Common body mass index-associated variants confer risk of extreme obesity

Chris Cotsapas, Elizabeth K. Speliotes, Ida J. Hatoum, Danielle M. Greenawalt, Radu Dobrin, Pek Y. Lum, Christine Suver, Eugene Chudin, Daniel Kemp, Marc Reitman, Benjamin F. Voight, Benjamin M. Neale, Eric E. Schadt, Joel N. Hirschhorn, Lee M. Kaplan, Mark J. Daly

Research output: Contribution to journalArticlepeer-review

91 Scopus citations


To investigate the genetic architecture of severe obesity, we performed a genome-wide association study of 775 cases and 3197 unascertained controls at ∼550 000 markers across the autosomal genome. We found convincing association to the previously described locus including the FTO gene. We also found evidence of association at a further six of 12 other loci previously reported to influence body mass index (BMI) in the general population and one of three associations to severe childhood and adult obesity and that cases have a higher proportion of risk-conferring alleles than controls. We found no evidence of homozygosity at any locus due to identity-by-descent associating with phenotype which would be indicative of rare, penetrant alleles, nor was there excess genome-wide homozygosity in cases relative to controls. Our results suggest that variants influencing BMI also contribute to severe obesity, a condition at the extreme of the phenotypic spectrum rather than a distinct condition.

Original languageEnglish
Pages (from-to)3502-3507
Number of pages6
JournalHuman Molecular Genetics
Issue number18
StatePublished - 2009
Externally publishedYes


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