title: Association between trefoil factor 3 gene variants and idiopathic recurrent spontaneous abortion.
abstract: Trefoil factor 3 (TFF3) gene is an inflammatory mediator expressed in human endometrium during the window of implantation. The aim of this study was to evaluate the possible genetic association of TFF3 variants in recurrent spontaneous abortion. Women with a history of recurrent spontaneous abortion (n = 164) and healthy pregnant women (n = 143) were genotyped for five TFF3 polymorphisms (rs225439 G/A, rs533093 C/T, rs225361 A/G, rs11701143 T/C and rs77436142 G/C). In addition, haplotypes formed within the gene were analysed. Within the recurrent spontaneous abortion group, women who at some point had given birth and childless women had 4.19 ± 1.75 and 5.34 ± 3.42 consecutive spontaneous abortions, respectively. Women who had experience recurrent spontaneous abortions had a lower allele frequency of the rs11701143 promoter region minor C allele compared with fertile women (0.02 versus 0.05, P = 0.015). Patients with rs225361 AG genotype had significantly more successful pregnancies before spontaneous abortion than those with homozygous AA and GG genotypes (P = 0.014). No significant differences in haplotype frequencies between patients and controls were detected. Possible genetic risk factors identified that might contribute to the pathogenesis of idiopathic recurrent spontaneous abortion were TFF3 gene variants.
authors.affiliation: Department of Women's and Children's Health, Uppsala University, Uppsala University Hospital, Uppsala 751 85, Sweden.
authors.forename: Sally
authors.initials: S
authors.lastname: Haroun
authors.affiliation: Competence Centre on Reproductive Medicine and Biology, Tartu, Estonia; Department of Paediatrics, School of Medicine, University of Granada, Granada, Spain.
authors.forename: Signe
authors.initials: S
authors.lastname: Altmäe
authors.affiliation: Department of Women's and Children's Health, Uppsala University, Uppsala University Hospital, Uppsala 751 85, Sweden.
authors.forename: Helena
authors.initials: H
authors.lastname: Karypidis
authors.affiliation: Department of Epidemiology, Erasmus University Medical Center, Rotterdam, The Netherlands.
authors.forename: Maris
authors.initials: M
authors.lastname: Kuningas
authors.affiliation: CLINTEC, Obstetrics and Gynecology, Karolinska University Hospital, Huddinge, Stockholm 141 86, Sweden.
authors.forename: Britt-Marie
authors.initials: BM
authors.lastname: Landgren
authors.affiliation: Department of Women's and Children's Health, Uppsala University, Uppsala University Hospital, Uppsala 751 85, Sweden.
authors.forename: Helena
authors.initials: H
authors.lastname: Akerud
authors.affiliation: Obstetrik och Gynekologi, Danderyds Sjukhus, Stockholm 182 88, Sweden.
authors.forename: Lottie
authors.initials: L
authors.lastname: Skjöldebrand-Sparre
authors.affiliation: Obstetrik och Gynekologi, Danderyds Sjukhus, Stockholm 182 88, Sweden.
authors.forename: Frida
authors.initials: F
authors.lastname: Hosseini
authors.affiliation: Obstetrics and Gynecology, Karolinska University Hospital, Solna, Stockholm 17176, Sweden.
authors.forename: Katarina
authors.initials: K
authors.lastname: Bremme
authors.affiliation: Department of Women's and Children's Health, Uppsala University, Uppsala University Hospital, Uppsala 751 85, Sweden.
authors.forename: Inger
authors.initials: I
authors.lastname: Sundström-Poromaa
authors.affiliation: Department of Women's and Children's Health, Uppsala University, Uppsala University Hospital, Uppsala 751 85, Sweden. Electronic address: anneli.stavreus-evers@kbh.uu.se.
authors.forename: Anneli
authors.initials: A
authors.lastname: Stavreus-Evers
mesh_terms: D000022:Abortion, Spontaneous / Q000235:genetics*; D004717:Endometrium / Q000378:metabolism; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D005838:Genotype; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D010455:Peptides / Q000235:genetics* / Q000378:metabolism; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011247:Pregnancy; D013548:Sweden; D000071165:Trefoil Factor-3
chemical_list: D010455:Peptides; C082495:TFF3 protein, human; D000071165:Trefoil Factor-3
keywords: haplotype; intestinal trefoil factor; polymorphism; recurrent miscarriage; trefoil factor