Prevalence of filaggrin loss-of-function variants in Chilean population with and without atopic dermatitis
Date
2021
Type:
Article
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Abstract
Background Filaggrin (FLG) loss-of-function variants are major genetic risk factors for
atopic dermatitis (AD), but these have not been studied in Latin American populations with
and without AD.
Methods FLG variants R501X and 2282del4 were genotyped in 275 Chilean adults with
and without AD from the “Early origins of allergy and asthma” (ARIES) cohort and in 227
patients from an AD cohort based in Santiago, Chile.
Results Among adults in the ARIES cohort, 3.3% were carriers of R501X and 2.9% of
2282del4 variants, all heterozygotes. In this cohort, 6.2% were FLG variant carriers: 11.1%
of subjects reporting AD were carriers of FLG variants vs. 5.2% in those without AD
(P = 0.13). In this first cohort, FLG variants were not significantly associated with asthma,
allergic rhinitis, or food allergy. In the AD cohort, the prevalence of FLG variants was 7%
for R501X, 2.2% for the 2282del4 variant, and 9.3% for the combined genotype. In this
cohort, FLG variants were present in 15.5% of severe AD vs. 7.1% of mild-to-moderate AD
subjects (P = 0.056). Evaluation of Chilean population from both cohorts combined
(n = 502) revealed that FLG variants were not significantly associated with AD (OR = 1.92
[95% CI 0.95–3.9], P = 0.067) but were associated with asthma (OR = 2.16 [95% CI 1.02–
4.56], P = 0.039).
Conclusions This is the first study to evaluate FLG loss-of-function variants R501X and
2282del4 in Latin American population, revealing a similar prevalence of these FLG variant
carriers to that of European populations. Among Chileans, FLG variants were significantly
associated with asthma but not AD.
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Citation
Cárdenas, G.V., Iturriaga, C., Hernández, C.D., Tejos-Bravo, M., Pérez-Mateluna, G., Cabalin, C., Urzúa, M., Venegas-Salas, L.F., Fraga, J.P., Rebolledo, B., Poli, M.C., Repetto, G.M., Casanello, P., Castro-Rodríguez, J.A. and Borzutzky, A. (2021), Prevalence of filaggrin loss-of-function variants in Chilean population with and without atopic dermatitis. Int J Dermatol