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Inflammatory Bowel Disease Clusters Within Affected Sibships in Ashkenazi Jewish Multiplex Families

      Inflammatory bowel disease (IBD) has a long-established familial incidence,
      • Kirsner J.B.
      • et al.
      ,
      • Hislop I.G.
      • et al.
      with an ever-increasing number of genetic risk alleles discovered, tolling more than 300 with current genome-wide association studies.
      • Liu J.Z.
      • et al.
      The Ashkenazi Jewish (AJ) population is enriched for mutations associated with rare Mendelian and common complex diseases
      • Kenny E.E.
      • et al.
      and has an approximately 4-fold increased prevalence of IBD
      • Bernstein C.N.
      • et al.
      and frequent familial aggregation.
      • Schiff E.R.
      • et al.
      However, familial aggregation does not necessarily imply an underlying, exclusively genetic etiology and has also been proposed to be caused by environmental factors. We aimed to determine the contribution of an underlying shared environment to familial aggregation by studying large AJ IBD sibships from a restricted geographic area. We hypothesized that, in a purely genetically inherited disease, affected siblings are expected to be randomly distributed within sibships. On the other hand, if there is an environmental contribution to the disease, it is expected that siblings in closer proximity due to birth order will share more environmental factors and will, thus, be more often concordant for disease than siblings substantially different in birth order.

      Abbreviations used in this paper:

      AJ (Ashkenazi Jewish), CD (Crohn’s disease), IBD (inflammatory bowel disease), IQR (interquartile range)
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