title: A frequent thrombomodulin amino acid dimorphism is not associated with thrombophilia.
abstract: We report a C/T dimorphism in the thrombomodulin (TM) gene that predicts an Ala455----Val replacement in the sixth EGF-like domain of TM. This dimorphism has allelic frequencies of 82 (Ala) and 18% (Val) in a normal population. In a group of protein C deficient patients and in a group of subjects with unexplained thrombophilia the allelic frequencies were found to be the same as in the normal population. This indicates that with respect to thrombophilia the dimorphism is essentially neutral.
authors.affiliation: Department of Hematology, University Medical Center Leiden, The Netherlands.
authors.forename: P A
authors.initials: PA
authors.lastname: van der Velden
authors.forename: T
authors.initials: T
authors.lastname: Krommenhoek-Van Es
authors.forename: C F
authors.initials: CF
authors.lastname: Allaart
authors.forename: R M
authors.initials: RM
authors.lastname: Bertina
authors.forename: P H
authors.initials: PH
authors.lastname: Reitsma
mesh_terms: D000596:Amino Acids / Q000235:genetics; D001483:Base Sequence; D004198:Disease Susceptibility; D005784:Gene Amplification / Q000235:genetics; D006801:Humans; D008969:Molecular Sequence Data; D009693:Nucleic Acid Hybridization; D009841:Oligonucleotides / Q000235:genetics; D011110:Polymorphism, Genetic / Q000235:genetics*; D011956:Receptors, Cell Surface / Q000235:genetics*; D018179:Receptors, Thrombin; D013917:Thrombin; D013927:Thrombosis / Q000235:genetics*
chemical_list: D000596:Amino Acids; D009841:Oligonucleotides; D011956:Receptors, Cell Surface; D018179:Receptors, Thrombin; D013917:Thrombin