title: Association of IL-4 and IL-10 gene promoter polymorphisms with common variable immunodeficiency.
abstract: Common variable immunodeficiency (CVID) is a heterogeneous group of disorders, characterized by severe reduction in serum IgG and IgA with normal or low number of B-cells. Interleukin (IL)-4 and IL-10 levels could be altered in CVID patients, while cytokine production could be affected with polymorphisms of gene promoter regions. The allele and genotype frequencies of IL-4 and IL-10 gene promoter polymorphic sites were investigated in 30 CVID patients in comparison with controls. IL-10 GA genotype was the most frequent genotype at position -1082 in CVID patients, whereas IL-10 AA genotype was significantly decreased in the patient group at the same position. For IL-4, TG (-1098) and TC (-33) genotypes were significantly overrepresented in CVID group, while frequencies of IL-4 TT (-1098) and CC (-33) were significantly decreased in the patient group. Frequency of IL-10 ACA and IL4 GCC haplotypes in CVID patients were significantly higher than controls, whilst frequency of IL-10 ACC and IL-4 TCC significantly decreased in the patient group. Considering low frequency of IL-10 ACC low producing haplotype, high production of IL-10 could be explained in CVID patients. High production of IL-4 could also be expected based on haplotypes frequencies of this cytokine gene polymorphisms.
authors.affiliation: Immunology, Asthma and Allergy Research Institute, Children's Medical Center Hospital, Tehran University of Medical Sciences, Iran. rezaei_nima@hbi.ir
authors.forename: Nima
authors.initials: N
authors.lastname: Rezaei
authors.forename: Asghar
authors.initials: A
authors.lastname: Aghamohammadi
authors.forename: Mahdi
authors.initials: M
authors.lastname: Mahmoudi
authors.forename: Yadollah
authors.initials: Y
authors.lastname: Shakiba
authors.forename: Gholam Ali
authors.initials: GA
authors.lastname: Kardar
authors.forename: Maryam
authors.initials: M
authors.lastname: Mahmoudi
authors.forename: Batoul
authors.initials: B
authors.lastname: Moradi
authors.forename: Ali Akbar
authors.initials: AA
authors.lastname: Amirzargar
mesh_terms: D017074:Common Variable Immunodeficiency / Q000453:epidemiology / Q000235:genetics* / Q000276:immunology* / Q000503:physiopathology; D018450:Disease Progression; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D016753:Interleukin-10 / Q000235:genetics* / Q000276:immunology / Q000378:metabolism; D015847:Interleukin-4 / Q000235:genetics* / Q000276:immunology / Q000378:metabolism; D007492:Iran; D008297:Male; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic
chemical_list: D016753:Interleukin-10; D015847:Interleukin-4