Identification of a deletion variant in the gene encoding the human alpha(2A)-adrenergic receptor.
OBJECTIVE
The alpha(2)-adrenergic receptors are involved in the effects of catecholamines on energy metabolism. Of three known subtypes with differential expression, alpha(2A)-adrenergic receptors are also localized in adipose tissue where they counteract the lipolytic activity of beta-adrenergic receptors. This study was undertaken to assess whether variants in the alpha(2A)-adrenergic receptor gene are associated with body weight.


METHODS
Single strand conformation polymorphism (SSCP) screening and subsequent sequencing were applied to determine genetic variants in DNA samples from individuals with obesity, those of normal weight and those underweight.


RESULTS
Analysis of the coding region resulted in the identification of an 18 bp deletion, with no other mutation found. Of 429 genotyped subjects, 7 carried the deletion, with no significant differences between lean and obese subjects. A previously identified polymorphism in the promoter of the alpha(2A)-adrenergic receptor gene also did not show an association with any of the tested body weight categories.


CONCLUSIONS
Our data suggest that variants in the alpha(2A)-adrenergic receptor gene are unlikely to contribute to the predisposition for the lean or obese state.
Abteilung Innere Medizin I, Medizinische Klinik und Poliklinik, Universität Heidelberg, Germany. andears_hamann@med.uni-heidelberg.de
A
A
Hamann
C
C
Brieske
J
J
Tafel
P
P
Buttron
B
B
Schwarzloh
H
H
Münzberg
A
A
Hinney
H
H
Mayer
W
W
Siegfried
J
J
Hebebrand
H
H
Greten
P
P
Algenstaedt
R
R
Ziegler
D000293:Adolescent; D000328:Adult; D015992:Body Mass Index; D001835:Body Weight / Q000235:genetics*; D002648:Child; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D014644:Genetic Variation / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009765:Obesity / Q000235:genetics; D018807:Polymorphism, Single-Stranded Conformational; D011401:Promoter Regions, Genetic / Q000235:genetics; D018341:Receptors, Adrenergic, alpha-2 / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics*; D013851:Thinness / Q000235:genetics
C547768:ADRA2A protein, human; D018341:Receptors, Adrenergic, alpha-2