Medical sequencing at the extremes of human body mass

Nadav Ahituv, Nihan Kavaslar, Wendy Schackwitz, Anna Ustaszewska, Joel Martin, Sybil Hébert, Heather Doelle, Baran Ersoy, Gregory Kryukov, Steffen Schmidt, Nir Yosef, Eytan Ruppin, Roded Sharan, Christian Vaisse, Shamil Sunyaev, Robert Dent, Jonathan Cohen, Ruth McPherson, Len A. Pennacchio

Research output: Contribution to journalArticlepeer-review

180 Scopus citations


Body weight is a quantitative trait with significant heritability in humans. To identify potential genetic contributors to this phenotype, we resequenced the coding exons and splice junctions of 58 genes in 379 obese and 378 lean individuals. Our 96-Mb survey included 21 genes associated with monogenic forms of obesity in humans or mice, as well as 37 genes that function in body weight-related pathways. We found that the monogenic obesity-associated gene group was enriched for rare nonsynonymous variants unique to the obese population compared with the lean population. In addition, computational analysis predicted a greater fraction of deleterious variants within the obese cohort. Together, these data suggest that multiple rare alleles contribute to obesity in the population and provide a medical sequencing-based approach to detect them.

Original languageEnglish (US)
Pages (from-to)779-791
Number of pages13
JournalAmerican Journal of Human Genetics
Issue number4
StatePublished - Apr 2007

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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