Human Genetics

, Volume 129, Issue 6, pp 597–609

Contribution of the IBD5 locus to inflammatory bowel disease: a meta-analysis

  • Jian Wang
  • Xi Wang
  • Hong Yang
  • Dong Wu
  • Li Wang
  • Jiaming Qian
Original Investigation

Abstract

To evaluate the association of the IBD5 locus to the predisposition of inflammatory bowel diseases (IBDs), a series of meta-analyses between five IBD5 variants (OCTN1 C1672T, OCTN2 G-207C, OCTN1/2 TC haplotype, IGR2096a_1, IGR2198a_1 and IGR2230a_1) and Crohn’s disease (CD) and ulcerative colitis (UC) were performed, which included a total of 26 studies. Overall, five IBD5 variants in a per-allele model of inheritance were significantly associated with elevated CD risk (for OCTN1: OR = 1.23, 95% CI = 1.16–1.30, P < 0.001; for OCTN2: OR = 1.20, 95% CI = 1.11–1.30, P < 0.001; for IGR2096a_1: OR = 1.36, 95% CI = 1.24–1.46, P < 0.001; for IGR2198a_1: OR = 1.34, 95% CI = 1.24–1.46, P < 0.001; for IGR2230a_1: OR = 1.35, 95% CI = 1.23–1.48, P < 0.001) and OCTN1/2 TC haplotype (OR = 1.32, 95% CI = 1.22–1.43, P < 0.001). In the subgroup analysis, the statistically significant associations were also observed in adult- and pediatric-onset CD and in Caucasians for five IBD5 variants and the OCTN1/2 TC haplotype. A statistically significant increase in the risk of UC was detected in a recessive model of inheritances for OCTN1 (OR = 1.23, 95% CI = 1.08–1.40, P < 0.001), OCTN2 (OR = 1.18, 95% CI = 1.05–1.33, P = 0.006), IGR2096a_1 (OR = 1.37, 95% CI = 1.15–1.62, P < 0.001) and IGR2198a_1 (OR = 1.35, 95% CI = 1.10–1.66, P = 0.004); the increased risks of UC were maintained in the adult and Caucasian subgroups, but not the pediatric subgroup. In summary, our results suggested that the IBD5 locus contributes to the susceptibility of CD in a per-allele manner in adults, children and Caucasians, and the locus contributes to the susceptibility of UC in a recessive manner in adult and Caucasian populations.

Supplementary material

439_2011_952_MOESM1_ESM.doc (31 kb)
Supplementary material 1 (DOC 31 kb)
439_2011_952_MOESM2_ESM.doc (75 kb)
Supplementary material 2 (DOC 75 kb)
439_2011_952_MOESM3_ESM.doc (56 kb)
Supplementary material 3 (DOC 55 kb)
439_2011_952_MOESM4_ESM.tif (501 kb)
Supplementary material 4 (TIFF 501 kb)

Copyright information

© Springer-Verlag 2011

Authors and Affiliations

  • Jian Wang
    • 1
  • Xi Wang
    • 1
  • Hong Yang
    • 1
  • Dong Wu
    • 1
  • Li Wang
    • 2
  • Jiaming Qian
    • 1
  1. 1.Department of Gastroenterology, Peking Union Medical College Hospital, Peking Union Medical CollegeChinese Academy of Medical SciencesBeijingPeople’s Republic of China
  2. 2.Department of Epidemiology, School of Basic Medicine, Peking Union Medical CollegeChinese Academy of Medical SciencesBeijingPeople’s Republic of China

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