2001:508352

AN

    2001:508352  BIOSIS

DN

    PREV200100508352

TI

    A common hormone-sensitive lipase i6 gene polymorphism is associated
    with decreased human adipocyte lipolytic function. 

AU

    Hoffstedt, Johan [Reprint author]; Arner, Peter; Schalling, Martin;
    Pedersen, Nancy L.; Sengul, Selim; Ahlberg, Susanne; Iliadou, Anastasia;
    Lavebratt, Catharina

CS

    Karolinska Institutet, Huddinge University Hospital, CME, M61, 141 86,
    Stockholm, Sweden
    johan.hoffstedt@medhs.ki.se

SO

    Diabetes, (October, 2001) Vol. 50, No. 10, pp. 2410-2413. print. 
    CODEN: DIAEAZ. ISSN: 0012-1797. 

DT

    Article

LA

    English

ED

    Entered STN: 31 Oct 2001
    Last Updated on STN: 23 Feb 2002

AB

    Hereditary factors may be involved in the pathogenesis of type 2
    diabetes.  A polymorphism in the hormone-sensitive lipase (HSL)
    gene (HSLi6) is associated with obesity and diabetes, although it is
    unknown whether the polymorphism is functional and thereby influences
    lipolysis.  We genotyped 355 apparently healthy non-obese male and female
    subjects for the HSLi6 polymorphism.  Allele 5 was found to be the most
    common allele (allele frequency 0.57).  In 117 of the subjects, we
    measured abdominal subcutaneous fat cell lipolysis induced by drugs acting
    at various steps in the lipolytic cascade.  The lipolysis rate induced by
    norepinephrine isoprenaline (acting on beta-adrenoceptors), forskolin
    (acting on adenylyl cyclase), and dibutyryl cyclic AMP (acting on HSL)
    were all decreased by apprx50% in allele 5 homozygotes, as compared with
    noncarriers.  Heterozygotes showed an intermediate lipolytic rate.  The
    difference in lipolysis rate between genotypes was more pronounced in men
    than in women.  We conclude that allele 5 of the HSLi6 polymorphism is
    associated with a marked decrease in the lipolytic rate of abdominal fat
    cells.  This may in turn contribute to the development of obesity.

CC

    Genetics - Human   03508
    Metabolism - General metabolism and metabolic pathways   13002
    Metabolism - Metabolic disorders   13020
    Endocrine - General   17002

IT

    Major Concepts
       Clinical Endocrinology (Human Medicine, Medical Sciences); Medical
       Genetics (Allied Medical Sciences); Metabolism

IT

    Diseases
       obesity: nutritional disease
       Obesity (MeSH)

IT

    Diseases
       type II diabetes: metabolic disease
       Diabetes Mellitus, Non-Insulin-Dependent (MeSH)

IT

    Miscellaneous Descriptors
       lipolysis

ORGN

    Classifier
       Hominidae   86215
    Super Taxa
       Primates; Mammalia; Vertebrata; Chordata; Animalia
    Organism Name
       human: female, male, patient
    Taxa Notes
       Animals, Chordates, Humans, Mammals, Primates, Vertebrates

GEN

    human HSL gene [human hormone-sensitive lipase gene] (Hominidae)