Research ArticleCROHN’S DISEASE

Functional variants in the LRRK2 gene confer shared effects on risk for Crohn’s disease and Parkinson’s disease

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Science Translational Medicine  10 Jan 2018:
Vol. 10, Issue 423, eaai7795
DOI: 10.1126/scitranslmed.aai7795

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A shared history

Crohn’s disease (CD), an inflammatory bowel disease, has a relatively high prevalence in Ashkenazi Jewish populations. Hui et al. conducted genome-wide association analysis in 2066 CD patients and 3633 healthy control individuals of Ashkenazi Jewish ancestry and identified two functional variants in the LRRK2 gene. The LRRK2 gene has been previously linked to the development of Parkinson’s disease (PD). The new LRRK2 variants conferred risk for CD (N2081D) or protection from CD (N551K/R1398H). Analysis of other variants within the LRRK2 locus in 24,570 individuals revealed similar genetic effects between CD and PD in both Ashkenazi Jewish and non-Jewish cohorts. The presence of shared LRRK2 alleles in CD and PD provides insight into disease mechanisms and potential treatments.