@article{3c888dfe43a84038b277304f330aed0b,
title = "Human leukocyte antigen class-I variation is associated with atopic dermatitis: A case-control study",
abstract = "Atopic dermatitis (AD) is a common immune-medicated skin disease. Previous studies have explored the relationship between Human Leukocyte Antigen (HLA) allelic variation and AD with conflicting results. The aim was to examine HLA Class I genetic variation, specifically peptide binding groove variation, and associations with AD. A case-control study was designed to evaluate HLA class I allelic variation and binding pocket polymorphisms, using next generation sequencing on 464 subjects with AD and 388 without AD. Logistic regression was used to evaluate associations with AD by estimating odds ratios (95% confidence intervals). Significant associations were noted with susceptibility to AD (B*53:01) and protection from AD (A*01:01, A*02:01, B*07:02 and C*07:02). Evaluation of polymorphic residues in Class I binding pockets revealed six amino acid residues conferring protection against AD: A9F (HLA-A, position 9, phenylalanine) [pocket B/C], A97I [pocket C/E], A152V [pocket E], A156R [pocket D/E], B163E [pocket A] and C116S [pocket F]. These findings demonstrate that specific HLA class I components are associated with susceptibility or protection from AD. Individual amino acid residues are relevant to protection from AD and set the foundation for evaluating potential HLA Class I molecules in complex with peptides/antigens that may initiate or interfere with T-cell responses.",
author = "Margolis, {D. J.} and N. Mitra and Duke, {J. L.} and R. Berna and Margolis, {J. D.} and O. Hoffstad and Kim, {B. S.} and Yan, {A. C.} and Zaenglein, {A. L.} and {Chiesa Fuxench}, Z. and A. Dinou and J. Wasserman and N. Tairis and Mosbruger, {T. L.} and D. Ferriola and Georgios Damianos and Ioanna Kotsopoulou and Monos, {D. S.}",
note = "Funding Information: This work was supported in part by grants from the National Institutes for Health (NIAMS) R01-AR060962 (PI: Margolis) and R01-AR070873 (MPI: Margolis/Monos). The sponsors had no role in the design and conduct of the study; collection, management, analysis and interpretation of the data; preparation, review or approval of the manuscript; and the decision to submit the manuscript for publication. Funding Information: David Margolis is or recently has been a consultant for Pfizer, Leo, and Sanofi with respect to studies of atopic dermatitis and serves on an advisory board for the National Eczema Association. Dr. Chiesa Fuxench has served as a consultant for the National Eczema Association, Asthma and Allergy Foundation of America, Pfizer, Abbvie, and Sanofi receiving honoraria, and receives or has received research grants (to the Trustees of the University of Pennsylvania) from Regeneron, Sanofi, Leo, Tioga, Vanda pharmaceuticals, and Menlo Therapeutics for clinical trials related to atopic dermatitis; and has received payment for continuing medical education work related to atopic dermatitis that was supported indirectly by Sanofi and Regeneron. Dimitri S. Monos is Chair of the Scientific Advisory Board of Omixon and owns options in Omixon. Dimitri Monos, Deborah Ferriola, and Jamie Duke receive royalties from Omixon. Brian S. Kim has served as a consultant to AbbVie, Almirall, Amagma, Cara Therapeutics, Daewoong, Incyte, OM Pharma, and Pfizer; has served on advisory boards for AstraZeneca, Boehringer Ingelheim, Cara Therapeutics, Celgene Corporation, Regeneron Pharmaceuticals, Sanofi Genzyme, and Trevi Therapeutics; is a shareholder in Locus Biosciences; has a pending patent for JAK inhibitors in chronic itch. Funding Information: This work was supported in part by grants from the National Institutes for Health (NIAMS) R01-AR060962 (PI: Margolis) and R01-AR070873 (MPI: Margolis/Monos). The sponsors had no role in the design and conduct of the study; collection, management, analysis and interpretation of the data; preparation, review or approval of the manuscript; and the decision to submit the manuscript for publication. David Margolis is or recently has been a consultant for Pfizer, Leo, and Sanofi with respect to studies of atopic dermatitis and serves on an advisory board for the National Eczema Association. Dr. Chiesa Fuxench has served as a consultant for the National Eczema Association, Asthma and Allergy Foundation of America, Pfizer, Abbvie, and Sanofi receiving honoraria, and receives or has received research grants (to the Trustees of the University of Pennsylvania) from Regeneron, Sanofi, Leo, Tioga, Vanda pharmaceuticals, and Menlo Therapeutics for clinical trials related to atopic dermatitis; and has received payment for continuing medical education work related to atopic dermatitis that was supported indirectly by Sanofi and Regeneron. Dimitri S. Monos is Chair of the Scientific Advisory Board of Omixon and owns options in Omixon. Dimitri Monos, Deborah Ferriola, and Jamie Duke receive royalties from Omixon. Brian S. Kim has served as a consultant to AbbVie, Almirall, Amagma, Cara Therapeutics, Daewoong, Incyte, OM Pharma, and Pfizer; has served on advisory boards for AstraZeneca, Boehringer Ingelheim, Cara Therapeutics, Celgene Corporation, Regeneron Pharmaceuticals, Sanofi Genzyme, and Trevi Therapeutics; is a shareholder in Locus Biosciences; has a pending patent for JAK inhibitors in chronic itch. Genotyping frequency results are available in the supplement and on request. Publisher Copyright: {\textcopyright} 2021 American Society for Histocompatibility and Immunogenetics",
year = "2021",
month = aug,
doi = "10.1016/j.humimm.2021.04.001",
language = "English (US)",
volume = "82",
pages = "593--599",
journal = "Human Immunology",
issn = "0198-8859",
publisher = "Elsevier Inc.",
number = "8",
}