants with European ancestry (155 rosacea cases, 151 controls) were enrolled. Demographic and comorbidities data were collected via questionnaire, and DNA was provided via buccal swab. Comorbidities were assessed via conditional logistical regression for age matched pairs (n=83), adjusted for gender. Following DNA extraction and genotyping via commercial primers (6 SNPs), difference in frequency of SNPs between rosacea cases (n=136) and controls (n=150) was assessed. We found significantly increased (p0.05). Additional recruitment of rosacea cases and controls may be needed to achieve sufficient power to demonstrate statistical significance. Furthermore, non-commercially catalogued rosacea-associated SNPs remain to be genotyped in our samples.
Original languageUndefined/Unknown
Pages (from-to)S33
JournalJournal of Investigative Dermatology
Issue number7, Supplement
Publication statusPublished - 2020
Externally publishedYes

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