title: Association of a Single Nucleotide Polymorphism in a Late Cornified Envelope-like Proline-rich 1 Gene (LELP1) with Atopic Dermatitis.
abstract: 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.
authors.affiliation: Department of Dermatology, Venereology and Allergology, Medical University of Gdańsk, 80-211 Gdańsk, Poland. mtrzeciak@gumed.edu.pl.
authors.forename: Magdalena
authors.initials: M
authors.lastname: Trzeciak
authors.forename: Martyna
authors.initials: M
authors.lastname: Wesserling
authors.forename: Tomasz
authors.initials: T
authors.lastname: Bandurski
authors.forename: Jolanta
authors.initials: J
authors.lastname: Glen
authors.forename: Roman
authors.initials: R
authors.lastname: Nowicki
authors.forename: Tadeusz
authors.initials: T
authors.lastname: Pawelczyk
mesh_terms: D000293:Adolescent; D000328:Adult; D015415:Biomarkers / Q000097:blood; D016022:Case-Control Studies; D002648:Child; D055233:Cornified Envelope Proline-Rich Proteins / Q000235:genetics*; D003876:Dermatitis, Atopic / Q000097:blood / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D000091344:Filaggrin Proteins; D056726:Genetic Association Studies; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D006801:Humans; D007073:Immunoglobulin E / Q000097:blood; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D010865:Pilot Projects; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D012720:Severity of Illness Index; D055815:Young Adult
chemical_list: D015415:Biomarkers; D055233:Cornified Envelope Proline-Rich Proteins; C000717249:FLG protein, human; D000091344:Filaggrin Proteins; D005819:Genetic Markers; C520829:LELP1 protein, human; D007073:Immunoglobulin E