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Association of angiotensin-converting enzyme gene polymorphisms with Crohn's disease in a Chinese Han population

Jie Zhou1, Sichang Zheng1, Zhengting Wang1

  • 1Department of Gastroenterology, Ruijin Hospital, School of Medicine, Shanghai Jiaotong University Shanghai 200000, China.

International Journal of Clinical and Experimental Pathology
|January 30, 2016
PubMed

Insights

Certain Angiotensin-converting enzyme (ACE) gene variations, specifically rs4343G and rs4646994D alleles, appear to protect against Crohn's disease (CD) in the Chinese Han population. Conversely, the rs4343AA genotype and the I allele are associated with increased CD risk.

Area of Science:

  • Genetics
  • Gastroenterology
  • Molecular Biology

Background:

  • Crohn's disease (CD) is a chronic inflammatory bowel disease with complex etiology.
  • Genetic factors are known to play a role in CD susceptibility.
  • The Angiotensin-converting enzyme (ACE) gene is a potential candidate gene for CD due to its role in various physiological processes.

Purpose of the Study:

  • To investigate the association between specific Angiotensin-converting enzyme (ACE) gene polymorphisms and the risk of developing Crohn's disease (CD) in a Chinese Han population.
  • To analyze the relationship between ACE gene single nucleotide polymorphisms (SNPs) and CD susceptibility.
  • To evaluate the role of ACE gene haplotypes in CD pathogenesis.

Main Methods:

  • Genotyping of ACE gene SNPs rs4291, rs4343, and rs4646994 in CD patients and healthy controls.
  • Comparison of allele and genotype frequencies between cases and controls.
  • Analysis of pairwise linkage disequilibrium and haplotype frequencies.

Main Results:

  • Significant differences in allele frequencies for rs4343 (A/G) and rs4646994 (I/D) were observed between CD patients and controls.
  • Significant associations were found between CD risk and rs4343 AA genotype and rs4646994 II genotype.
  • The G-D haplotype frequency was significantly lower in CD patients, indicating a potential protective effect.

Conclusions:

  • ACE gene polymorphisms rs4343G and rs4646994D alleles are associated with a protective effect against Crohn's disease.
  • The rs4343AA genotype and the I allele (in a dominant model) are identified as risk alleles for CD.
  • The G-D haplotype of the ACE gene may play a protective role in the pathogenesis of Crohn's disease.
Abstract

Keywords:
ACE geneCrohn’s diseasegenetic polymorphisms

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