Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution

Research output: Contribution to journalArticle


Body-fat distribution is a risk factor for adverse cardiovascular health consequences. We analyzed the association of body-fat distribution, assessed by waist-to-hip ratio adjusted for body mass index, with 228,985 predicted coding and splice site variants available on exome arrays in up to 344,369 individuals from five major ancestries (discovery) and 132,177 European-ancestry individuals (validation). We identified 15 common (minor allele frequency, MAF ≥5%) and nine low-frequency or rare (MAF


  • Anne E Justice
  • Paul Franks
  • Kari E North
  • Cecilia M Lindgren
  • et al.
External organisations
  • Geisinger Health System
  • Harvard University
  • Umeå University
  • University of North Carolina
  • University of Oxford
Research areas and keywords

Subject classification (UKÄ) – MANDATORY

  • Medical Genetics
Original languageEnglish
Pages (from-to)452–469
JournalNature Genetics
Publication statusPublished - 2019
Publication categoryResearch