title: Association between single nucleotide polymorphisms of the interleukin-4 gene and atopic dermatitis.
abstract: Atopic dermatitis (AD) is an inflammatory skin disease in which both genetic and environmental factors seem to be involved. Several studies investigated the association of certain genetic factors with AD in different ethnic groups, but conflicting data were obtained. This study was performed to check the possible association between single nucleotide polymorphisms (SNPs) of interleukin 4 (IL-4) and the IL-4 receptor α chain (IL-4Rα) and AD in a group of Iranian patients. The allele and genotype frequencies of genes encoding for IL-4 and IL-4Rα were investigated in 89 patients with AD in comparison with 139 healthy controls, using methods based on polymerase chain reaction sequence-specific primers. The most frequent alleles of IL-4 in patients were T at -1098 (P<0.001, odds ratio (OR)=2.35), C at -590 (P<0.001, OR=4.84) and C at -33 (P=0.002, OR=2.08). The most frequent genotypes of IL-4 in patients were TT, CC, and CC at positions -1098 (P<0.001, OR=3.59), -590 (P<0.001, OR=31.25) and -33 (P<0.001, OR=3.46), respectively. We found a significant lower frequency of GT at -1098 GT, TC at -590, and TC at -33 in patients. There were no statistically significant differences in the frequency of alleles and genotypes of IL-4Rα gene at position +1902. A strong positive association was seen between TCC haplotype and AD (68% in patients vs. 23.4% in controls, P<0.001, OR=8.91). We detected a significantly lower frequency of TTC, GCC, and TTT haplotypes (P<0.001, OR=0.02, P<0.001, OR=0.40, P<0.001, OR=0.39, respectively) in patients compared to controls. A significant association between the polymorphisms of the IL-4 gene promoter at positions -1098, -590, and -33 and AD was detected in the Iranian population.
authors.forename: Mohammad
authors.initials: M
authors.lastname: Gharagozlou
authors.forename: Nasrin
authors.initials: N
authors.lastname: Behniafard
authors.forename: Ali Akbar
authors.initials: AA
authors.lastname: Amirzargar
authors.forename: Sima
authors.initials: S
authors.lastname: Hosseinverdi
authors.forename: Soheila
authors.initials: S
authors.lastname: Sotoudeh
authors.forename: Elham
authors.initials: E
authors.lastname: Farhadi
authors.forename: Mojdeh
authors.initials: M
authors.lastname: Khaledi
authors.forename: Zahra
authors.initials: Z
authors.lastname: Aryan
authors.forename: Zahra Gholizadeh
authors.initials: ZG
authors.lastname: Moghaddam
authors.forename: Maryam
authors.initials: M
authors.lastname: Mahmoudi
authors.forename: Asghar
authors.initials: A
authors.lastname: Aghamohammadi
authors.affiliation: Nima Rezaei, MD, PhD, Research Center for Immunodeficiencies, Children's Medical Center Hospital, Dr Qarib St, Keshavarz Blvd, Tehran 14194, Iran; rezaei_nima@tums.ac.ir.
authors.forename: Nima
authors.initials: N
authors.lastname: Rezaei
mesh_terms: D000483:Alleles; D016022:Case-Control Studies; D002675:Child, Preschool; D015331:Cohort Studies; D016001:Confidence Intervals; D003876:Dermatitis, Atopic / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D020022:Genetic Predisposition to Disease / Q000453:epidemiology*; D005838:Genotype; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D015994:Incidence; D015847:Interleukin-4 / Q000235:genetics*; D007492:Iran / Q000453:epidemiology; D008297:Male; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011401:Promoter Regions, Genetic / Q000235:genetics; D012016:Reference Values; D018570:Risk Assessment
chemical_list: C508598:IL4 protein, human; D015847:Interleukin-4