Abstract

BackgroundMycobacterium avium subspecies paratuberculosis (MAP) is an infective agent found in ruminants and milk products, which has been suggested to increase the risk of gastrointestinal inflammation in genetically susceptible hosts. It is hypothesized that lactase persistence facilitates exposure to such milk products increasing the likelihood of adverse outcomes. Individuals either homozygous or heterozygous for the T allele of DNA variant, rs4988235, located 14kb upstream from the LCT locus, are associated with having lactase persistence.The aim of this study was to determine whether lactase persistence as evident by the T allele of rs4988235 is associated with Crohn's Disease (CD) in a New Zealand population.FindingsIndividuals homozygous for the T allele (T/T genotype) showed a significantly increased risk of having CD as compared with those homozygous for the C allele (OR = 1.61, 95% CI = 1.03-2.51). Additionally, a significant increase in the frequency of the T allele was observed in CD patients (OR = 1.30, 95% CI = 1.05-1.61, p = 0.013), indicating that the T allele encoding lactase persistence was associated with an increased risk of CD.ConclusionsOur findings indicate that lactase persistence as evident by the presence of the T allele of rs4988235 is associated with risk of CD in this New Zealand Caucasian population.

Highlights

  • Mycobacterium avium subspecies paratuberculosis (MAP) is an infective agent found in ruminants and milk products, which has been suggested to increase the risk of gastrointestinal inflammation in genetically susceptible hosts

  • Our findings indicate that lactase persistence as evident by the presence of the T allele of rs4988235 is associated with risk of Crohn’s Disease (CD) in this New Zealand Caucasian population

  • A significant increase in the frequency of the T allele was observed in CD patients (OR = 1.30, 95% CI = 1.05-1.61, p = 0.013), indicating that the T allele encoding lactase persistence was associated with risk of CD (Table 1)

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Summary

Introduction

Mycobacterium avium subspecies paratuberculosis (MAP) is an infective agent found in ruminants and milk products, which has been suggested to increase the risk of gastrointestinal inflammation in genetically susceptible hosts. It is hypothesized that lactase persistence facilitates exposure to such milk products increasing the likelihood of adverse outcomes. The aim of this study was to determine whether lactase persistence as evident by the T allele of rs4988235 is associated with Crohn’s Disease (CD) in a New Zealand population. MAP is an infective agent frequently found in ruminants such as cows and sheep that results in Johne’s disease, an inflammatory bowel condition similar to that experienced by humans with CD [2]. Greater than 70% of individuals of white European heritage are reportedly lactose persistent compared to less than 40% throughout individuals from Asian countries [9]

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