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14.1. Association of vitamin D levels, race/ethnicity, and clinical characteristics with COVID-19 test results

Meltzer David O , Best Thomas J , Zhang Hui , Vokes Tamara , Arora Vineet M , Solway Julian

JAMA Netw Open. 2021;4(3):e214117. https://bit.ly/3zopFZ4This prospective observational cohort study (n=4638) measured vitamin D level in the year before undergoing COVID-19 testing. The risk of a positive COVID-19 test in Black, but not White, individuals was 2.64-fold higher if vitamin D level was 3040 ng/ml compared to > 40 ng/ml.Vitamin D may improve immune functi...

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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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ey0019.14-16 | Genetics | ESPEYB19

14.16. The mutational landscape of human somatic and germline cells

Moore Luiza , Cagan Alex , Coorens Tim H H , Neville Matthew D C , Sanghvi Rashesh , Sanders Mathijs A , Oliver Thomas R W , Leongamornlert Daniel , Ellis Peter , Noorani Ayesha , Mitchell Thomas J , Butler Timothy M , Hooks Yvette , Warren Anne Y , Jorgensen Mette , Dawson Kevin J , Menzies Andrew , O'Neill Laura , Latimer Calli , Teng Mabel , van Boxtel Ruben , Iacobuzio-Donahue Christine A , Martincorena Inigo , Heer Rakesh , Campbell Peter J , Fitzgerald Rebecca C , Stratton Michael R , Rahbari Raheleh

Nature. 2021 Sep;597(7876):381386. doi: 10.1038/s41586-021-03822-7.Brief Summary: This study investigated the mutational background of somatic cells and rates of mutation in 29 distinct anatomical structures and compared these with the male germline from the same donor. The rate of mutation was lowest in spermatogonia.Characterization of mutations that occur in...

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ESPE Yearbook of Paediatric Endocrinology

14.1. Association of vitamin D levels, race/ethnicity, and clinical characteristics with COVID-19 test results

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

14.16. The mutational landscape of human somatic and germline cells

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