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Confirmation of three inflammatory bowel disease susceptibility loci in a Chinese cohort

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International Journal of Colorectal Disease Aims and scope Submit manuscript

Abstract

Purpose

Recent genome-wide association studies have identified a number of inflammatory bowel diseases (IBD) susceptibility loci in White populations. The aim of our study was to evaluate whether these susceptibility loci also existed in a Chinese Han IBD population.

Methods

Peripheral blood DNA samples from groups of patients with Crohn’s disease (CD) (n = 48), ulcerative colitis (UC) (n = 49), and healthy controls (n = 50) were genotyped for eight genes. Then, an extended analysis of the relationship between genotype and phenotype was performed.

Results

NOD2-P268S (P = 0.025) was found to contribute susceptibility to CD in the Chinese population. IL23R-rs11805303 was detected to confer a strong protective effect against UC (P = 0.010), whereas PTPN2-rs2542151 was significantly associated with an increased risk of UC (P = 0.001). Further phenotype–genotype analysis revealed that P268S was associated with early age of onset (P = 0.028), ileal disease (P = 0.003), and enteric cavity narrowing (P = 0.007).

Conclusions

The study indicates that IL23R-rs11805303 and PTPN2-rs2542151 might contribute to the development of UC and NOD2-P268S might be involved in the etiology of CD in the Chinese Han population.

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Acknowledgments

We thank the Guangdong Provincial Science and Technology Foundation for the grant support to Fachao Zhi.

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Authors and Affiliations

  1. Guangdong Provincial Key Laboratory of Gastroenterology, Department of Gastroenterology, Nanfang Hospital, Southern Medical University, Guangzhou, 510515, China

    Chaolan Lv, Xiaoming Yang, Yiyang Zhang, Xinmei Zhao, Zhengyan Chen, Jinghua Long, Yingchun Zhang, Changqing Zhong, Jia Zhi, Guopeng Yao, Bo Jiang & Fachao Zhi

Authors
  1. Chaolan Lv
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  2. Xiaoming Yang
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  3. Yiyang Zhang
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  4. Xinmei Zhao
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  5. Zhengyan Chen
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  6. Jinghua Long
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  7. Yingchun Zhang
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  8. Changqing Zhong
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  9. Jia Zhi
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  10. Guopeng Yao
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  11. Bo Jiang
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  12. Fachao Zhi
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Corresponding author

Correspondence to Fachao Zhi.

Additional information

Chaolan Lv and Xiaoming Yang equally contributed to the work.

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Lv, C., Yang, X., Zhang, Y. et al. Confirmation of three inflammatory bowel disease susceptibility loci in a Chinese cohort. Int J Colorectal Dis 27, 1465–1472 (2012). https://doi.org/10.1007/s00384-012-1450-6

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  • DOI: https://doi.org/10.1007/s00384-012-1450-6

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