Bardet-Biedl syndrome 1 genotype and obesity in the Newfoundland population.
OBJECTIVE
Obesity is one of the primary clinical features of Bardet-Biedl Syndrome (BBS), a genetically heterogeneous disorder that is usually inherited as an autosomal recessive trait. It has been suggested that heterozygous carriers of BBS are predisposed to obesity. We set out to identify the common mutation in BBS1 families from southwest Newfoundland and to examine the relationship between this mutation and obesity in the general population.


METHODS
We genotyped BBS1 families from Newfoundland to determine the nature of the mutation causing BBS in this population. We then screened 200 obese individuals (average body mass index (BMI)=37.9 kg/m2; average waist to hip ratio=0.935; average waist=113.8 cm) and 200 ethnically matched, unrelated, controls (average BMI=25.0 kg/m2; average waist to hip ratio=0.896; average waist=86.9 cm) from the same geographic region for the presence of this mutation.


RESULTS
All affected members of the six Newfoundland BBS1 families were homozygous for the most common BBS1 mutation (M390R). This mutation was found in the heterozygous state in three of the 200 obese individuals and also in three of the 200 matched controls.


CONCLUSIONS
The high frequency of BBS1 in Newfoundland appears to be the result of a founder event. Our data do not support the hypothesis that the M390R BBS1 mutation plays a significant role in the frequency of obesity in the general public in Newfoundland.
Department of Molecular Biology and Biochemistry, Simon Fraser University, Burnaby, British Columbia, Canada.
Y
Y
Fan
P
P
Rahman
L
L
Peddle
D
D
Hefferton
N
N
Gladney
S J
SJ
Moore
J S
JS
Green
P S
PS
Parfrey
W S
WS
Davidson
D000328:Adult; D000368:Aged; D000886:Anthropometry; D020788:Bardet-Biedl Syndrome / Q000235:genetics*; D001483:Base Sequence; D016022:Case-Control Studies; D005260:Female; D018703:Founder Effect; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D008297:Male; D008869:Microtubule-Associated Proteins; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D009523:Newfoundland and Labrador; D009765:Obesity / Q000235:genetics*; D011506:Proteins / Q000235:genetics; D017422:Sequence Analysis, DNA
C464790:Bbs1 protein, human; D008869:Microtubule-Associated Proteins; D011506:Proteins