Association of a Single Nucleotide Polymorphism in a Late Cornified Envelope-like Proline-rich 1 Gene (LELP1) with Atopic Dermatitis.

There is some evidence that genes involved in the pathogenesis of atopic dermatitis, in addition to the filaggrin (FLG) gene, may be located at chromosome region 1q21. The aim of this study was to examine the association of single nucleotide polymorphisms in the region of the late cornified envelope-like proline-rich 1 (LELP1), hornerin (HRNR) and FLG genes with the course and risk of atopic dermatitis. Single nucleotide polymorphisms and mutations were genotyped by PCR restriction fragment length polymorphism and real-time PCR in a group of 152 patients with atopic dermatitis and 104 healthy volunteers. CC genotype and C-allele of LELP1 rs7534334 were found in patients with atopic dermatitis and were associated with elevated levels of serum immunoglobulin E, severity of atopic dermatitis and concomitant asthma. LELP1 rs7534334 enhanced the risk of atopic dermatitis nearly 2.5-fold. This pilot study suggests that rs7534334 SNP, located in the LELP1 region, may be a potential genetic marker for the risk and course of atopic dermatitis.

[1]  P. Korošec,et al.  Filaggrin loss‐of‐function mutations are not associated with atopic dermatitis that develops in late childhood or adulthood , 2015, The British journal of dermatology.

[2]  S. Kežić,et al.  Causes of epidermal filaggrin reduction and their role in the pathogenesis of atopic dermatitis. , 2014, The Journal of allergy and clinical immunology.

[3]  P. Elias,et al.  Mechanisms of abnormal lamellar body secretion and the dysfunctional skin barrier in patients with atopic dermatitis. , 2014, The Journal of allergy and clinical immunology.

[4]  R. Vreeken,et al.  The importance of free fatty acid chain length for the skin barrier function in atopic eczema patients , 2014, Experimental dermatology.

[5]  J. Silverberg,et al.  Adult eczema prevalence and associations with asthma and other health and demographic factors: a US population-based study. , 2013, The Journal of allergy and clinical immunology.

[6]  L. Liang,et al.  A genome-wide association study of atopic dermatitis identifies loci with overlapping effects on asthma and psoriasis , 2013, Human molecular genetics.

[7]  James T. Elder,et al.  High-density genotyping study identifies four new susceptibility loci for atopic dermatitis , 2013, Nature Genetics.

[8]  P. Elias,et al.  Ichthyosis vulgaris: the filaggrin mutation disease , 2013, The British journal of dermatology.

[9]  S. Kežić,et al.  Low frequency of filaggrin null mutations in Croatia and their relation with allergic diseases , 2013, International journal of immunogenetics.

[10]  F. Zimprich,et al.  Association of the chromosome 11q13.5 variant with atopic dermatitis in Austrian patients. , 2013, European journal of dermatology : EJD.

[11]  T. Illig,et al.  Genetic Variation in the Epidermal Transglutaminase Genes Is Not Associated with Atopic Dermatitis , 2012, PloS one.

[12]  Yusuke Nakamura,et al.  Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population , 2012, Nature Genetics.

[13]  D. Hohl,et al.  The human epidermal differentiation complex: cornified envelope precursors, S100 proteins and the ‘fused genes’ family , 2012, Experimental dermatology.

[14]  H. Bisgaard,et al.  Individuals who are homozygous for the 2282del4 and R501X filaggrin null mutations do not always develop dermatitis and complete long‐term remission is possible , 2012, Journal of the European Academy of Dermatology and Venereology : JEADV.

[15]  M. Tang,et al.  Wide spectrum of filaggrin‐null mutations in atopic dermatitis highlights differences between Singaporean Chinese and European populations , 2011, The British journal of dermatology.

[16]  B. Samoliński,et al.  Filaggrin Gene Defects Are Independent Risk Factors for Atopic Asthma in a Polish Population: A Study in ECAP Cohort , 2011, PloS one.

[17]  M. Simon,et al.  Hornerin is a component of the epidermal cornified cell envelopes , 2011, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

[18]  C. Pipper,et al.  Filaggrin gene variants and atopic diseases in early childhood assessed longitudinally from birth , 2010, Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology.

[19]  T. Bieber,et al.  Analysis of four prevalent filaggrin mutations (R501X, 2282del4, R2447X and S3247X) in Austrian and German patients with atopic dermatitis , 2010, Journal of the European Academy of Dermatology and Venereology : JEADV.

[20]  H. Cordell,et al.  Chromosome 11q13.5 variant associated with childhood eczema: An effect supplementary to filaggrin mutations , 2010, The Journal of allergy and clinical immunology.

[21]  Mayte Suárez-Fariñas,et al.  Broad defects in epidermal cornification in atopic dermatitis identified through genomic analysis. , 2009, The Journal of allergy and clinical immunology.

[22]  Jonathan Hadgraft,et al.  Epidermal barrier dysfunction in atopic dermatitis. , 2009, The Journal of investigative dermatology.

[23]  H. Cordell,et al.  Meta-analysis of filaggrin polymorphisms in eczema and asthma: robust risk factors in atopic disease. , 2009, The Journal of allergy and clinical immunology.

[24]  S. Heath,et al.  A common variant on chromosome 11q13 is associated with atopic dermatitis , 2009, Nature Genetics.

[25]  P. Elias.  Skin barrier function , 2008, Current allergy and asthma reports.

[26]  M. Moffatt,et al.  Filaggrin mutations in children with severe atopic dermatitis. , 2007, The Journal of investigative dermatology.

[27]  N. Klopp,et al.  Filaggrin mutations strongly predispose to early-onset and extrinsic atopic dermatitis. , 2007, The Journal of investigative dermatology.

[28]  J. Batra,et al.  Association of a chromosome 1q21 locus in close proximity to a late cornified envelope-like proline-rich 1 (LELP1) gene with total serum IgE levels , 2007, Journal of Human Genetics.

[29]  C. Corrigan,et al.  Lack of filaggrin expression in the human bronchial mucosa. , 2006, The Journal of allergy and clinical immunology.

[30]  R. Fölster-Holst,et al.  Skin barrier function, epidermal proliferation and differentiation in eczema. , 2006, Journal of dermatological science.

[31]  N. Klopp,et al.  Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations. , 2006, The Journal of allergy and clinical immunology.

[32]  Colin N A Palmer,et al.  Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis , 2006, Nature Genetics.

[33]  Rajesh Balkrishnan,et al.  The Burden of Atopic Dermatitis: Impact on the Patient, Family, and Society , 2005, Pediatric dermatology.

[34]  S. Schneider,et al.  Arlequin (version 3.0): An integrated software package for population genetics data analysis , 2005, Evolutionary bioinformatics online.

[35]  K. Kikuchi,et al.  Large‐scale DNA microarray analysis of atopic skin lesions shows overexpression of an epidermal differentiation gene cluster in the alternative pathway and lack of protective gene expression in the cornified envelope , 2005, The British journal of dermatology.

[36]  G. Rajka,et al.  Diagnostic Features of Atopic Dermatitis , 1980, Acta Dermato-Venereologica.

[37]  E. Simpson,et al.  Eczema prevalence in the United States: data from the 2003 National Survey of Children's Health. , 2011, The Journal of investigative dermatology.

[38]  J. Nicolas,et al.  [Pathogenesis of atopic dermatitis]. , 2005, Annales de dermatologie et de venereologie.

[39]  I I Lelis,et al.  [Atopic dermatitis]. , 1980, Vestnik dermatologii i venerologii.