Unknown,Transcriptomics,Genomics,Proteomics

Dataset Information

Expression data for 2 obese subjects from the SibPair cohort with a deletion on 16p11.2

ABSTRACT: 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.

ORGANISM(S): Homo sapiens

SUBMITTER: Johanna Andersson

PROVIDER: E-GEOD-19238 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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Publications

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.

Walters R G RG Jacquemont S S Valsesia A A de Smith A J AJ Martinet D D Andersson J J Falchi M M Chen F F Andrieux J J Lobbens S S Delobel B B Stutzmann F F El-Sayed Moustafa J S JS Chèvre J-C JC Lecoeur C C Vatin V V Bouquillon S S Buxton J L JL Boute O O Holder-Espinasse M M Cuisset J-M JM Lemaitre M-P MP Ambresin A-E AE Brioschi A A Gaillard M M Giusti V V Fellmann F F Ferrarini A A Hadjikhani N N Campion D D Guilmatre A A Goldenberg A A Calmels N N Mandel J-L JL Le Caignec C C David A A Isidor B B Cordier M-P MP Dupuis-Girod S S Labalme A A Sanlaville D D Béri-Dexheimer M M Jonveaux P P Leheup B B Ounap K K Bochukova E G EG Henning E E Keogh J J Ellis R J RJ Macdermot K D KD van Haelst M M MM Vincent-Delorme C C Plessis G G Touraine R R Philippe A A Malan V V Mathieu-Dramard M M Chiesa J J Blaumeiser B B Kooy R F RF Caiazzo R R Pigeyre M M Balkau B B Sladek R R Bergmann S S Mooser V V Waterworth D D Reymond A A Vollenweider P P Waeber G G Kurg A A Palta P P Esko T T Metspalu A A Nelis M M Elliott P P Hartikainen A-L AL McCarthy M I MI Peltonen L L Carlsson L L Jacobson P P Sjöström L L Huang N N Hurles M E ME O'Rahilly S S Farooqi I S IS Männik K K Jarvelin M-R MR Pattou F F Meyre D D Walley A J AJ Coin L J M LJ Blakemore A I F AI Froguel P P Beckmann J S JS

Nature 20100201 7281

Obesity has become a major worldwide challenge to public health, owing to an interaction between the Western 'obesogenic' environment and a strong genetic contribution. Recent extensive genome-wide association studies (GWASs) have identified numerous single nucleotide polymorphisms associated with obesity, but these loci together account for only a small fraction of the known heritable component. Thus, the 'common disease, common variant' hypothesis is increasingly coming under challenge. Here w ...[more]

PMID: 20130649

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Project description:Background: Chromosomal 16p11.2 deletions and duplications are genomic disorders which are characterized by neurobehavioral abnormalities, obesity, congenital abnormalities and so on. However, the prenatal phenotypes of 16p11.2 copy number variations (CNVs) are still not well described till now. This study aimed to provide an elaborate summary of intrauterine phenotypic features for such genomic disorders. Methods: Twenty prenatal amniotic fluid samples diagnosed with 16p11.2 microdeletions/microduplications were obtained from pregnant women who opted for invasive prenatal testing. Karyotypic analysis and chromosomal microarray analysis (CMA) were performed in parallel. The pregnancy outcomes and health conditions after birth for all cases were followed up. Meanwhile, we made a pooled analysis on the prenatal phenotypes for the published cases carrying 16p11.2 CNVs. Results: 20 fetuses (20/20884, 0.10%) with 16p11.2 CNVs were identified: five 16p11.2 BP2-BP3 deletion, ten 16p11.2 BP4-BP5 deletion and five 16p11.2 BP4-BP5 duplication. Abnormal ultrasound findings were recorded in ten participants with 16p11.2 deletions.Various degrees of intrauterine phenotypic features, ranging from normal to abnormal, were observed. No ultrasound abnormalities were observed for all 16p11.2 duplication cases during the pregnancy period. For 16p11.2 deletions, eleven cases terminated their pregnancies. For 16p11.2 duplications, four cases gave birth to healthy neonates except one was lost to follow up. Conclusions: Diverse prenatal phenotypes were presented in 16p11.2 CNVs, ranging from normal to abnormal. For 16p11.2 BP4-BP5 deletion, the most common structural and non-structural abnormalities were the abnormality of the vertebral column or rib and thickened nuchal translucency, respectively. 16p11.2 BP2-BP3 deletion might be closely associated with fetal growth restriction and single umbilical artery. No representative ultrasound findings for 16p11.2 duplication were observed till now. Considering the variable expressivity and incomplete penetrance of 16p11.2 CNVs, long term follow up after birth should be carried out for these cases. We identified 20 fetuses carrying the 16p11.2 microdeletions and microduplications using chromosomal microarray analysis. And diverse prenatal phenotypes and the critical genes involved in the deleted/duplicated regions were described in this study.

Dataset Information

Expression data for 2 obese subjects from the SibPair cohort with a deletion on 16p11.2

Publications

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.

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