Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution.
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- doi: 10.1038/s41588-018-0334-2
- issn: 1061-4036
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A.E. Justice et al., « Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution. », Serveur académique Lausannois, ID : 10.1038/s41588-018-0334-2
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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