BIOSIS / 1999:49004

AN

    1999:49004  BIOSIS

DN

    PREV199900049004

TI

    The putative role of the hormone-sensitive lipase gene in the
    pathogenesis of type II diabetes mellitus and abdominal obesity. 

AU

    Klannemark, M.; Orho, M.; Langin, D.; Laurell, H.; Holm, C.; Reynisdottir,
    S.; Arner, P.; Groop, L. [Reprint author]

CS

    Wallenberg Lab. Endocrinology Diabetes, Floor 3, UMAS Entrance 46, 205 02
    Malmo, Sweden

SO

    Diabetologia, (Dec., 1998) Vol. 41, No. 12, pp. 1516-1522. print. 
    CODEN: DBTGAJ. ISSN: 0012-186X. 

DT

    Article

LA

    English

ED

    Entered STN: 10 Feb 1999
    Last Updated on STN: 10 Feb 1999

AB

    Impaired lipolysis has been proposed as a pathogenic factor contributing
    to clustering of abdominal obesity and dyslipidaemia in Type II
    (noninsulin-dependent) diabetes mellitus - that is, the metabolic
    syndrome (MSDR).  As this syndrome clusters in families, alterations in
    the hormone-sensitive lipase (HSL) gene could contribute to the
    genetic predisposition to MSDR.  To test this hypothesis we carried out
    population and intrafamily association studies in individuals with MSDR,
    using a polymorphic marker (LIPE) in the HSL gene.  There was a
    significant difference in allele frequency distribution between 235 Type
    II diabetic patients and 146 control subjects (p = 0.002), particularly
    between 78 abdominally obese Type II diabetic patients with MSDR and the
    control group (p = 0.010).  An extended transmission disequilibrium test
    (TDT) showed transmission disequilibrium of 66 alleles to 42 nondiabetic,
    abdominally obese offspring in families with Type II diabetes (p <
    0.05).  A slight difference in allele frequency distribution was seen
    between 71 individuals from the lowest and 71 from the highest tertile of
    isoprenaline-induced lipolysis in fat tissue (p = 0.07).  No missense
    mutations were found with single-strand conformational polymorphism (SSCP)
    in 20 abdominally obese subjects with MSDR.  In conclusion, our population
    and intrafamily association studies suggest that the LIPE marker in the
    HSL gene is in linkage disequilibrium with an allele and/or gene which
    increases susceptibility to abdominal obesity and thereby possibly to Type
    II diabetes.

CC

    Endocrine - General   17002
    Genetics - Human   03508
    Enzymes - General and comparative studies: coenzymes   10802
    Metabolism - Metabolic disorders   13020
    Nutrition - Malnutrition and obesity   13203
    Cardiovascular system - General and methods   14501

IT

    Major Concepts
       Endocrine System (Chemical Coordination and Homeostasis); Genetics;
       Nutrition

IT

    Diseases
       abdominal obesity: nutritional disease
       Obesity (MeSH)

IT

    Diseases
       metabolic syndrome: endocrine disease/pancreas, nutritional disease,
       vascular disease, metabolic disease, Syndrome X, insulin resistance
       syndrome

IT

    Diseases
       non-insulin-dependent diabetes mellitus: endocrine disease/pancreas,
       metabolic disease, pathogenesis, type II diabetes mellitus
       Diabetes Mellitus, Non-Insulin-Dependent (MeSH)

IT

    Chemicals & Biochemicals
       human hormone-sensitive lipase gene [HSL gene]: allele, linkage
       disequilibrium

ORGN

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

RN

    9001-62-1 (LIPASE)
    9004-10-8 (INSULIN)