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Bardet–Biedl syndrome 1 genotype and obesity in the Newfoundland population

International Journal of Obesity volume 28, pages 680–684 (2004)Cite this article

Abstract

BACKGROUND AND OBJECTIVES: 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 AND SUBJECTS: 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.

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Acknowledgements

We thank all members of the BBS families and the volunteers who participated in this study. Financial support for this project was provided by the Canadian Institutes of Health Research, the Janeway Foundation, Memorial University Opportunities Fund, the Arthritis Society of Canada and Newfound Genomics.

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Authors and Affiliations

  1. Department of Molecular Biology and Biochemistry, Simon Fraser University, Burnaby, British Columbia, Canada

    Y Fan & W S Davidson

  2. Newfound Genomics, St John's, Newfoundland, Canada

    P Rahman, L Peddle, D Hefferton & N Gladney

  3. Faculty of Medicine, Health Sciences Centre, Memorial University, St John's, Newfoundland, Canada

    P Rahman, S J Moore, J S Green & P S Parfrey

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  1. Y Fan
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Correspondence to W S Davidson.

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Fan, Y., Rahman, P., Peddle, L. et al. Bardet–Biedl syndrome 1 genotype and obesity in the Newfoundland population. Int J Obes 28, 680–684 (2004). https://doi.org/10.1038/sj.ijo.0802601

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