Brief Article
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World J Gastroenterol. Dec 7, 2010; 16(45): 5727-5731
Published online Dec 7, 2010. doi: 10.3748/wjg.v16.i45.5727
SLC11A1 polymorphisms in inflammatory bowel disease and Mycobacterium avium subspecies paratuberculosis status
Lucy C Stewart, Andrew S Day, John Pearson, Murray L Barclay, Richard B Gearry, Rebecca L Roberts, Robert W Bentley
Lucy C Stewart, Andrew S Day, Robert W Bentley, Department of Paediatrics, University of Otago, Christchurch 8140, New Zealand
Andrew S Day, Department of Paediatrics, Christchurch Hospital, Christchurch 8140, New Zealand
John Pearson, Department of Pathology, University of Otago, Christchurch 8140, New Zealand
Murray L Barclay, Richard B Gearry, Rebecca L Roberts, Department of Medicine, University of Otago, Christchurch 8140, New Zealand
Murray L Barclay, Richard B Gearry, Department of Gastroenterology, Christchurch Hospital, Christchurch 8140, New Zealand
Rebecca L Roberts, Department of Biochemistry, University of Otago, Dunedin 9054, New Zealand
Author contributions: Stewart LC and Bentley RW performed the research; Roberts RL, Bentley RW and Day AS designed the research; Pearson J, Stewart LC and Bentley RW analyzed the data; Barclay ML and Gearry RB provided cohort DNA; all authors contributed to the writing of the manuscript.
Supported by The Health Research Council (HRC) of New Zealand and the University of Otago; A University of Otago Summer Studentship Co-funded by Canterbury Scientific Ltd. (to Stewart LC); and A Sir Charles Hercus Health Research Fellowship (HRC) (to Roberts RL)
Correspondence to: Robert W Bentley, PhD, Department of Paediatrics, University of Otago, PO Box 4345, Christchurch 8140, New Zealand. robert.bentley@otago.ac.nz
Telephone: +64-3-3641558 Fax: +64-3-3640009
Received: May 13, 2010
Revised: June 10, 2010
Accepted: June 17, 2010
Published online: December 7, 2010
Abstract

AIM: To test for association of SLC11A1 with inflammatory bowel disease (IBD) and Mycobacterium avium subspecies paratuberculosis (MAP) status in a Caucasian cohort.

METHODS: Five hundred and seven Crohn’s disease (CD) patients, 474 ulcerative colitis (UC) patients, and 569 healthy controls were genotyped for SLC11A1 1730G>A and SLC11A1 469+14G>C using pre-designed TaqMan® SNP assays. χ2 tests were applied to test for association of single nucleotide polymorphisms (SNPs) with disease, and the presence of MAP DNA.

RESULTS: SLC11A1 1730G>A and SLC11A 1469+14G>C were not associated with CD, UC, or IBD. The SLC11A1 1730A minor allele was over-represented in patients who did not require immunomodulator therapy (P = 0.002, OR: 0.29, 95% CI: 0.13-0.66). The frequency of the SLC11A1 469+14C allele was higher in the subset of study participants who tested positive for MAP DNA (P = 0.02, OR: 1.56, 95% CI: 1.06-2.29). No association of SLC11A1 1730G>A with MAP was observed.

CONCLUSION: Although SLC11A1 was not associated with IBD, association with MAP suggests that SLC11A1 is important in determining susceptibility to bacteria implicated in the etiology of CD.

Keywords: NRAMP1; Crohn’s disease; Ulcerative colitis; IS900 polymerase chain reaction