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Raman profiles of the stratum corneum define 3 filaggrin genotype-determined atopic dermatitis endophenotypes

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Raman profiles of the stratum corneum define 3 filaggrin genotype-determined atopic dermatitis endophenotypes. / O'Regan, Grainne M.; Kemperman, Patrick M. J. H.; Sandilands, Aileen; Chen, Huijia; Campbell, Linda E.; Kroboth, Karin; Watson, Rosemarie; Rowland, Marion; Puppels, Gerwin J.; McLean, W. H. Irwin; Caspers, Peter J.; Irvine, Alan D.

In: Journal of Allergy and Clinical Immunology, Vol. 126, No. 3, 09.2010, p. 574-U270.

Research output: Contribution to journalArticle

Harvard

O'Regan, GM, Kemperman, PMJH, Sandilands, A, Chen, H, Campbell, LE, Kroboth, K, Watson, R, Rowland, M, Puppels, GJ, McLean, WHI, Caspers, PJ & Irvine, AD 2010, 'Raman profiles of the stratum corneum define 3 filaggrin genotype-determined atopic dermatitis endophenotypes' Journal of Allergy and Clinical Immunology, vol 126, no. 3, pp. 574-U270., 10.1016/j.jaci.2010.04.038

APA

O'Regan, G. M., Kemperman, P. M. J. H., Sandilands, A., Chen, H., Campbell, L. E., Kroboth, K., ... Irvine, A. D. (2010). Raman profiles of the stratum corneum define 3 filaggrin genotype-determined atopic dermatitis endophenotypes. Journal of Allergy and Clinical Immunology, 126(3), 574-U270. 10.1016/j.jaci.2010.04.038

Vancouver

O'Regan GM, Kemperman PMJH, Sandilands A, Chen H, Campbell LE, Kroboth K et al. Raman profiles of the stratum corneum define 3 filaggrin genotype-determined atopic dermatitis endophenotypes. Journal of Allergy and Clinical Immunology. 2010 Sep;126(3):574-U270. Available from: 10.1016/j.jaci.2010.04.038

Author

O'Regan, Grainne M.; Kemperman, Patrick M. J. H.; Sandilands, Aileen; Chen, Huijia; Campbell, Linda E.; Kroboth, Karin; Watson, Rosemarie; Rowland, Marion; Puppels, Gerwin J.; McLean, W. H. Irwin; Caspers, Peter J.; Irvine, Alan D. / Raman profiles of the stratum corneum define 3 filaggrin genotype-determined atopic dermatitis endophenotypes.

In: Journal of Allergy and Clinical Immunology, Vol. 126, No. 3, 09.2010, p. 574-U270.

Research output: Contribution to journalArticle

Bibtex - Download

@article{2d30bfeaf8d84dcab748a66455156e66,
title = "Raman profiles of the stratum corneum define 3 filaggrin genotype-determined atopic dermatitis endophenotypes",
keywords = "Atopic dermatitis, confocal Raman spectroscopy, eczema, filaggrin, hyperlinearity, natural moisturizing factor, transepidermal water loss, tyrosine, OF-FUNCTION MUTATIONS, EPIDERMAL BARRIER FUNCTION, CAUSE ICHTHYOSIS VULGARIS, DRY SKIN, COMPREHENSIVE ANALYSIS, POLYETHYLENE-GLYCOLS, PROFILAGGRIN GENE, UNINVOLVED SKIN, SCHOOL-CHILDREN, MOLECULAR-LEVEL",
author = "O'Regan, {Grainne M.} and Kemperman, {Patrick M. J. H.} and Aileen Sandilands and Huijia Chen and Campbell, {Linda E.} and Karin Kroboth and Rosemarie Watson and Marion Rowland and Puppels, {Gerwin J.} and McLean, {W. H. Irwin} and Caspers, {Peter J.} and Irvine, {Alan D.}",
year = "2010",
doi = "10.1016/j.jaci.2010.04.038",
volume = "126",
number = "3",
pages = "574--U270",
journal = "Journal of Allergy and Clinical Immunology",
issn = "0091-6749",

}

RIS (suitable for import to EndNote) - Download

TY - JOUR

T1 - Raman profiles of the stratum corneum define 3 filaggrin genotype-determined atopic dermatitis endophenotypes

A1 - O'Regan,Grainne M.

A1 - Kemperman,Patrick M. J. H.

A1 - Sandilands,Aileen

A1 - Chen,Huijia

A1 - Campbell,Linda E.

A1 - Kroboth,Karin

A1 - Watson,Rosemarie

A1 - Rowland,Marion

A1 - Puppels,Gerwin J.

A1 - McLean,W. H. Irwin

A1 - Caspers,Peter J.

A1 - Irvine,Alan D.

AU - O'Regan,Grainne M.

AU - Kemperman,Patrick M. J. H.

AU - Sandilands,Aileen

AU - Chen,Huijia

AU - Campbell,Linda E.

AU - Kroboth,Karin

AU - Watson,Rosemarie

AU - Rowland,Marion

AU - Puppels,Gerwin J.

AU - McLean,W. H. Irwin

AU - Caspers,Peter J.

AU - Irvine,Alan D.

PY - 2010/9

Y1 - 2010/9

N2 - <p>Background: Filaggrin (FLG) has a central role in the pathogenesis of atopic dermatitis (AD). FLG is a complex repetitive gene; highly population-specific mutations and multiple rare mutations make routine genotyping complex. Furthermore, the mechanistic pathways through which mutations in FLG predispose to AD are unclear.</p><p>Objectives: We sought to determine whether specific Raman microspectroscopic natural moisturizing factor (NMF) signatures of the stratum corneum could be used as markers of FLG genotype in patients with moderate-to-severe AD.</p><p>Methods: The composition and function of the stratum corneum in 132 well-characterized patients with moderate-to-severe AD were assessed by means of confocal Raman microspectroscopy and measurement of transepidermal water loss (TEWL). These parameters were compared with FLG genotype and clinical assessment.</p><p>Results: Three subpopulations closely corresponding with FLG genotype were identified by using Raman spectroscopy. The Raman signature of NMF discriminated between FLG-associated AD and non-FLG-associated AD (area under the curve, 0.94; 95% CI, 0.91-0.99). In addition, within the subset of FLG-associated AD, NMF distinguished between patients with 1 versus 2 mutations. Five novel FLG mutations were found on rescreening outlying patients with Raman signatures suggestive of undetected mutations (R3418X, G1138X, S1040X, 10085delC, and L2933X). TEWL did not associate with FLG genotype subgroups.</p><p>Conclusions: Raman spectroscopy permits rapid and highly accurate stratification of FLG-associated AD. FLG mutations do not influence TEWL within established moderate-to-severe AD. (J Allergy Clin Immunol 2010;126:574-80.)</p>

AB - <p>Background: Filaggrin (FLG) has a central role in the pathogenesis of atopic dermatitis (AD). FLG is a complex repetitive gene; highly population-specific mutations and multiple rare mutations make routine genotyping complex. Furthermore, the mechanistic pathways through which mutations in FLG predispose to AD are unclear.</p><p>Objectives: We sought to determine whether specific Raman microspectroscopic natural moisturizing factor (NMF) signatures of the stratum corneum could be used as markers of FLG genotype in patients with moderate-to-severe AD.</p><p>Methods: The composition and function of the stratum corneum in 132 well-characterized patients with moderate-to-severe AD were assessed by means of confocal Raman microspectroscopy and measurement of transepidermal water loss (TEWL). These parameters were compared with FLG genotype and clinical assessment.</p><p>Results: Three subpopulations closely corresponding with FLG genotype were identified by using Raman spectroscopy. The Raman signature of NMF discriminated between FLG-associated AD and non-FLG-associated AD (area under the curve, 0.94; 95% CI, 0.91-0.99). In addition, within the subset of FLG-associated AD, NMF distinguished between patients with 1 versus 2 mutations. Five novel FLG mutations were found on rescreening outlying patients with Raman signatures suggestive of undetected mutations (R3418X, G1138X, S1040X, 10085delC, and L2933X). TEWL did not associate with FLG genotype subgroups.</p><p>Conclusions: Raman spectroscopy permits rapid and highly accurate stratification of FLG-associated AD. FLG mutations do not influence TEWL within established moderate-to-severe AD. (J Allergy Clin Immunol 2010;126:574-80.)</p>

KW - Atopic dermatitis

KW - confocal Raman spectroscopy

KW - eczema

KW - filaggrin

KW - hyperlinearity

KW - natural moisturizing factor

KW - transepidermal water loss

KW - tyrosine

KW - OF-FUNCTION MUTATIONS

KW - EPIDERMAL BARRIER FUNCTION

KW - CAUSE ICHTHYOSIS VULGARIS

KW - DRY SKIN

KW - COMPREHENSIVE ANALYSIS

KW - POLYETHYLENE-GLYCOLS

KW - PROFILAGGRIN GENE

KW - UNINVOLVED SKIN

KW - SCHOOL-CHILDREN

KW - MOLECULAR-LEVEL

U2 - 10.1016/j.jaci.2010.04.038

DO - 10.1016/j.jaci.2010.04.038

M1 - Article

JO - Journal of Allergy and Clinical Immunology

JF - Journal of Allergy and Clinical Immunology

SN - 0091-6749

IS - 3

VL - 126

SP - 574-U270

ER -

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