Scientific Reports (Mar 2022)

Local genetic variation of inflammatory bowel disease in Basque population and its effect in risk prediction

  • Koldo Garcia-Etxebarria,
  • Olga Merino,
  • Adrián Gaite-Reguero,
  • Pedro M. Rodrigues,
  • Amaia Herrarte,
  • Ane Etxart,
  • David Ellinghaus,
  • Horacio Alonso-Galan,
  • Andre Franke,
  • Urko M. Marigorta,
  • Luis Bujanda,
  • Mauro D’Amato

DOI
https://doi.org/10.1038/s41598-022-07401-2
Journal volume & issue
Vol. 12, no. 1
pp. 1 – 12

Abstract

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Abstract Inflammatory bowel disease (IBD) is characterised by chronic inflammation of the gastrointestinal tract. Although its aetiology remains unknown, environmental and genetic factors are involved in its development. Regarding genetics, more than 200 loci have been associated with IBD but the transferability of those signals to the Basque population living in Northern Spain, a population with distinctive genetic background, remains unknown. We have analysed 5,411,568 SNPs in 498 IBD cases and 935 controls from the Basque population. We found 33 suggestive loci (p 0.68. In conclusion, we report on the genetic architecture of IBD in the Basque population, and explore the performance of European-descent genetic risk scores in this population.