title: Altered Expression of Genes Encoding Cornulin and Repetin in Atopic Dermatitis.
abstract: BACKGROUND
  It is assumed that beside alterations in the filaggrin gene (FLG), disturbances within genes encoding other cornified envelope proteins are also involved in atopic dermatitis (AD). To identify new potential markers of AD, we studied the polymorphisms of genes encoding repetin (RPTN), cornulin (CRNN), and their expression in the skin of AD patients.
  
  
  METHODS
  Polymorphisms in CRNN (rs941934), RPTN (rs284544, rs28441202, rs3001978, and rs12117644), and FLG mutations (R2447X, S3247X) were analyzed by TaqMan genotyping assay and by PCR-RFLP in the blood samples of 159 AD patients and 108 healthy subjects. The expression levels of CRNN and RPTN were determined by qRT-PCR in 34 AD skin samples (17 lesional and 17 nonlesional) and in 27 skin biopsies from healthy volunteers. The AD patients were recruited from the clinic of the university hospital between 2012 and 2014.
  
  
  RESULTS
  CRNN rs941934 (A allele) was associated with AD (OR 2.095, p = 0.008), a severe course of disease (p = 0.041), elevated IgE levels (p = 0.047), eosinophilia (p = 0.018), and concomitant asthma (p = 0.004). The mRNA level of CRNN was decreased in the AD skin (p = 0.041). In the AD patients without FLG mutations, the CC genotype of RPTN rs3001978 was associated with AD (OR 0.39, p = 0.037), early age at onset (p = 0.033), pruritus (p = 0.021), severity of AD (p = 0.045), and concomitant asthma (p = 0.041). The elevated mRNA levels of RPTN in lesional (p < 0.001) and nonlesional (p = 0.017) AD skin were observed.
  
  
  CONCLUSIONS
  The single-nucleotide polymorphisms of CRNN (rs941934) and RPTN (rs3001978, rs28441202) may contribute to AD development, but further studies on a larger group of AD patients are needed to verify this assumption.
authors.affiliation: Departments of Dermatology, Venereology, and Allergology, Medical University of Gdansk, Gdansk, Poland.
authors.forename: Magdalena
authors.initials: M
authors.lastname: Trzeciak
authors.forename: Monika
authors.initials: M
authors.lastname: Sakowicz-Burkiewicz
authors.forename: Martyna
authors.initials: M
authors.lastname: Wesserling
authors.forename: Jolanta
authors.initials: J
authors.lastname: Gleń
authors.forename: Daria
authors.initials: D
authors.lastname: Dobaczewska
authors.forename: Tomasz
authors.initials: T
authors.lastname: Bandurski
authors.forename: Roman
authors.initials: R
authors.lastname: Nowicki
authors.forename: Tadeusz
authors.initials: T
authors.lastname: Pawelczyk
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D003876:Dermatitis, Atopic / Q000235:genetics* / Q000473:pathology; D005260:Female; D000091344:Filaggrin Proteins; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D007073:Immunoglobulin E / Q000097:blood; D008297:Male; D008565:Membrane Proteins / Q000235:genetics* / Q000378:metabolism; D008875:Middle Aged; D009363:Neoplasm Proteins / Q000235:genetics* / Q000378:metabolism; D011044:Poland; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012307:Risk Factors; D009418:S100 Proteins / Q000235:genetics* / Q000378:metabolism; D012867:Skin / Q000473:pathology; D055815:Young Adult
chemical_list: C418764:CRNN protein, human; C000717249:FLG protein, human; D000091344:Filaggrin Proteins; D005819:Genetic Markers; D008565:Membrane Proteins; D009363:Neoplasm Proteins; D009418:S100 Proteins; D007073:Immunoglobulin E