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Paul Franks

Paul Franks

Principal investigator

Paul Franks

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

Author

  • Anne E Justice
  • Paul Franks
  • Kari E North
  • Cecilia M Lindgren

Summary, in English

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

Department/s

  • Genetic and Molecular Epidemiology
  • EXODIAB: Excellence in Diabetes Research in Sweden
  • EpiHealth: Epidemiology for Health

Publishing year

2019

Language

English

Pages

452-469

Publication/Series

Nature Genetics

Volume

51

Document type

Journal article

Publisher

Nature Publishing Group

Topic

  • Medical Genetics

Status

Published

Research group

  • Genetic and Molecular Epidemiology

ISBN/ISSN/Other

  • ISSN: 1546-1718