Comment[ArrayExpressAccession]	E-GEOD-19238
MAGE-TAB Version	1.1																
Public Release Date	2009-12-02
Investigation Title	Expression data for 2 obese subjects from the SibPair cohort with a deletion on 16p11.2																
Comment[Submitted Name]	Expression data for 2 obese subjects from the SibPair cohort with a deletion on 16p11.2
Experiment Description	We report a highly-penetrant form of obesity, initially observed in 31 heterozygous carriers of a 593kb or larger deletion at 16p11.2 from amongst subjects ascertained for cognitive deficits. Nineteen similar deletions were identified from GWAS data in 16053 individuals from 8 European cohorts; such deletions was absent from healthy non-obese controls and accounted for 0.7% of our morbid obesity cases (p = 6.4x10-8, OR = 43). These findings highlight a promising strategy for identifying missing heritability in obesity and other complex traits, in which insights from rare extreme cases can be used to elucidate the basis for more common phenotypes. The expression data was analysed for 2 obese subjects carrying a deletion on 16p11.2. There are no replicates or controls.																
Term Source Name	ArrayExpress	EFO
Term Source File	http://www.ebi.ac.uk/arrayexpress/	http://www.ebi.ac.uk/efo/efo.owl															
Person Last Name	Andersson	Jernås	Andersson	Jacobson	Carlsson	Sjöström	Walley	Falchi	Froguel	Walters	Blakemore	deSmith	El-Sayed-Mustafa	Buxton	Balding	Richardson	Aitman
Person First Name	Johanna	Margareta	Johanna	Peter	Lena	Lars	Andrew	Mario	Philippe	Robin	Alexandra	Adam	Julia	Jessica	David	Sylvia	Tim
Person Mid Initials	Cecilia		C		M					G	I	J	S	L			
Person Email	j.andersson@imperial.ac.uk																
Person Affiliation	Imperial College London																
Person Address	Division of Genetics of Common Disease, Imperial College London, Burlington Danes Building, Hammersmith Hospital, Du Cane Road, London, United Kingdom																
Person Roles	submitter																
Protocol Name	P-GSE19238-1	P-GSE19238-5	P-GSE19238-4	P-GSE19238-2	P-GSE19238-3	P-GSE19238-6											
Protocol Description	ID_REF =  VALUE = RMA normalized signal intensity	After hybridisation (according to the Minimum Information About a Microarray Experiment guideline, the arrays were scanned using an Affymetrix confocal laser scanner (Affymetrix, GeneArray scanner GCS3000) and visualised using GeneChip Operating Software (GCOS, Affymetrix).	Following fragmentation,15 ug of cRNA were hybridized for 16 hr at 45C on Human U133 Plus 2.0 arrays. Arrays were washed and stained in the Affymetrix Fluidics Station 450.	Qiagen Lipid Tissue RNA extraction kit.	Biotinylated cRNA were prepared according to the standard Affymetrix protocol from 3 ug total RNA (Expression Analysis Technical Manual, 2001, Affymetrix).	Gene expression levels were normalised using the Robust Multiarray Average (RMA) method.											
Protocol Type	bioassay_data_transformation	image_aquisition	hybridization	nucleic_acid_extraction	labeling	feature_extraction											
Publication Title	A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.																
Publication Author List	Walters RG, Jacquemont S, Valsesia A, de Smith AJ, Martinet D, Andersson J, Falchi M, Chen F, Andrieux J, Lobbens S, Delobel B, Stutzmann F, El-Sayed Moustafa JS, Ch�vre JC, Lecoeur C, Vatin V, Bouquillon S, Buxton JL, Boute O, Holder-Espinasse M, Cuisset JM, Lemaitre MP, Ambresin AE, Brioschi A, Gaillard M, Giusti V, Fellmann F, Ferrarini A, Hadjikhani N, Campion D, Guilmatre A, Goldenberg A, Calmels N, Mandel JL, Le Caignec C, David A, Isidor B, Cordier MP, Dupuis-Girod S, Labalme A, Sanlaville D, B�ri-Dexheimer M, Jonveaux P, Leheup B, Ounap K, Bochukova EG, Henning E, Keogh J, Ellis RJ, Macdermot KD, van Haelst MM, Vincent-Delorme C, Plessis G, Touraine R, Philippe A, Malan V, Mathieu-Dramard M, Chiesa J, Blaumeiser B, Kooy RF, Caiazzo R, Pigeyre M, Balkau B, Sladek R, Bergmann S, Mooser V, Waterworth D, Reymond A, Vollenweider P, Waeber G, Kurg A, Palta P, Esko T, Metspalu A, Nelis M, Elliott P, Hartikainen AL, McCarthy MI, Peltonen L, Carlsson L, Jacobson P, Sj�str�m L, Huang N, Hurles ME, O'Rahilly S, Farooqi IS, M�nnik K, Jarvelin MR, Pattou F, Meyre D, Walley AJ, Coin LJ, Blakemore AI, Froguel P, Beckmann JS																
PubMed ID	20130649																
Publication DOI	10.1038/nature08727																
Comment[SecondaryAccession]	GSE19238																
Comment[GEOReleaseDate]	2009-12-02																
Comment[ArrayExpressSubmissionDate]	2009-12-01																
Comment[GEOLastUpdateDate]	2013-01-14																
Comment[AEExperimentType]	transcription profiling by array																
SDRF File	E-GEOD-19238.sdrf.txt