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A study of Kibbutzim in Israel reveals risk factors for cardiometabolic traits and subtle population structure

European Journal of Human Geneticsvolume 26pages18481858 (2018) | Download Citation


Genetic studies in isolated populations often increase power for identifying loci associated with complex diseases and traits. We present here the Kibbutzim Family Study (KFS), aimed at investigating the genetic basis of cardiometabolic traits in extended Israeli families characterized by long-term social stability and a homogeneous environment. Extensive information on cardiometabolic traits, as well as genome-wide genotypes, were collected on 901 individuals. We observed that most KFS participants were of Ashkenazi Jewish (AJ) genetic origin, confirmed a recent severe bottleneck in the AJ recent history, and detected a subtle within-AJ population structure. Focusing on genetic variants relatively common in the KFS but very rare in Europeans, we observed that AJ-enriched variants appear in cancer-related pathways more than expected by chance. We conducted an association study of the AJ-enriched variants against 16 cardiometabolic traits, and found seven loci (24 variants) to be significantly associated. The strongest association, which we also replicated in an independent study, was between a variant upstream of MSRA (frequency ≈1% in the KFS and nearly absent in Europeans) and weight (P = 3.6∙10-8). In conclusion, the KFS is a valuable resource for the study of the population genetics of Israel as well as the genetics of cardiometabolic traits.

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We are grateful to the study participants, recruiters, interviewers, and nurses. This study was supported by Israeli Science Foundation grants 201/98-1 and 407/17 and partially by National Institutes of Health research grant R01HL088884. Genotyping was also supported in part by a generous gift from the Samson Family (South Africa) to DK.

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Author notes

  1. These authors contributed equally: Shai Carmi, Hagit Hochner.


  1. Braun School of Public Health, Hebrew University-Hadassah Medical Center, Jerusalem, Israel

    • Einat Granot-Hershkovitz
    • , Yechiel Friedlander
    • , Shai Carmi
    •  & Hagit Hochner
  2. Faculty of Medicine in the Galilee, Bar-Ilan University, Safed, Israel

    • David Karasik
  3. Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA

    • Laura Rodriguez-Murillo
    • , Anshuman Sewda
    •  & Inga Peter
  4. Genome Institute of Singapore, Agency for Science, Technology and Research, Singapore, Singapore

    • Rajkumar Dorajoo
    •  & Jianjun Liu
  5. Department of Medicine, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore

    • Jianjun Liu


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The authors declare that they have no conflict of interest.

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Correspondence to Shai Carmi or Hagit Hochner.

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