Common FSNP variants of fourteen Bardet-Biedl syndrome genes and adult body mass

Ruth Z. Birk, Sergey Ermakov, Gregory Livshits*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


Objective Bardet-Biedl syndrome (BBS) is a rare monogenic multi-systemic disorder manifesting with marked obesity. Fourteen BBS genes have been identified to date and additional loci are expected. Mutations of several BBS genes were shown to affect fat cell differentiation. The purpose was to Investigate the association between common polymorphisms in all 14 genes as a group and body weight. Design and Methods We investigated association between tagging single nucleotide polymorphisms (tSNPs) located between 10 kb upstream and downstream from the transcribed sequences of each of 14 BBS genes, and body weight and fat in 2462 adult women from the UK Twins study. Significant results were further tested in a confirmation sample of 2003 women from the same cohort and additionally in the GIANT consortium population (n = 123,865). Results 105 SNPs in 14 BBS genes were selected and tested in the first cohort of women for association with the body weight and fat related phenotypes, i.e. weight, body mass index (BMI), total body fat (assessed by DEXA), total fat/height 2, and total fat/weight. We used principal component (PC) derived using the latter five traits as a primary phenotype for this study. Of the 105 SNPs, 3 variants in BBS9 and BBS11 showed evidence of nominally significant association with elevated body weight and fat. However, none of the associations survived multiple-testing correction. Conclusions The results suggest that common variation in 14 BBS genes (within or adjacent to the genes) are unlikely to have a substantial effect on body weight and fat in the European population.

Original languageEnglish
Pages (from-to)1684-1689
Number of pages6
Issue number8
StatePublished - Aug 2013


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