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Common fSNP variants of fourteen Bardet‐Biedl syndrome genes and adult body mass
Author(s) -
Birk Ruth Z,
Ermakov Sergey,
Livshits Gregory
Publication year - 2013
Publication title -
the faseb journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.709
H-Index - 277
eISSN - 1530-6860
pISSN - 0892-6638
DOI - 10.1096/fasebj.27.1_supplement.630.15
Subject(s) - obesity , single nucleotide polymorphism , cohort , genetics , body mass index , biology , body fat percentage , population , phenotype , candidate gene , genetic association , bardet–biedl syndrome , medicine , gene , endocrinology , genotype , environmental health
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. To date, association between common polymorphisms in all 14 genes as a group and body weight has not been tested. Study objective and method We investigated association between tagging single nucleotide polymorphisms (tSNPs) 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 for association with body weight and fat phenotypes, i.e. weight, BMI, total body fat (assessed by DEXA), total fat/height2, 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. Conclusion The results suggest that common variation in 14 BBS genes are unlikely to have a substantial effect on body weight and fat in the European population