Source:http://linkedlifedata.com/resource/pubmed/id/15536220
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
10
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pubmed:dateCreated |
2004-11-10
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pubmed:abstractText |
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.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Oct
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pubmed:issn |
1071-7323
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
12
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1570-5
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pubmed:dateRevised |
2008-11-21
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pubmed:meshHeading |
pubmed-meshheading:15536220-11-beta-Hydroxysteroid Dehydrogenase Type 1,
pubmed-meshheading:15536220-Adult,
pubmed-meshheading:15536220-Exons,
pubmed-meshheading:15536220-Gene Frequency,
pubmed-meshheading:15536220-Genetic Variation,
pubmed-meshheading:15536220-Humans,
pubmed-meshheading:15536220-Male,
pubmed-meshheading:15536220-Mass Screening,
pubmed-meshheading:15536220-Metabolic Syndrome X,
pubmed-meshheading:15536220-Middle Aged,
pubmed-meshheading:15536220-Polymorphism, Single Nucleotide
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pubmed:year |
2004
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pubmed:articleTitle |
Molecular screening of the 11beta-HSD1 gene in men characterized by the metabolic syndrome.
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pubmed:affiliation |
Lipid Research Center, CHUQ-CHUL, 2705 Laurier Boulevard, TR-93, Ste-Foy, Quebec, Canada G1V 4G2.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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