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The study, Investigation of Filaggrin Gene Mutations among Latinx patients with Atopic Dermatitis, will examine the association between pathogenic FLG LOF variants and AD in a new population of Latinx patients for which clinical and disease characteristics will be well-described.
Filaggrin deficiency is considered a major target for therapy in Atopic Dermatitis (AD).43 The current status quo with regards to FLG LOF mutations as the strongest known genetic risk factor in AD stems from incomplete data as the majority of studies that have previously examined this association have been carried out in only a limited group of populations (i.e., European ancestry).30 Such partial data impedes our full understanding of genetic risk in AD and consequently has implications for disease prognosis and management. The proposed research represents an attempt to examine long-held paradigms in AD as they relate to genetic risk factors and disease. The development of an independent cohort of Latinx subjects with physician-confirmed diagnosis of AD that is also well phenotyped and grouped by ancestry, while also capturing measures of disease severity, will provide the opportunity to examine a population that has been largely absent from prior studies and further advance our understanding of the pathogenomic role FLG LOF variants in AD.
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| Measure | Description | Time Frame |
|---|---|---|
| To identify and describe Filaggrin (FLG) loss of function (LOF) variants in the GAD-L cohort using a high-throughput PCR approach that incorporates Fluidigm microfluidics technology and next-generation sequencing (NGS) to sequence the entire FLG gene. | 2 year data/sample collection period - cross-sectional cohort study of patients with a diagnosis of atopic dermatitis |
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| Measure | Description | Time Frame |
|---|---|---|
| To examine the correlation between loss of function (LOF) Filaggrin (FLG) mutations and disease onset and severity among Latinx patients with atopic dermatitis (AD). | 2 year data/sample collection period - cross-sectional cohort study of patients with a diagnosis of atopic dermatitis |
Inclusion Criteria:
Exclusion Criteria:
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Participants who self-identify as Latino/Latinx or Hispanic ethnicity and who have an established diagnosis of AD based on physician report of at least one-year duration will be considered eligible for this study.
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| The University of Pennsylvania | Philadelphia | Pennsylvania | 19140 | United States |
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| ID | Term |
|---|---|
| D003876 | Dermatitis, Atopic |
| D004485 | Eczema |
| ID | Term |
|---|---|
| D012873 | Skin Diseases, Genetic |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D003872 | Dermatitis |
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| D012871 | Skin Diseases |
| D017437 | Skin and Connective Tissue Diseases |
| D017443 | Skin Diseases, Eczematous |
| D006969 | Hypersensitivity, Immediate |
| D006967 | Hypersensitivity |
| D007154 | Immune System Diseases |