No Association of filaggrin copy number variation and atopic dermatitis risk in White and Black Americans

Abstract

Atopic dermatitis (AD) is a chronic, inflammatory skin condition that affects nearly 10% of the United States' population. 1 Its pathophysiology is multifactorial including the dysfunction of the skin's barrier, IgE-mediated hypersensitivity reactions and dysfunctional immune responsiveness. 2 In the setting of Th2 cytokines IL-4 and IL-13 produced by lymphocytes, keratinocytes produce less filaggrin,

Type 2 Inflammation Contributes to Skin Barrier Dysfunction in Atopic Dermatitis

“…Copy number variants are associated with AD in some but not all populations. For example, in a cohort study in Ireland, reduced copy numbers were more frequent in patients with AD than in normal controls ( Brown et al., 2012 ), whereas studies in other populations did not find any association between copy number variation and the risk of AD ( Fernandez et al., 2017 ; Fulton et al., 2022 ).…”

Race science without racists: how bigoted paradigms persist in allergy research

“…Genetics do not explain racial disparities in AD ( 46 , 47 ). The increased prevalence of AD in African American communities cannot be explained by: the allelic frequencies of FLG loss of function variants, copy number variations in FLG , the AD-polygenic score (PGS) derived from Europeans, the PGS for African ancestry, nor the PGS for pigmentation ( 46 , 47 ).…”

“…Genetics do not explain racial disparities in AD ( 46 , 47 ). The increased prevalence of AD in African American communities cannot be explained by: the allelic frequencies of FLG loss of function variants, copy number variations in FLG , the AD-polygenic score (PGS) derived from Europeans, the PGS for African ancestry, nor the PGS for pigmentation ( 46 , 47 ). Taken together, the modern understanding of environmental exposures that contribute to AD require a baseline assessment of public health metrics prior to insinuating innate group differences, and especially before racializing such claims in atopy.…”