Genetic Basis of Rosacea

Study Overview
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Brief Summary
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Rosacea is a common disease characterized by inflammation and vascular abnormalities of the facial skin and ocular surface. The exact pathogenesis of papulopustular rosacea is not well understood and current methods to treat this disease are often unsatisfactory. The purpose of this study is to develop gene expression profiles of papulopustular rosacea compared to those of normal skin. The investigators hope to better understand the abnormal gene functions that might contribute to this condition. This understanding may lead to the development of additional and better treatments for rosacea.

Official Title
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Validation of Candidate Rosacea Genes By Targeted Interrogation of Alleles and Assessment of Rosacea Co-morbidities

Conditions
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Rosacea

Intervention / Treatment
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* Genetic: buccal swab


Participation Criteria
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Eligibility Criteria
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Eligibility Criteria for Rosacea Group: Inclusion criteria for rosacea participants: Clinical signs and symptoms of rosacea (papulopustular or erythrotelangiectatic subtypes) present at enrollment as determined by the investigator All four grandparents of European descent Fitzpatrick skin type I or II Age 18 years or older Exclusion criteria for rosacea participants: Unable or unwilling to provide written informed consent Concomitant facial or medical condition that obscures diagnosis of rosacea (such as malar erythema from lupus erythematosus) Acne vulgaris Unable or unwilling to provide peripheral blood sample (a few teaspoons) Inability for investigator to verify rosacea diagnosis on clinical examination due to rosacea treatment(s) leading to complete lack of signs and symptoms (such prior laser treatments, systemic tetracycline usage, etc.) Use of topical prescription medications or procedures to the face within one month of enrollment Women who are pregnant or lactating Eligibility Criteria for Non-Rosacea Group: Inclusion criteria for control participants: No history of rosacea No clinical signs or symptoms of rosacea No family history of rosacea All four grandparents of European descent Fitzpatrick skin type I or II Age 18 years or older Exclusion criteria for control participants: Unable or unwilling to provide written informed consent Acne vulgaris Unable or unwilling to provide peripheral blood sample (a few teaspoons) Women who are pregnant or lactating Use of topical prescription medications or procedures to the face within one month of enrollment Skin conditions that might interfere with interpretation of procedure results (at the discretion of the investigator)

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Rosacea Group<br> | Genetic: buccal swab<br>* cheek swab for DNA sampling<br>|
| Non-Rosacea Group<br> | Genetic: buccal swab<br>* cheek swab for DNA sampling<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Targeted interrogation of alleles and assessment of rosacea co-morbidities. |  | Up to 2 years |