title: IL-1 receptor antagonist gene polymorphism in recurrent spontaneous abortion.
abstract: Genetic factors may contribute to the development of an aberrant pro-inflammatory immune response during pregnancy, thereby increasing the risk of some pregnancy-related pathologies such as recurrent spontaneous abortion (RSA). Interleukin 1 receptor antagonist is an important anti-inflammatory molecule encoded by the IL1RN gene, in which an intronic polymorphism has been described. Even though the molecular genetic mechanisms are not understood, this non-coding polymorphism, and especially IL1RN*2, has been associated with several chronic inflammatory and autoimmune diseases. IL1RN*2 is also associated with increased activity of IL-1beta, which is an important pro-inflammatory cytokine. We investigated the genetic variants of IL1RN in 37 Finnish women with RSA and 800 randomly selected Finnish blood donors. The women with RSA showed a significantly increased frequency of genotypes bearing the rare allele IL1RN*3 compared to the blood donors (10.8 vs 2.1%, odds ratio 5.6, 95% CI: 1.5-19.0, P=0.006). Our results suggest that IL1RN polymorphisms may predispose to RSA in a small subgroup of patients.
authors.affiliation: Clinical Microbiology Laboratory, Oulu University Hospital, Oulu, Finland. jari.karhukorpi@oulu.fi
authors.forename: Jari
authors.initials: J
authors.lastname: Karhukorpi
authors.forename: Tarja
authors.initials: T
authors.lastname: Laitinen
authors.forename: Helena
authors.initials: H
authors.lastname: Kivelä
authors.forename: Anja
authors.initials: A
authors.lastname: Tiilikainen
authors.forename: Mikko
authors.initials: M
authors.lastname: Hurme
mesh_terms: D000026:Abortion, Habitual / Q000235:genetics* / Q000276:immunology*; D000328:Adult; D001483:Base Sequence; D016022:Case-Control Studies; D004247:DNA / Q000235:genetics; D005260:Female; D005387:Finland; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D053590:Interleukin 1 Receptor Antagonist Protein; D007375:Interleukin-1 / Q000096:biosynthesis; D008875:Middle Aged; D016017:Odds Ratio; D011110:Polymorphism, Genetic; D011247:Pregnancy; D012795:Sialoglycoproteins / Q000235:genetics*; D015398:Signal Transduction
chemical_list: C507763:IL1RN protein, human; D053590:Interleukin 1 Receptor Antagonist Protein; D007375:Interleukin-1; D012795:Sialoglycoproteins; D004247:DNA