No important role for genetic variation in the Chibby gene in monogenic and complex obesity

Program: Abstracts - Orals, Featured Poster Presentations, and Posters
Session: SAT 697-707-Obesity Pathophysiology
Saturday, June 15, 2013: 1:45 PM-3:45 PM
Expo Halls ABC (Moscone Center)

Poster Board SAT-704
Jasmijn K Van Camp*1, Doreen Zegers1, Stijn L Verhulst2, Kim Van Hoorenbeeck2, Guy G Massa3, An Verrijken2, Kristine N Desager2, Luc F Van Gaal4, Wim Van Hul5 and Sigri Beckers1
1University of Antwerp, Antwerp, Belgium, 2Antwerp University Hospital, Antwerp, Belgium, 3Jessa Ziekenhuis, Hasselt, Belgium, 4Antwerp Univ Hosp, Edegem, Belgium, 5Univ ersityof Antwerp, 2610 Antwerp, Belgium
Background: Chibby (CBY) has been identified as a potent proadipogenic factor required for adipocyte differentiation. It has been shown that CBY inhibits the canonical Wnt pathway, and therefore promotes the development of new fat cells.

Objective: Investigate the contribution of rare and common genetic variation in CBY to the development of human obesity.

Methods: A mutation analysis was performed on a total of 566 obese patients and 432 lean individuals. To investigate the involvement of CBY in complex obesity, we performed a genetic association analysis of the entire CBY gene region on 1011 obese individuals and 523 control samples.

Results: Four rare, novel variants were identified in either obese patients or lean control subjects, among which two non-synonymous variations and one frameshift mutation.  In addition, four previously reported CBY variants were found. In the association analysis, logistic and linear regression showed no association between common genetic variation in CBY and obesity parameters.

Conclusions: Several novel variations were found, but no definite role in the pathogenesis of obesity could be confirmed. Results from the association analysis suggest that common variation in CBY is not a cause for obesity in the Belgian population.

Nothing to Disclose: JKV, DZ, SLV, KV, GGM, AV, KND, LFV, WV, SB

*Please take note of The Endocrine Society's News Embargo Policy at

Sources of Research Support: This work was supported by a TOP-research grant from the University of Antwerp to WVH;a PhD grant of the Institute for the Promotion of Innovation through Science and Technology in Flanders (IWT-Vlaanderen) to DZ; SB holds a postdoctoral fellowship obtained from the Flemish Fund for Scientific Research (F.W.O. Vlaanderen).