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ea0081oc5.4 | Oral Communications 5: Diabetes, Obesity, Metabolism and Nutrition 2 | ECE2022

Body composition during childhood, adolescence and adulthood influences the odds of developing polycystic ovary syndrome: a mendelian randomisation study with a systematic review and meta-analysis

Dobbie Laurence J , Zhao Sizheng Steven , Pittam Bradley , Alam Uazman , Barber Thomas M , Cuthbertson Daniel J

Background: Observational and genetic Mendelian randomisation (MR) data has demonstrated the association of adulthood overweight/obesity with development of polycystic ovary syndrome (PCOS). However, the contribution of early life (i.e. childhood/adolescence) body composition on incident PCOS is unclear. This study determines the influence of body composition on the likelihood of developing PCOS.Methods: We conducted a 2-sample Mendelian randomisation st...

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ea0003oc2 | Genetics: New Insights into Endocrine Disease | BES2002

GATA3 mutations in the hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome

Nesbit M , Bowl M , Harding B , Crowe C , Dobbie A , Hampson G , Holdaway I , Rigden S , Sampson J , Thakker R

The hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome is an autosomal dominant disorder that is due to a haploinsufficiency of the zinc-finger transcription factor, GATA3 (Nature (2000) 406: 419) whose gene is located on chromosome 10p15. In order to further characterise GATA3 abnormalities we have investigated 6 HDR patients for GATA3 mutations. Leukocyte DNA samples from the 6 probands and an unrelated normal individual were used with 9 pairs of oligonucleotide...

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Endocrine Abstracts

Body composition during childhood, adolescence and adulthood influences the odds of developing polycystic ovary syndrome: a mendelian randomisation study with a systematic review and meta-analysis

GATA3 mutations in the hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome

BiosciAbstracts