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Genetic variants influenced susceptibility to atopic dermatitis with eczema herpeticum

SAN DIEGO — Rare variants in the IFNGR1 gene contributed to atopic dermatitis with eczema herpeticum susceptibility, according to late-breaking data presented at the 2014 American Academy of Allergy, Asthma and Immunology annual meeting.

Researchers conducted targeted resequencing in 122 European American (EA) patients with atopic dermatitis and eczema herpeticum (ADEH positive) and 107 ADEH negative controls. Genotyping for the validation cohort of 411 EA patients (133 ADEH+, 157 ADEH–, 121 nonatopic [NA] controls) was conducted to determine rare missense mutations. An optimal sequence kernel association test was used to assess associations between rare variants and risk for ADEH positivity.

“The [interferon-gamma] induced CD80 expression on peripheral blood mononuclear cells was examined in a selected group of patients,” the researchers reported.

Eighteen common and 118 rare variants of IFNGR1 were identified. Six rare variants were missense mutations, including three which were possibly damaging (VAL14Met, Val61Ile and Tyr397Cys). When 133 ADEH positive patients were compared with 278 non-ADEH positive patients (157 ADEH–, 121 NA), the potential damaging variants displayed greater risk for ADEH positive patients (P<.031). Findings were compared with an unphenotyped control population (n=4,300 EAs) from the Exome Sequencing Project, with an enhanced signal observed (P<7.48E-14).

“In functional studies conducted thus far, we observed that an 8-year-old boy carrying the Val14Met variant had blunted response to IFN-gamma induced CD80 expression,” the researchers reported, adding that further studies are under way.

For more information:

Gao, L. Abstract L12. Presented at: AAAAI2014; Feb. 28-March 4, 2014; San Diego.

Disclosure: Li Gao, MD, PhD, reported no relevant financial disclosures.