title: [Polymorphism of Fc gamma RIIIA-158F/V gene and promoter region of IL-10 gene in systemic lupus erythematosus in Kazakhs].
abstract: OBJECTIVE
  To assess the role of allele polymorphism of genes Fc gamma RIII and IL-10 in systemic lupus erythematosus (SLR) in a homogeneous (stratified by nationality) Kazakh population sample.
  
  
  METHODS
  Polymorphism of genes Fc gamma RIIIA and IL-10 was studied in 49 patients SLE patients and 81 healthy subjects (control group). Detection of two allele variants of gene Fc gamma RIIIA (alleles F and V) caused by point mutation in position 559 was performed by polymerase chain reaction (PCR) in the amplification refractory mutation system. Genetic changeability of IL-10 gene promotion site due to point mutation in position 627 (alleles 1 and 2) was investigated by polymorphism of restricted fragment lengths using restrictase RsaI.
  
  
  RESULTS
  Significant differences in the distribution rates of genes Fc gamma RIIIA and IL-10 were revealed in SLE patients versus controls. Alleles F and -627A (1), including homozygous ones, are genes predisposing to development of SLE while variants of the markers V and -627 (2) are protecting genes. If a SLE patient's genotype combines alleles F of gene Fc gamma RIII and alleles 1 of gene IL-10 (F/F + 1/1), this patient has an 8 times higher risk to develop SLE.
  
  
  CONCLUSIONS
  Polymorphism of genes Fc gamma RIIIA and IL-10 is associated with predisposition to development of SLE in Kazakh population. The analysis of combined genotypes of the studied genes suggests a synergic action of genes Fc gamma RIIIA and IL-10 on the risk to develop SLE.
authors.forename: I A
authors.initials: IA
authors.lastname: Guseva
authors.forename: Zh E
authors.initials: ZhE
authors.lastname: Omarbekova
authors.forename: V A
authors.initials: VA
authors.lastname: Miakotkin
mesh_terms: D000328:Adult; D000483:Alleles; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006720:Homozygote; D006801:Humans; D016753:Interleukin-10 / Q000235:genetics*; D007623:Kazakhstan; D008180:Lupus Erythematosus, Systemic / Q000235:genetics* / Q000276:immunology; D008297:Male; D008875:Middle Aged; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic; D017452:Receptors, IgG / Q000235:genetics*; D012307:Risk Factors
chemical_list: D017452:Receptors, IgG; D016753:Interleukin-10