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ey0015.7-5 | Genetic variants and timing of puberty | ESPEYB15

7.5 Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk

FR Day , DJ Thompson , H Helgason , DI Chasman , H Finucane , P Sulem

To read the full abstract: Nat Genet. 2017 Jun;49(6):834-841See comment on 7.6...

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ey0019.15-9 | Assorted Conditions | ESPEYB19

15.9. Genetic insights into biological mechanisms governing human ovarian ageing

KS Ruth , FR Day , J Hussain , A Martinez-Marchal , CE Aiken , A Azad , DJ Thompson , et al.

Nature. 2021;596(7872):393-7. doi: 10.1038/s41586-021-03779-7.PubMed ID: 34349265Brief summary: This study analysed genome-wide association array (GWAS) data on ~200 000 women of European ancestry to identify 290 separate genetic signals associated with normal variation in age at natural menopause (ANM). Experimental alterations of key identified genes in mouse models confirmed their impac...

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ey0017.7-13 | Basic Science | ESPEYB17

7.13. Genomic analysis of male puberty timing highlights shared genetic basis with hair colour and lifespan

B Hollis , FR Day , AS Busch , DJ Thompson , ALG Soares , PRHJ Timmers , A Kwong , DF Easton , PK Joshi , NJ; PRACTICAL Consortium; 23andMe Research Team Timpson , KK Ong , JRB Perry

To read the full abstract: Nature communications vol. 11,1 1536. 24 Mar. 2020. doi: https://www.nature.com/articles/s41467-020-14451-5This multi-trait genome-wide association study (GWAS) for male puberty timing identifies 76 independent signals for puberty timing and highlights relationships with natural hair colour and lifespan. The timing of puber...

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ey0017.11-3 | New Genetic Findings | ESPEYB17

11.3. Human gain-of-function MC4R variants show signaling bias and protect against obesity

LA Lotta , J Mokrosinski , E Mendes de Oliveira , C Li , SJ Sharp , J Luan , B Brouwers , V Ayinampudi , N Bowker , N Kerrison , V Kaimakis , D Hoult , ID Stewart , E Wheeler , FR Day , JRB Perry , C Langenberg , NJ Wareham , IS Farooqi

To read the full abstract: Cell 2019;177 (3):59-607.e9. PMID 31002796.A recent GWAS showed that the heritability of thinness was comparable to that of obesity (1). Some loci showed effects across the entire BMI distribution. This is also true for variants in MC4R. The present study analyzed data on ˜0.5 million people from UK Biobank, with a focus on 61 nonsynonymous var...

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ey0016.7-6 | Genetics of Puberty | ESPEYB16

7.6. Elucidating the genetic architecture of reproductive ageing in the Japanese population

M Horikoshi , FR Day , M Akiyama , M Hirata , Y Kamatani , K Matsuda , K Ishigaki , M Kanai , H Wright , CA Toro , SR Ojeda , A Lomniczi , M Kubo , KK Ong , JRB Perry

To read the full abstract: Nat Commun. 2018 May. 17;9(1):1977.This population study reports 26 loci for ages at menarche and menopause in a Japanese population and demonstrates widespread differences in allele frequencies and effect estimates between Japanese and European variants.Over the past decade, genome-wide association study (GWAS) meta-analys...

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ey0019.7-12 | Basic Science | ESPEYB19

7.12. MC3R links nutritional state to childhood growth and the timing of puberty

BYH Lam , A Williamson , S Finer , FR Day , JA Tadross , Soares A Goncalves , K Wade , P Sweeney , MN Bedenbaugh , DT Porter , A Melvin , KLJ Ellacott , RN Lippert , S Buller , J Rosmaninho-Salgado , GKC Dowsett , KE Ridley , Z Xu , I Cimino , D Rimmington , K Rainbow , K Duckett , S Holmqvist , A Khan , X Dai , X Bochukova , X Genes & Health Research Team , X Martin , X Coll , X Rowitch , X Wareham , X van Heel , X Timpson , X Simerly , X Ong , X Cone , X Langenberg , X Perry , X Yeo , X O'Rahilly

Nature. 2021 Nov;599(7885):436-441. doi: 10.1038/s41586-021-04088-9. Epub 2021 Nov 3. PMID: 34732894. https://www.nature.com/articles/s41586-021-04088-9Brief Summary: This combination of a multi-cohort and animal studies describes the clinical impact of MC3R gene mutations. The authors identified a clinical syndrome ...

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ey0021.11-10 | Genetic Risk Score and New Genes | ESPEYB21

11.10. Protein-truncating variants in BSN are associated with severe adult-onset obesity, type 2 diabetes and fatty liver disease

Y Zhao , M Chukanova , KA Kentistou , Z Fairhurst-Hunter , AM Siegert , RY Jia , GKC Dowsett , EJ Gardner , K Lawler , FR Day , LR Kaisinger , YCL Tung , Lam B Yee Hong , HJC Chen , Q Wang , J Berumen-Campos , P Kuri-Morales , R Tapia-Conyer , J Alegre-Diaz , I Barroso , J Emberson , JM Torres , R Collins , D Saleheen , KR Smith , DS Paul , F Merkle , IS Farooqi , NJ Wareham , S Petrovski , S O'Rahilly , KK Ong , GSH Yeo , JRB Perry

Brief Summary: This exome-wide association study conducted in the UK Biobank cohort (n=454 787) and in two non-European cohorts, the Mexican MCPS cohort (n=141 046) and the Pakistani PGR cohort (n=37 800), identified a association between rare protein-truncating variants (PTVs) in the APBA1 and the BSN genes and adult-onset obesity, suggesting two new genes as possible causes for monogenic obesity. Rare PTVs in BSN were also associated with Type 2 di...

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ESPE Yearbook of Paediatric Endocrinology

7.5 Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk

15.9. Genetic insights into biological mechanisms governing human ovarian ageing

7.13. Genomic analysis of male puberty timing highlights shared genetic basis with hair colour and lifespan

11.3. Human gain-of-function MC4R variants show signaling bias and protect against obesity

7.6. Elucidating the genetic architecture of reproductive ageing in the Japanese population

7.12. MC3R links nutritional state to childhood growth and the timing of puberty

11.10. Protein-truncating variants in BSN are associated with severe adult-onset obesity, type 2 diabetes and fatty liver disease

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