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ey0019.11-2 | Genetic obesity: findings in clinical cohorts – how to interpret results? | ESPEYB19

11.2. Rare variant analysis of obesity-associated genes in young adults with severe obesity from a consanguineous population of Pakistan

S Saeed , QM Janjua , A Haseeb , R Khanam , E Durand , E Vaillant , L Ning , A Badreddine , L Berberian , M Boissel , S Amanzougarene , M Canouil , M Derhourhi , A Bonnefond , M Arslan , P Froguel

p.froguel@imperial.ac.uk Diabetes 2022;71:694705https://doi.org/10.2337/db21-0373Brief Summary: In this observational cross-sectional study in 128 randomly selected young obese adults (BMI 37.2±0.3 kg/m2; age 18.4±0.3 years) from the Severe Obesity in Pakistani Population (SOPP), screening by whole-exome analysis found 3% had ...

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ey0017.11-2 | New Genetic Findings | ESPEYB17

11.2. Loss-of-function mutations in MRAP2 are pathogenic in hyperphagic obesity with hyperglycemia and hypertension

M Baron , J Maillet , M Huyvaert , A Dechaume , R Boutry , H Loiselle , E Durand , B Toussaint , E Vaillant , J Philippe , J Thomas , A Ghulam , S Franc , G Charpentier , JM Borys , C Levy-Marchal , M Tauber , R Scharfmann , J Weill , C Aubert , J Kerr-Conte , F Pattou , R Roussel , B Balkau , M Marre , M Boissel , M Derhourhi , S Gaget , M Canouil , P Froguel , A Bonnefond

To read the full abstract: Nature Medicine. 2019;25(11):17338. PMID 31700171.These authors sequenced the gene for melanocortin-2 receptor accessory protein (MRAP2 ) in 9418 blood DNA samples from several population studies. They detected 23 rare heterozygous variants, which were significantly associated with an increased risk of obesity (OR 3.8 in children and 2.9 in adults)....

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ey0015.11-5 | New Developments in Monogenic Obesity | ESPEYB15

11.5 Loss-of-function mutations in ADCY3 cause monogenic severe obesity

S Saeed , A Bonnefond , F Tamanini , MU Mirza , J Manzoor , QM Janjua , SM Din , J Gaitan , A Milochau , E Durand , E Vaillant , A Haseeb , F De Graeve , I Rabearivelo , O Sand , G Queniat , R Boutry , DA Schott , H Ayesha , M Ali , WI Khan , TA Butt , T Rinne , C Stumpel , A Abderrahmani , J Lang , M Arslan , P Froguel

See comment on 11.7...

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ey0019.15-4 | Diabetes | ESPEYB19

15.4. Four groups of type 2 diabetes contribute to the etiological and clinical heterogeneity in newly diagnosed individuals: An IMI DIRECT study

A Wesolowska-Andersen , CA Brorsson , R Bizzotto , A Mari , A Tura , R Koivula , A Mahajan , A Vinuela , JF Tajes , S Sharma , M Haid , C Prehn , A Artati , MG Hong , PB Musholt , A Kurbasic , F De Masi , K Tsirigos , HK Pedersen , V Gudmundsdottir , CE Thomas , K Banasik , C Jennison , A Jones , G Kennedy , J Bell , L Thomas , G Frost , H Thomsen , K Allin , TH Hansen , H Vestergaard , T Hansen , F Rutters , P Elders , L t'Hart , A Bonnefond , M Canouil , S Brage , T Kokkola , A Heggie , D McEvoy , A Hattersley , T McDonald , H Teare , M Ridderstrale , M Walker , I Forgie , GN Giordano , P Froguel , I Pavo , H Ruetten , O Pedersen , E Dermitzakis , PW Franks , JM Schwenk , J Adamski , E Pearson , MI McCarthy , S Brunak , Consortium ID

Cell Rep Med. 2022;3(1):100477. doi: 10.1016/j.xcrm.2021.100477. PubMed ID: 35106505Brief summary: To explore clinical heterogeneity, this study analyzed baseline visit data on 726 adults with newly diagnosed Type 2 diabetes (T2D) adults and identified in 4 distinct profiles (clusters of phenotypes), which predicted differences in subsequent disease progression and anti-diabetic treatments...

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ESPE Yearbook of Paediatric Endocrinology

11.2. Rare variant analysis of obesity-associated genes in young adults with severe obesity from a consanguineous population of Pakistan

11.2. Loss-of-function mutations in MRAP2 are pathogenic in hyperphagic obesity with hyperglycemia and hypertension

11.5 Loss-of-function mutations in ADCY3 cause monogenic severe obesity

15.4. Four groups of type 2 diabetes contribute to the etiological and clinical heterogeneity in newly diagnosed individuals: An IMI DIRECT study

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