ISSN 1662-4009 (online)

ey0018.13-16 | Endocrinology | ESPEYB18

13.16. Maternal stature, maternal education and child growth in Pakistan: a cross-sectional study

N Javid , C Pu

AIMS Public Health 2020; 7(2): 380–392. doi: 10.3934/publichealth.2020032– Pakistan has a significantly higher prevalence of stunted children under 5 years old compared with other countries of the same income level. Stunting is more frequent in children of shorter compared to taller mothers– The authors hypothesized that higher maternal education, a modifiable factor, i...

ey0018.14-1 | (1) | ESPEYB18

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 30–40 ng/ml compared to > 40 ng/ml.Vitamin D may improve immune functi...

ey0018.14-2 | (1) | ESPEYB18

14.2. Lipocalin-2 is an anorexigenic signal in primates

Petropoulou Peristera-Ioanna , Mosialou Ioanna , Shikhel Steven , Hao Lihong , Panitsas Konstantinos , Bisikirska Brygida , Luo Na , Bahna Fabiana , Kim Jongho

eLife 2020;9:e58949 https://elifesciences.org/articles/58949In the mouse, the osteoblast-derived hormone Lipocalin-2 (LCN2) suppresses food intake and acts as a satiety signal. This study now shows that a meal challenge increases serum LCN2 levels in humans with normal or overweight, but not in those with obesity. Postprandial LCN2 serum levels correlate inversely with hunger sensation in challenged ...

ey0018.14-3 | (1) | ESPEYB18

14.3. Decreasing body lengths in North Atlantic right whales

Stewart Joshua D , Durban John W , Knowlton Amy R , Lynn Morgan S , Fearnbach Holly , Barbaro Jacob , Perryman Wayne L , Miller Carolyn A , Moore Michael J

Current Biology 2021 May 17;S0960-9822(21)00614-X. doi: https://doi.org/10.1016/j.cub.2021.04.067The North Atlantic right whale (Narwhale, NARW) is a medium-sized toothed whale that lives year-round in the Arctic waters around Greenland, Canada, and Russia. It possesses a large ‘tusk’ from a protruding canine tooth. NARW born in recent years have experienced stunted growth, and...

ey0018.14-4 | (1) | ESPEYB18

14.4. CRISPR-Cas9 gene editing for sickle cell disease and [beta]-thalassemia

Frangoul Haydar , Altshuler David , Cappellini M. Domenica , Chen Yi-Shan , Domm Jennifer , Eustace Brenda K , Foell Juergen , de la Fuente Josu , Grupp Stephan , Handgretinger Rupert , Ho Tony W , Kattamis Antonis , Kernytsky Andrew , Lekstrom-Himes Julie , Li Amanda M , Locatelli Franco , Mapara Markus Y , de Montalembert Mariane , Rondelli Damiano , Sharma Akshay , Sheth Sujit , Soni Sandeep , Steinberg Martin H , Wall Donna , Yen Angela , Corbacioglu Selim

N Engl J Med 2021; 384:252–260 https://www.nejm.org/doi/full/10.1056/NEJMoa2031054In the Yearbook, we have been following the CRISPR story since its very beginning. Last year, Emmanuelle Charpentier and Jennifer Doudna were awarded the Nobel Prize in Chemistry for discovering the CRISPR-Cas9 gene editing tool. Here, scientists have published the first successful treatment (as...

ey0018.14-5 | (1) | ESPEYB18

14.5. The role of the microbiota in human genetics

Suzuki Taichi A , Ley Ruth E

Science 04 Dec 2020: 370(6521): eaaz6827 https://bit.ly/3q47CTGThese authors review the human traits and genes that microbiota may have contributed or altered in response to changes in host diet, climate, or pathogen exposure.It is now widely recognized that the microbiota of mammals is a product of coevolution. Nevertheless, humans are different in having a geographically specific micr...

ey0018.14-6 | (1) | ESPEYB18

14.6. Whole-genome sequencing of patients with rare diseases in a national health system

Turro Ernest , Astle William J , Megy Karyn , Graf Stefan , Greene Daniel , Shamardina Olga , Allen Hana Lango , Sanchis-Juan Alba , Frontini Mattia , Thys Chantal , Stephens Jonathan , Mapeta Rutendo , Burren Oliver S , Downes Kate , Haimel Matthias , Tuna Salih , Deevi Sri V V , Aitman Timothy J , Bennett David L , Calleja Paul , Carss Keren , Caulfield Mark J , Chinnery Patrick F , Dixon Peter H , Gale Daniel P , James Roger , Koziell Ania , Laffan Michael A , Levine Adam P , Maher Eamonn R , Markus Hugh S , Morales Joannella , Morrell Nicholas W , Mumford Andrew D , Ormondroyd Elizabeth , Rankin Stuart , Rendon Augusto , Richardson Sylvia , Roberts Irene , Roy Noemi B A , Saleem Moin A , Smith Kenneth G C , Stark Hannah , Tan Rhea Y Y , Themistocleous Andreas C , Thrasher Adrian J , Watkins Hugh , Webster Andrew R , Wilkins Martin R , Williamson Catherine , Whitworth James , Humphray Sean , Bentley David R , Kingston Nathalie , Walker Neil , Bradley John R , Ashford Sofie , Penkett Christopher J , Freson Kathleen , Stirrups Kathleen E , Raymond F Lucy , Ouwehand Willem H

Nature 2020; 583: 96–102https://www.nature.com/articles/s41586-020-2434-2The authors applied whole-genome sequencing (WGS) in 9,802 patients with a rare disease in a national health system to streamline diagnosis and to discover unknown aetiological variants in the coding and non-coding regions of the genome. WGS identified the genetic diagnosis in 1138/7065 extensively phenoty...

ey0018.14-7 | (1) | ESPEYB18

14.7. Inherent mosaicism and extensive mutation of human placentas

Coorens Tim H H , Oliver Thomas R W , Sanghvi Rashesh , Sovio Ulla , Cook Emma , Vento-Tormo Roser , Haniffa Muzlifah , Young Matthew D , Rahbari Raheleh , Sebire Neil , Campbell Peter J , Charnock-Jones D Stephen , Smith Gordon CS , Behjati Sam

Nature 2021; 592: 80–85https://www.nature.com/articles/s41586-021-03345-1These authors performed whole-genome sequencing (WGS) of 86 bulk placental samples and of 106 microdissections of placental tissue in order to reconstruct the development of human placental cells from data on somatic mutations. They found that the placenta comprises of multiple very large, genetically dis...

ey0018.14-8 | (1) | ESPEYB18

14.8. Mesenchyme-derived IGF2 is a major paracrine regulator of pancreatic growth and function

Hammerle Constanze M , Sandovici Ionel , Brierley Gemma V , Smith Nicola M , Zimmer Warren E , Zvetkova Ilona , Prosser Haydn M , Sekita Yoichi , Lam Brian YH , Ma Marcella , Cooper Wendy N , Vidal-Puig Antonio , Ozanne Susan E , Medina-Gomez Gema , Constancia Miguel

PLoS Genet. 2020; 16(10): e1009069. doi: https://doi.org/10.1371/journal.pgen.1009069The authors used mouse conditional gene knock-out models to investigate the role of Insulin-like growth factor-2 (Igf2) in pancreatic growth and function. When Igf2 was deleted specifically in mesenchyme-derived cells (but not when deleted in exocrine and endocrine cells), the entire pancreas was smal...