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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)