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Population sequencing of two endocannabinoid metabolic genes identifies rare and common regulatory variants associated with extreme obesity and metabolite level

Olivier Harismendy12, Vikas Bansal3, Gaurav Bhatia4, Masakazu Nakano12, Michael Scott5, Xiaoyun Wang12, Colette Dib6, Edouard Turlotte6, Jack C Sipe5, Sarah S Murray3, Jean Francois Deleuze6, Vineet Bafna47, Eric J Topol35 and Kelly A Frazer127*

Author Affiliations

1 Moores UCSD Cancer Center, University of California San Diego, 9500 Gilman Drive, La Jolla, CA 92093, USA

2 Department of Pediatrics and Rady's Childrens Hospital, University of California San Diego, 9500 Gilman Drive, La Jolla, CA 92093, USA

3 Scripps Genomic Medicine, Scripps Translational Science Institute, 3344 North Torrey Pines Court Suite 300, La Jolla, CA 92037, USA

4 Department of Computer Sciences, University of California San Diego, 9500 Gilman Drive, La Jolla, CA 92093, USA

5 Department of Molecular and Experimental Medicine, The Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA

6 Sanofi-Aventis Evry Genetics Center, 2 rue Gaston Cremieux, 91057 Evry, France

7 Institute for Genomic Medicine, University of California San Diego, 9500 Gilman Drive, La Jolla, CA 92093, USA

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Genome Biology 2010, 11:R118  doi:10.1186/gb-2010-11-11-r118

Published: 30 November 2010

Additional files

Additional file 1:

Supplementary tables.

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Additional file 2:

Supplementary Figure S3. Flowchart illustrating the filtering steps for the variant calling.

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Additional file 3:

Supplementary Figure S1. Distribution of the minor allele frequencies in the sequenced population for SNVs present in dbSNP (light grey) or novel SNVs (dark grey) in the FAAH and MGLL sequenced intervals.

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Additional file 4:

Supplementary Figure S2. Average AEA plasma levels (pmol/ml) in 48 non-carriers controls, 80 non-carrier cases and 14 case carriers of the most significant FAAH variant-locus allele associated with high BMI. Error bars represent the standard deviation from the mean.

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