Ontology highlight
ABSTRACT:
SUBMITTER: Kaisinger LR
PROVIDER: S-EPMC10435378 | biostudies-literature | 2023 Aug
REPOSITORIES: biostudies-literature
Kaisinger Lena R LR Kentistou Katherine A KA Stankovic Stasa S Gardner Eugene J EJ Day Felix R FR Zhao Yajie Y Mörseburg Alexander A Carnie Christopher J CJ Zagnoli-Vieira Guido G Puddu Fabio F Jackson Stephen P SP O'Rahilly Stephen S Farooqi I Sadaf IS Dearden Laura L Pantaleão Lucas C LC Ozanne Susan E SE Ong Ken K KK Perry John R B JRB
Cell genomics 20230802 8
Obesity contributes substantially to the global burden of disease and has a significant heritable component. Recent large-scale exome sequencing studies identified several genes in which rare, protein-coding variants have large effects on adult body mass index (BMI). Here we extended such work by performing sex-stratified associations in the UK Biobank study (N∼420,000). We identified genes in which rare heterozygous loss-of-function increases adult BMI in women (<i>DIDO1, PTPRG,</i> and <i>SLC1 ...[more]