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Polymorphisms in the organic cation transporter genes SLC22A4 and SLC22A5 and Crohn's disease in a New Zealand Caucasian cohort
Author(s) -
Leung Euphemia,
Hong Jiwon,
Fraser Alan G,
Merriman Tony R,
Vishnu Prakash,
Krissansen Geoffrey W
Publication year - 2006
Publication title -
immunology and cell biology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.999
H-Index - 104
eISSN - 1440-1711
pISSN - 0818-9641
DOI - 10.1111/j.1440-1711.2006.01423.x
Subject(s) - haplotype , crohn's disease , allele , odds ratio , allele frequency , gastroenterology , population , medicine , genetics , gene polymorphism , immunology , biology , disease , gene , environmental health
Polymorphisms in the organic cation transporter (OCTN) genes SLC22A4 (OCTN1; polymorphism 1672C/T) and SLC22A5 (OCTN2; polymorphism −207G/C) at the inflammatory bowel disease (IBD) 5 locus comprise a two‐allele haplotype ( SLC22A ‐TC) associated with increased risk for Crohn's disease (CD). In this study, we examined the contribution of the disease susceptibility haplotype SLC22A ‐TC to CD in a New Zealand Caucasian population. The frequencies of the gene polymorphisms 1672C/T and −207G/C were examined in 182 patients with CD and 188 ethnically matched controls by PCR‐RFLP analysis. There was a significant difference in the allele frequency (0.444 vs 0.519; P = 0.041) of the 1672T polymorphism in the SLC22A4 gene between controls and patients with CD. In contrast, there was no significant difference (0.497 vs 0.552; P = 0.135) for the −207C polymorphism in the SLC22A5 gene. The homozygote SLC22A ‐TC diplotype was significantly associated with an increased risk for CD (odds ratio 2.19), and the SLC22A ‐TC haplotype was associated with increased risk ( P = 0.0007) of ileocolonic involvement. The population‐attributable risk for the SLC22A ‐TC haplotype is 15.1%. Thus, SLC22A ‐TC is associated with an increased risk of CD and disease phenotype in our New Zealand CD cohort.