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NOD2 exonic variations in Iranian Crohn's disease patients

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International Journal of Colorectal Disease Aims and scope Submit manuscript

Abstract

Purpose

The NOD2 gene is known to have a strong association with Crohn’s disease, but different trends were reported in occurrence of NOD2 variants in distinct ethnicities. The aim of this study was to assess all exonic sequences of the NOD2 gene in Iranian Crohn's disease patients and healthy controls to identify any existing variation and evaluate their association with Crohn's disease.

Methods

A total of 90 non-related Crohn's disease patients and 120 sex- and age-matched healthy controls of Iranian origin were enrolled in this study. The participants were referred to a tertiary center in a 2-year period (2006–2008). The exonic regions of the NOD2 gene were amplified by polymerase chain reaction and evaluated by direct sequencing.

Results

A total of 21 sequence variations were identified among all exonic regions of the NOD2 gene, of which eight had an allele frequency of more than 5%. Eight new mutations (one in exon 2 and seven in exon 4) were observed. The three main variants (R702W, G908R, and 1007fs) showed allele frequencies of 13.3%, 2.2%, and 1.7%, respectively. Three new variations (P371T, A794P, and Q908H) and R702W mutation were significantly more frequent in Crohn's disease patients compared to controls.

Conclusions

Eight novel mutations were identified in the NOD2 exons, but the pathophysiological importance of these variants remains unclear. Iranian patients with their different genetic reservoirs may demonstrate some novel characteristics for disease susceptibility.

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Authors and Affiliations

  1. Research Center for Gastroenterology and Liver Diseases (RCGLD), Taleghani Hospital, Shahid Beheshti University, M.C., Yemen St., Velenjak, Tehran, Iran

    Nosratollah Naderi, Alma Farnood, Manijeh Habibi, Homayoun Zojaji, Hedieh Balaii, Farzad Firouzi, Mohsen Chiani, Faramarz Derakhshan, Ali Tahami, Rahim Aghazadeh & Mohammad Reza Zali

  2. Gastroenterology Department, Tehran University of Medical Sciences, Tehran, Iran

    Nasser Ebrahimi Daryani

Authors
  1. Nosratollah Naderi
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  2. Alma Farnood
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  3. Manijeh Habibi
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  4. Homayoun Zojaji
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  5. Hedieh Balaii
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  6. Farzad Firouzi
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  7. Mohsen Chiani
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  8. Faramarz Derakhshan
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  9. Ali Tahami
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  10. Rahim Aghazadeh
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  11. Nasser Ebrahimi Daryani
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  12. Mohammad Reza Zali
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Corresponding author

Correspondence to Alma Farnood.

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Naderi, N., Farnood, A., Habibi, M. et al. NOD2 exonic variations in Iranian Crohn's disease patients. Int J Colorectal Dis 26, 775–781 (2011). https://doi.org/10.1007/s00384-011-1145-4

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  • DOI: https://doi.org/10.1007/s00384-011-1145-4

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