title: Interleukin-10 polymorphisms in Spanish IgA deficiency patients: a case-control and family study.
abstract: BACKGROUND
  IgA deficiency (IgAD) is the most common primary immunodeficiency in Caucasians. Genetic and environmental factors are suspected to be involved in the development of the disease. Interleukin-10 (IL-10) is a cytokine with stimulatory activity on immunoglobulin production and it may be an important regulator in IgAD pathogenesis. The IL-10 gene contains several single nucleotide polymorphisms (SNPs) and two polymorphic microsatellites located in the 5'-flanking region. Our aim was to ascertain if any of these polymorphic markers are associated or linked to IgAD in Spanish patients.
  
  
  METHODS
  We genotyped 278 patients with IgAD and 573 ethnically matched controls for the microsatellites IL-10R and IL-10G and for three single nucleotide polymorphisms at positions -1082, -819 and -592 in the proximal promoter of the gene. We also included in this study the parents of 194 patients in order to study the IL-10 haplotypes transmitted and not transmitted to the affected offspring.
  
  
  RESULTS
  The only allele where a significant difference was observed in the comparison between IgA deficiency patients and controls was the IL-10G12 allele (OR = 1.58 and p = 0.021). However, this p value could not withstand a Bonferroni correction. None of the IL-10R or promoter SNP alleles was found at a different frequency when patients were compared with controls.
  
  
  CONCLUSIONS
  Our data do not show any significant difference in IL-10 polymorphism frequencies between control and IgAD patient samples. Their haplotype distribution among patients and controls was also equivalent and therefore these microsatellites and SNPs do not seem to influence IgAD susceptibility.
authors.affiliation: Clinical Immunology Department, Hospital Clínico San Carlos, Madrid. ortizesa@yahoo.es
authors.forename: Javier
authors.initials: J
authors.lastname: Ortiz
authors.forename: Miguel
authors.initials: M
authors.lastname: Fernández-Arquero
authors.forename: Elena
authors.initials: E
authors.lastname: Urcelay
authors.forename: Raquel
authors.initials: R
authors.lastname: López-Mejías
authors.forename: Antonio
authors.initials: A
authors.lastname: Ferreira
authors.forename: Gumersindo
authors.initials: G
authors.lastname: Fontán
authors.forename: Emilio G
authors.initials: EG
authors.lastname: de la Concha
authors.forename: Alfonso
authors.initials: A
authors.lastname: Martínez
mesh_terms: D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D017098:IgA Deficiency / Q000208:ethnology / Q000235:genetics*; D040582:Inheritance Patterns; D016753:Interleukin-10 / Q000235:genetics*; D008297:Male; D018895:Microsatellite Repeats; D010641:Phenotype; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D013030:Spain; D044465:White People / Q000235:genetics
chemical_list: D016753:Interleukin-10