title: The G-to-T point mutation in codon 34 of the factor XIII gene and the risk of pre-eclampsia.
abstract: A G-to-T point mutation in exon 2 of the FXIII A-subunit gene results in a leucine rather than valine at amino acid position 34 of the factor XIII molecule. The presence of leucine has been associated with a reduced risk of both arterial and venous thrombosis. We examined the prevalence of this point mutation in 102 cases of pre-eclampsia and 208 matched control subjects, as inherited and acquired risk factors for arterial and venous thrombosis are associated with an increased risk of pre-eclampsia. The GT genotype was observed in 38% of controls and 29.4% of cases and the TT genotype was observed in 6.7% of controls and 5.9% of cases. In subjects heterozygous for the T genotype (GT) the relative risk of pre-eclampsia was 0.7 [95% confidence interval (CI95 ) 0.4-1.1] when compared with the GG genotype. For subjects homozygous for the T allele the relative risk for pre-eclampsia was 0.8 (CI95 0.3-2.1) when compared with the GG genotype. The risk associated with the T allele in the heterozygous and homozygous forms compared with the GG genotype was 0.7 (CI95 0.4-1.1). We conclude that the presence of leucine at this site is not associated with a protection against pre-eclampsia to the magnitude of that reported in other thrombotic disease.
authors.affiliation: Department of Transfusion Medicine, Ninewells Hospital Dundee, Glasgow, UK. peter.clark@snbts.csa.scot.nhs.uk
authors.forename: Peter
authors.initials: P
authors.lastname: Clark
authors.forename: Dilys J
authors.initials: DJ
authors.lastname: Freeman
authors.forename: Elani
authors.initials: E
authors.lastname: Streja
authors.forename: Naveed
authors.initials: N
authors.lastname: Sattar
authors.forename: Isobel D
authors.initials: ID
authors.lastname: Walker
authors.forename: Ian A
authors.initials: IA
authors.lastname: Greer
mesh_terms: D000328:Adult; D000483:Alleles; D019943:Amino Acid Substitution; D003062:Codon / Q000235:genetics*; D005176:Factor XIII / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007930:Leucine / Q000235:genetics; D016017:Odds Ratio; D017354:Point Mutation; D011225:Pre-Eclampsia / Q000235:genetics*; D011247:Pregnancy; D012307:Risk Factors; D014633:Valine / Q000235:genetics
chemical_list: D003062:Codon; D005176:Factor XIII; D007930:Leucine; D014633:Valine