title: Association between genes encoding components of the IL-4/IL-4 receptor pathway and dermatitis in children.
abstract: OBJECTIVE
  To determine whether IL-4, IL-4Rα and STAT6 polymorphisms are associated with susceptibility to dermatitis in Egyptian children.
  
  
  METHODS
  We genotyped three groups of children, consisting of 106 atopic dermatitis (AD) children, 95 non-AD children, and 100 of healthy controls, for IL-4 (-590 C/T), (-33 C/T), IL-4Rα (I50V), (Q576R) and STAT6 (2964 G/A), (2892 C/T) gene polymorphisms using PCR-RFLP assay. Total serum IgE and serum IL-4 levels were detected by ELISA.
  
  
  RESULTS
  There was a non-significant association of IL-4 -590 C/T, -33 C/T polymorphisms in the children with non-AD or those with AD when compared with the controls. We identified a significant association between IL-4Rα I50V, Q576R polymorphisms and dermatitis susceptibility in AD (p=0.002, <0.001 respectively), whereas no such association was observed in non-AD group (p=0.52, 0.99 respectively). A significant association between STAT6 polymorphisms and both types of dermatitis was found. Patients who were carriers of IL4 -590C, IL-4Rα I50V G, STAT6 2964 A and STAT6 2892 T had an increased risk of AD [OR and 95% CI: 3.2 (2.5-4.2), p=0.005]. Furthermore, there was no relation between each polymorphism and serum IL-4 level (p>0.05 for each) while homozygosity for the risk alleles of IL-4, IL-4Rα and STAT6 SNPs were significantly associated with increased total IgE levels in all subjects.
  
  
  CONCLUSIONS
  In Egyptian children, the IL-4Rα and the STAT6 polymorphism may play a role in susceptibility to AD. In addition, gene-gene interaction between the IL-4, the IL-4Rα and the STAT6 significantly increases an individual's susceptibility to AD.
authors.affiliation: Medical Biochemistry Department, Faculty of Medicine, Zagazig University, Zagazig, Egypt; Medical Laboratories Department, Faculty of Applied Medical Science, El-Taif University, Saudi Arabia. Electronic address: yousrihussein@hotmail.com.
authors.forename: Yousri M
authors.initials: YM
authors.lastname: Hussein
authors.affiliation: Medical Biochemistry Department, Faculty of Medicine, Zagazig University, Zagazig, Egypt. Electronic address: sallyshalaby@hotmail.com.
authors.forename: Sally M
authors.initials: SM
authors.lastname: Shalaby
authors.affiliation: Dermatoloogy Department, Faculty of Medicine, Zagazig University, Zagazig, Egypt.
authors.forename: Amani
authors.initials: A
authors.lastname: Nassar
authors.affiliation: Family Medicine Department, Faculty of Applied Medical Science, El-Taif University, Saudi Arabia.
authors.forename: Saad S
authors.initials: SS
authors.lastname: Alzahrani
authors.affiliation: Family Medicine Department, Faculty of Applied Medical Science, El-Taif University, Saudi Arabia.
authors.forename: Ayman S
authors.initials: AS
authors.lastname: Alharbi
authors.affiliation: Pediatric Department, Faculty of Medicine, Zagazig University, Zagazig, Egypt.
authors.forename: Maha
authors.initials: M
authors.lastname: Nouh
mesh_terms: D000483:Alleles; D002648:Child; D002675:Child, Preschool; D003872:Dermatitis / Q000235:genetics* / Q000276:immunology / Q000378:metabolism; D003876:Dermatitis, Atopic / Q000235:genetics / Q000276:immunology / Q000378:metabolism; D004534:Egypt; D004843:Epistasis, Genetic; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007073:Immunoglobulin E / Q000097:blood / Q000276:immunology; D015847:Interleukin-4 / Q000235:genetics* / Q000378:metabolism; D053662:Interleukin-4 Receptor alpha Subunit / Q000235:genetics / Q000378:metabolism; D011110:Polymorphism, Genetic; D019948:Receptors, Interleukin-4 / Q000097:blood / Q000235:genetics* / Q000378:metabolism; D050800:STAT6 Transcription Factor / Q000235:genetics; D015398:Signal Transduction
chemical_list: D053662:Interleukin-4 Receptor alpha Subunit; D019948:Receptors, Interleukin-4; D050800:STAT6 Transcription Factor; D015847:Interleukin-4; D007073:Immunoglobulin E
keywords: Dermatitis; IL-4Rα; Interleukin-4; STAT6; Single nucleotide polymorphism (SNP)