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Statements

Subject Item
n2:RIV%2F00064203%3A_____%2F11%3A7035%21RIV12-MZ0-00064203
rdf:type
n10:Vysledek skos:Concept
rdfs:seeAlso
http://www.ncbi.nlm.nih.gov/pubmed/21490620
dcterms:description
The genetically determined impairment of the skin barrier is a primary cause of eczema. As numerous genes essential for an intact epidermis reside within the epidermal differentiation complex (EDC), we screened the National Center for Biotechnology Information (NCBI) database for putatively functional polymorphisms in the EDC genes and tested them for association with eczema. We identified 20 polymorphisms with predicted major impact on protein function. Of these, 4 were validated in 94 eczema patients: a nonsense mutation in FLG2 (rs12568784), a stop codon mutation in LCE1D (rs41268500), a 24-bp deletion in SPRR3 (rs28989168), and a frameshift mutation in S100A3 (rs11390146). The minor allele frequencies were 15.1, 6.1, 47.2, and 0.4%, respectively. Association testing of the validated polymorphisms in 555 eczema patients and 375 controls identified a significant effect of rs28989168 (SPRR3) on eczema. The association was replicated in another 1,314 cases and 1,322 controls, yielding an overall odds ratio of 1.30 (95% confidence interval 1.12-1.51; P = 0.00067) for a dominant mode of inheritance. Small proline-rich proteins (SPRRs) are crossbridging proteins in the cornified cell envelope (CE), which provides the main barrier function of stratified squamous epithelia. The SPRR3 variant associated with eczema carried an extra 24-bp repeat in the central domain, which may alter the physical properties of the CE. The genetically determined impairment of the skin barrier is a primary cause of eczema. As numerous genes essential for an intact epidermis reside within the epidermal differentiation complex (EDC), we screened the National Center for Biotechnology Information (NCBI) database for putatively functional polymorphisms in the EDC genes and tested them for association with eczema. We identified 20 polymorphisms with predicted major impact on protein function. Of these, 4 were validated in 94 eczema patients: a nonsense mutation in FLG2 (rs12568784), a stop codon mutation in LCE1D (rs41268500), a 24-bp deletion in SPRR3 (rs28989168), and a frameshift mutation in S100A3 (rs11390146). The minor allele frequencies were 15.1, 6.1, 47.2, and 0.4%, respectively. Association testing of the validated polymorphisms in 555 eczema patients and 375 controls identified a significant effect of rs28989168 (SPRR3) on eczema. The association was replicated in another 1,314 cases and 1,322 controls, yielding an overall odds ratio of 1.30 (95% confidence interval 1.12-1.51; P = 0.00067) for a dominant mode of inheritance. Small proline-rich proteins (SPRRs) are crossbridging proteins in the cornified cell envelope (CE), which provides the main barrier function of stratified squamous epithelia. The SPRR3 variant associated with eczema carried an extra 24-bp repeat in the central domain, which may alter the physical properties of the CE.
dcterms:title
Association Screening in the Epidermal Differentiation Complex (EDC) Identifies an SPRR3 Repeat Number Variant as a Risk Factor for Eczema Association Screening in the Epidermal Differentiation Complex (EDC) Identifies an SPRR3 Repeat Number Variant as a Risk Factor for Eczema
skos:prefLabel
Association Screening in the Epidermal Differentiation Complex (EDC) Identifies an SPRR3 Repeat Number Variant as a Risk Factor for Eczema Association Screening in the Epidermal Differentiation Complex (EDC) Identifies an SPRR3 Repeat Number Variant as a Risk Factor for Eczema
skos:notation
RIV/00064203:_____/11:7035!RIV12-MZ0-00064203
n10:predkladatel
n11:ico%3A00064203
n3:aktivita
n7:I n7:Z
n3:aktivity
I, Z(MZ0FNM2005)
n3:cisloPeriodika
8
n3:dodaniDat
n14:2012
n3:domaciTvurceVysledku
n8:9104992 n8:9856471
n3:druhVysledku
n19:J
n3:duvernostUdaju
n12:S
n3:entitaPredkladatele
n6:predkladatel
n3:idSjednocenehoVysledku
187338
n3:idVysledku
RIV/00064203:_____/11:7035
n3:jazykVysledku
n18:eng
n3:klicovaSlova
proline-rich proteins; cornified cell envelopes; atopic-dermatitis; structural proteins; gene-expression; filaggrin; skin; family; cornification; polymorphism
n3:klicoveSlovo
n5:atopic-dermatitis n5:structural%20proteins n5:polymorphism n5:proline-rich%20proteins n5:skin n5:gene-expression n5:family n5:filaggrin n5:cornification n5:cornified%20cell%20envelopes
n3:kodStatuVydavatele
US - Spojené státy americké
n3:kontrolniKodProRIV
[F1E37A011BCE]
n3:nazevZdroje
Journal of Investigative Dermatology
n3:obor
n16:FO
n3:pocetDomacichTvurcuVysledku
2
n3:pocetTvurcuVysledku
10
n3:rokUplatneniVysledku
n14:2011
n3:svazekPeriodika
131
n3:tvurceVysledku
Esparza-Gordillo, J. Macek jr., Milan Kurek, M. Marenholz, I. Bauerfeind, A. Ciechanowicz, A. Rivera, VAG Lee-Kirsch, M. A. Piskáčková, Tereza Lee, YA
n3:wos
000292731100012
n3:zamer
n17:MZ0FNM2005
s:issn
0022-202X
s:numberOfPages
6