title: Genomics of steroid hormones: in silico analysis of nucleotide sequence variants (polymorphisms) of the enzymes involved in the biosynthesis and metabolism of steroid hormones.
abstract: Alterations of steroid hormone biosynthesis and metabolism are suspected to be involved in the pathogenesis of several diseases. Several polymorphisms of the enzymes involved in these processes have already been described and some could be associated with certain diseases. We attempted to examine the sequence variants of these genes in order to find novel variants by an in silico analysis. We analyzed the known human nucleotide sequences of the enzymes p450 side-chain cleavage enzyme, steroid 17-alpha-hydroxylase/17,20-lyase, 3-beta-hydroxysteroid dehydrogenase types 1 and 2, 21-hydroxylase, 11-beta-hydroxylase, aldosterone synthase, aromatase, 11-beta-hydroxysteroid dehydrogenase types 1 and 2, steroid 5-alpha-reductase types 1 and 2, steroid 5-beta-reductase, dehydroepiandrosterone sulfotransferase, 17-beta-hydroxysteroid dehydrogenase types 1-3. The analysis was performed using the National Center for Biotechnology Information Database by the search tool blastn. We found numerous sequence variants in both coding and non-coding sequences. The majority of these sequence variants have already been described, nevertheless, some appear as novel variants. Some of these may also have functional significance. We hypothesize over the possible significance of these findings and briefly review the available literature.
authors.affiliation: 2nd Department of Medicine, Faculty of Medicine, Semmelweis University, Szentkirályi Street 46, 1088 Budapest, Hungary.
authors.forename: Peter
authors.initials: P
authors.lastname: Igaz
authors.forename: Erna
authors.initials: E
authors.lastname: Pap
authors.forename: Attila
authors.initials: A
authors.lastname: Patócs
authors.forename: András
authors.initials: A
authors.lastname: Falus
authors.forename: Zsolt
authors.initials: Z
authors.lastname: Tulassay
authors.forename: Károly
authors.initials: K
authors.lastname: Rácz
mesh_terms: D001483:Base Sequence / Q000235:genetics; D016208:Databases, Factual; D014644:Genetic Variation; D023281:Genomics; D006728:Hormones / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D016366:Open Reading Frames / Q000235:genetics; D011110:Polymorphism, Genetic; D013250:Steroid Hydroxylases / Q000235:genetics* / Q000378:metabolism; D013256:Steroids / Q000378:metabolism*; D020506:Untranslated Regions / Q000235:genetics / Q000378:metabolism
chemical_list: D006728:Hormones; D013256:Steroids; D020506:Untranslated Regions; D013250:Steroid Hydroxylases