View source for 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)