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Genetic association between EPHX1 and Crohn’s disease: population stratification, genotyping error, or random chance?
  1. A P Cuthbert1,
  2. S A Fisher1,
  3. C M Lewis1,
  4. C G Mathew1,
  5. J Sanderson2,
  6. A Forbes3
  1. 1Division of Genetics and Development, Guy’s, King’s, and St Thomas’ School of Medicine, King’s College London, Guy’s Hospital, London SE1 9RT, UK
  2. 2Department of Gastroenterology, St Thomas’ Hospital, London SE1 7EH, UK
  3. 3St Mark’s Hospital, Northwick Park, Watford Rd, Harrow, Middlesex HA1 3UJ, UK
  1. Correspondence to:
    Professor C G Mathew
    Department of Medical and Molecular Genetics, GKT School of Medicine, 8th floor Guy’s Tower, London SE1 9RT, UK; christopher.mathewkcl.ac.uk

https://doi.org/10.1136/gut.2003.032946

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    We read with interest the article by de Jong and colleagues (Gut 2003;52:547–51) reporting studies of genetic associations between DNA polymorphisms in xenobiotic metabolising genes and Crohn’s disease (CD). The authors employed a case control study design to test seven polymorphisms in five candidate genes for disease association. Evidence was found for a significant association of a single nucleotide polymorphism (SNP), Tyr113His (348T>C), in the microsomal epoxide hydrolase 1 gene (EPHX1), with CD. Homozygosity for the T (Tyr 113) allele was significantly higher in cases than in healthy controls (χ2 = 23.7, p<0.0001, odds ratio 2.9). The observed frequency of the T allele in controls was 41%, which is outside the range of frequencies (58–94%) reported in other control populations (reviewed in de Jong et al). Its frequency in CD cases was 67%. In view of the strength of reported association, we sought to replicate …

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