Genetic variants in interferon regulatory factor 2 (IRF2) are associated with atopic dermatitis and eczema herpeticum

Pei Song Gao, Donald Y M Leung, Nicholas M. Rafaels, Mark Boguniewicz, Tracey Hand, Li Gao, Tissa R. Hata, Lynda C. Schneider, Jon Hanifin, Terri H. Beaty, Lisa A. Beck, Adriana Weinberg, Kathleen C. Barnes

Research output: Contribution to journalArticle

35 Citations (Scopus)

Abstract

Interferon regulatory factor 2 (IRF2) is a member of a family of transcriptional factors involved in the modulation of IFN-induced immune responses to viral infection. To test whether genetic variants in IRF2 predict risk of atopic dermatitis (AD) and ADEH (atopic dermatitis complicated by eczema herpeticum), we genotyped 78 IRF2 tagging single-nucleotide polymorphisms (SNPs) in both European-American (n=435) and African-American (n=339) populations. Significant associations were observed between AD and two SNPs (rs793814, P=0.007, odds ratio (OR)=0.52; rs3756094, P=0.037, OR=0.66) among European Americans and one SNP (rs3775572, P=0.016, OR=0.46) among African Americans. Significant associations were also observed between ADEH and five SNPs (P=0.049-0.022) among European Americans. The association with ADEH was further strengthened by haplotype analyses, wherein a five-SNP (CAGGA) haplotype showed the strongest association with ADEH (P=0.0008). Eight IRF2 SNPs were significantly associated with IFN-γ production after herpes simplex virus (HSV) stimulation (P=0.048-0.0008), including an AD-associated SNP (rs13139310, P=0.008). Our findings suggest that distinct markers in IRF2 may be associated with AD and ADEH, which may depend upon ethnic ancestry, and genetic variants in IRF2 may contribute to an abnormal immune response to HSV.

Original languageEnglish (US)
Pages (from-to)650-657
Number of pages8
JournalJournal of Investigative Dermatology
Volume132
Issue number3 PART 1
DOIs
StatePublished - Mar 2012

Fingerprint

Interferon Regulatory Factor-2
Kaposi Varicelliform Eruption
Atopic Dermatitis
Polymorphism
Single Nucleotide Polymorphism
Nucleotides
Odds Ratio
Simplexvirus
Viruses
African Americans
Haplotypes
Virus Diseases

ASJC Scopus subject areas

  • Dermatology
  • Biochemistry
  • Cell Biology
  • Molecular Biology

Cite this

Gao, P. S., Leung, D. Y. M., Rafaels, N. M., Boguniewicz, M., Hand, T., Gao, L., ... Barnes, K. C. (2012). Genetic variants in interferon regulatory factor 2 (IRF2) are associated with atopic dermatitis and eczema herpeticum. Journal of Investigative Dermatology, 132(3 PART 1), 650-657. https://doi.org/10.1038/jid.2011.374

Genetic variants in interferon regulatory factor 2 (IRF2) are associated with atopic dermatitis and eczema herpeticum. / Gao, Pei Song; Leung, Donald Y M; Rafaels, Nicholas M.; Boguniewicz, Mark; Hand, Tracey; Gao, Li; Hata, Tissa R.; Schneider, Lynda C.; Hanifin, Jon; Beaty, Terri H.; Beck, Lisa A.; Weinberg, Adriana; Barnes, Kathleen C.

In: Journal of Investigative Dermatology, Vol. 132, No. 3 PART 1, 03.2012, p. 650-657.

Research output: Contribution to journalArticle

Gao, PS, Leung, DYM, Rafaels, NM, Boguniewicz, M, Hand, T, Gao, L, Hata, TR, Schneider, LC, Hanifin, J, Beaty, TH, Beck, LA, Weinberg, A & Barnes, KC 2012, 'Genetic variants in interferon regulatory factor 2 (IRF2) are associated with atopic dermatitis and eczema herpeticum', Journal of Investigative Dermatology, vol. 132, no. 3 PART 1, pp. 650-657. https://doi.org/10.1038/jid.2011.374
Gao, Pei Song ; Leung, Donald Y M ; Rafaels, Nicholas M. ; Boguniewicz, Mark ; Hand, Tracey ; Gao, Li ; Hata, Tissa R. ; Schneider, Lynda C. ; Hanifin, Jon ; Beaty, Terri H. ; Beck, Lisa A. ; Weinberg, Adriana ; Barnes, Kathleen C. / Genetic variants in interferon regulatory factor 2 (IRF2) are associated with atopic dermatitis and eczema herpeticum. In: Journal of Investigative Dermatology. 2012 ; Vol. 132, No. 3 PART 1. pp. 650-657.
@article{aa060da1d561465988f4dfe0e2844c75,
title = "Genetic variants in interferon regulatory factor 2 (IRF2) are associated with atopic dermatitis and eczema herpeticum",
abstract = "Interferon regulatory factor 2 (IRF2) is a member of a family of transcriptional factors involved in the modulation of IFN-induced immune responses to viral infection. To test whether genetic variants in IRF2 predict risk of atopic dermatitis (AD) and ADEH (atopic dermatitis complicated by eczema herpeticum), we genotyped 78 IRF2 tagging single-nucleotide polymorphisms (SNPs) in both European-American (n=435) and African-American (n=339) populations. Significant associations were observed between AD and two SNPs (rs793814, P=0.007, odds ratio (OR)=0.52; rs3756094, P=0.037, OR=0.66) among European Americans and one SNP (rs3775572, P=0.016, OR=0.46) among African Americans. Significant associations were also observed between ADEH and five SNPs (P=0.049-0.022) among European Americans. The association with ADEH was further strengthened by haplotype analyses, wherein a five-SNP (CAGGA) haplotype showed the strongest association with ADEH (P=0.0008). Eight IRF2 SNPs were significantly associated with IFN-γ production after herpes simplex virus (HSV) stimulation (P=0.048-0.0008), including an AD-associated SNP (rs13139310, P=0.008). Our findings suggest that distinct markers in IRF2 may be associated with AD and ADEH, which may depend upon ethnic ancestry, and genetic variants in IRF2 may contribute to an abnormal immune response to HSV.",
author = "Gao, {Pei Song} and Leung, {Donald Y M} and Rafaels, {Nicholas M.} and Mark Boguniewicz and Tracey Hand and Li Gao and Hata, {Tissa R.} and Schneider, {Lynda C.} and Jon Hanifin and Beaty, {Terri H.} and Beck, {Lisa A.} and Adriana Weinberg and Barnes, {Kathleen C.}",
year = "2012",
month = "3",
doi = "10.1038/jid.2011.374",
language = "English (US)",
volume = "132",
pages = "650--657",
journal = "Journal of Investigative Dermatology",
issn = "0022-202X",
publisher = "Nature Publishing Group",
number = "3 PART 1",

}

TY - JOUR

T1 - Genetic variants in interferon regulatory factor 2 (IRF2) are associated with atopic dermatitis and eczema herpeticum

AU - Gao, Pei Song

AU - Leung, Donald Y M

AU - Rafaels, Nicholas M.

AU - Boguniewicz, Mark

AU - Hand, Tracey

AU - Gao, Li

AU - Hata, Tissa R.

AU - Schneider, Lynda C.

AU - Hanifin, Jon

AU - Beaty, Terri H.

AU - Beck, Lisa A.

AU - Weinberg, Adriana

AU - Barnes, Kathleen C.

PY - 2012/3

Y1 - 2012/3

N2 - Interferon regulatory factor 2 (IRF2) is a member of a family of transcriptional factors involved in the modulation of IFN-induced immune responses to viral infection. To test whether genetic variants in IRF2 predict risk of atopic dermatitis (AD) and ADEH (atopic dermatitis complicated by eczema herpeticum), we genotyped 78 IRF2 tagging single-nucleotide polymorphisms (SNPs) in both European-American (n=435) and African-American (n=339) populations. Significant associations were observed between AD and two SNPs (rs793814, P=0.007, odds ratio (OR)=0.52; rs3756094, P=0.037, OR=0.66) among European Americans and one SNP (rs3775572, P=0.016, OR=0.46) among African Americans. Significant associations were also observed between ADEH and five SNPs (P=0.049-0.022) among European Americans. The association with ADEH was further strengthened by haplotype analyses, wherein a five-SNP (CAGGA) haplotype showed the strongest association with ADEH (P=0.0008). Eight IRF2 SNPs were significantly associated with IFN-γ production after herpes simplex virus (HSV) stimulation (P=0.048-0.0008), including an AD-associated SNP (rs13139310, P=0.008). Our findings suggest that distinct markers in IRF2 may be associated with AD and ADEH, which may depend upon ethnic ancestry, and genetic variants in IRF2 may contribute to an abnormal immune response to HSV.

AB - Interferon regulatory factor 2 (IRF2) is a member of a family of transcriptional factors involved in the modulation of IFN-induced immune responses to viral infection. To test whether genetic variants in IRF2 predict risk of atopic dermatitis (AD) and ADEH (atopic dermatitis complicated by eczema herpeticum), we genotyped 78 IRF2 tagging single-nucleotide polymorphisms (SNPs) in both European-American (n=435) and African-American (n=339) populations. Significant associations were observed between AD and two SNPs (rs793814, P=0.007, odds ratio (OR)=0.52; rs3756094, P=0.037, OR=0.66) among European Americans and one SNP (rs3775572, P=0.016, OR=0.46) among African Americans. Significant associations were also observed between ADEH and five SNPs (P=0.049-0.022) among European Americans. The association with ADEH was further strengthened by haplotype analyses, wherein a five-SNP (CAGGA) haplotype showed the strongest association with ADEH (P=0.0008). Eight IRF2 SNPs were significantly associated with IFN-γ production after herpes simplex virus (HSV) stimulation (P=0.048-0.0008), including an AD-associated SNP (rs13139310, P=0.008). Our findings suggest that distinct markers in IRF2 may be associated with AD and ADEH, which may depend upon ethnic ancestry, and genetic variants in IRF2 may contribute to an abnormal immune response to HSV.

UR - http://www.scopus.com/inward/record.url?scp=84857052949&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84857052949&partnerID=8YFLogxK

U2 - 10.1038/jid.2011.374

DO - 10.1038/jid.2011.374

M3 - Article

C2 - 22113474

AN - SCOPUS:84857052949

VL - 132

SP - 650

EP - 657

JO - Journal of Investigative Dermatology

JF - Journal of Investigative Dermatology

SN - 0022-202X

IS - 3 PART 1

ER -