title: Early pregnancy loss in celiac women: The role of genetic markers of thrombophilia.
abstract: BACKGROUND
  Adverse pregnancy outcomes are more frequent in celiac than in non-celiac women.
  
  
  OBJECTIVE
  To investigate a possible role of genetic prothrombotic variants in early pregnancy loss of celiac women.
  
  
  METHODS
  Thirty-nine celiac women who had experienced early pregnancy losses (at least two losses within the first 3 months of pregnancy), and 72 celiac women with a history of one or more normal pregnancies and no pregnancy loss (controls) entered the study, at the moment of diagnosis for celiac disease. A clinical history was obtained from each woman. DNA from leukocytes was tested for: factor V Leiden (mutation G1691A), factor V R2 (H1299R), factor II (G20210A), methylenetetrahydrofolate reductase (MTHFR) (C677T and A1298C), beta-fibrinogen (-455 G>A), PAI-1 alleles 4G/5G, factor XIII (V34L), and HPA-1 (L33P).
  
  
  RESULTS
  Age at diagnosis was significantly higher (p=0.002) in the celiac women with pregnancy losses than in controls. Of the gene variants studied, the allelic frequency of 4G variant of PAI-1, and the frequency of mutant genotypes were significantly more frequent in the group of celiac women with early pregnancy loss (p=0.00003 and 0.028, respectively). Surprisingly, the beta-fibrinogen -455 G>A genotype distribution (but not the allelic frequency of the variant allele) significantly differed between the two groups, since variant genotypes were more frequent in the control group (p=0.009).
  
  
  CONCLUSIONS
  The 4G variant of the PAI-I gene may predispose to miscarriage a subset of celiac women; these data should be verified on larger populations.
authors.affiliation: Gastroenterologia, Dipartimento di Medicina Clinica e Sperimentale, University of Naples Federico II, Naples, Italy. ciacci@unina.it
authors.forename: C
authors.initials: C
authors.lastname: Ciacci
authors.forename: R
authors.initials: R
authors.lastname: Tortora
authors.forename: O
authors.initials: O
authors.lastname: Scudiero
authors.forename: R
authors.initials: R
authors.lastname: Di Fiore
authors.forename: F
authors.initials: F
authors.lastname: Salvatore
authors.forename: G
authors.initials: G
authors.lastname: Castaldo
mesh_terms: D000022:Abortion, Spontaneous / Q000235:genetics*; D000328:Adult; D016022:Case-Control Studies; D002446:Celiac Disease / Q000235:genetics*; D005260:Female; D005819:Genetic Markers; D005838:Genotype; D006801:Humans; D017395:Plasminogen Activator Inhibitor 1 / Q000235:genetics; D011247:Pregnancy; D011250:Pregnancy Complications, Hematologic / Q000235:genetics*; D019851:Thrombophilia / Q000235:genetics*
chemical_list: D005819:Genetic Markers; D017395:Plasminogen Activator Inhibitor 1