title: Molecular screening of the 11beta-HSD1 gene in men characterized by the metabolic syndrome.
abstract: Adipose tissue type 1 11beta-hydroxysteroid dehydrogenase (11beta-HSD1), which generates hormonally active cortisol from inactive cortisone, has been shown to play a central role in adipocyte differentiation and abdominal obesity-related metabolic complications. The objective was to investigate whether genetic variations in the human 11beta-HSD1 gene are associated with the metabolic syndrome among French-Canadian men. We sequenced all exons, the exon-intron splicing boundaries, and 5' and 3' regions of the human 11beta-HSD1 gene in 36 men with the metabolic syndrome, as defined by the National Cholesterol Education Program-Adult Treatment Panel III, and two controls. Three intronic sequence variants were identified: two single-nucleotide polymorphisms in intron 3 (g.4478T>G) and intron 4 (g.10733G>C) and one insertion in intron 3 (g.4437-4438insA). The relative allele frequency was 19.6%, 22.1%, and 19.6% for the g.4478G, g.10733C, and g.4438insA alleles, respectively. One single-nucleotide polymorphism was identified in exon 6 (c.744G>C or G248G). The frequency of the c.744C allele was only 0.46% in a sample of 217 men. Variants were not associated with components of the metabolic syndrome except for plasma apolipoprotein B levels. In conclusion, molecular screening of the 11beta-HSD1 gene did not reveal any sequence variations that can significantly contribute to the etiology of the metabolic syndrome among French-Canadians.
authors.affiliation: Lipid Research Center, CHUQ-CHUL, 2705 Laurier Boulevard, TR-93, Ste-Foy, Quebec, Canada G1V 4G2.
authors.forename: Julie
authors.initials: J
authors.lastname: Robitaille
authors.forename: Charles
authors.initials: C
authors.lastname: Brouillette
authors.forename: Alain
authors.initials: A
authors.lastname: Houde
authors.forename: Jean-Pierre
authors.initials: JP
authors.lastname: Després
authors.forename: André
authors.initials: A
authors.lastname: Tchernof
authors.forename: Marie-Claude
authors.initials: MC
authors.lastname: Vohl
mesh_terms: D043205:11-beta-Hydroxysteroid Dehydrogenase Type 1 / Q000235:genetics*; D000328:Adult; D005091:Exons; D005787:Gene Frequency; D014644:Genetic Variation; D006801:Humans; D008297:Male; D008403:Mass Screening; D024821:Metabolic Syndrome / Q000235:genetics*; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide
chemical_list: D043205:11-beta-Hydroxysteroid Dehydrogenase Type 1