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Association of Crohn's Disease with Aryl Hydrocarbon Receptor Gene Polymorphisms in Patients from Southeast China
Chao-Qun Wu1, Qian-Ru Lin1, Shi-Jie Ying1
1Department of Gastroenterology, The Second Affiliated Hospital of Wenzhou Medical University , Wenzhou , Zhejiang Province , China.
Insights
The aryl hydrocarbon receptor (AhR) gene variant rs2158041 may be linked to Crohn's disease (CD) susceptibility in Southeast China. This specific AhR polymorphism was less common in CD patients, particularly those with ileal or stricture CD.
Area of Science:
- Immunology
- Genetics
- Gastroenterology
Background:
- The aryl hydrocarbon receptor (AhR) is crucial for immune system regulation.
- Crohn's disease (CD) involves complex genetic and immune factors.
- Understanding genetic associations can elucidate CD pathogenesis.
Purpose of the Study:
- To investigate the association between specific aryl hydrocarbon receptor (AhR) gene polymorphisms and Crohn's disease (CD) in a Southeast Chinese population.
- To identify potential genetic risk factors for CD development and subtypes.
Main Methods:
- Utilized an improved multiple ligase detection reaction technique.
- Genotyped three AhR polymorphisms (rs2158041, rs2066853, rs10249788) in 310 CD patients and 573 controls.
- Performed association and haplotype analyses.
Main Results:
- The variant allele (T) and genotype (CT+TT) of rs2158041 were significantly less frequent in CD patients compared to controls (p < 0.05).
- This association remained significant for ileal CD and stricture CD subtypes (p < 0.0083).
- No significant differences were found for rs2066853 and rs10249788 polymorphisms or their linkage disequilibrium, except for the rs2158041-rs2066853 (TG) haplotype, which was less frequent in CD patients (p < 0.05).
Conclusions:
- The AhR gene polymorphism rs2158041 may represent a susceptible locus for Crohn's disease.
- This association is particularly relevant for ileal CD and stricture CD subtypes.
- Further research into AhR's role in CD pathogenesis is warranted.
Abstract:
Aims The aryl hydrocarbon receptor (AhR) plays a pivotal role in regulating the innate and the acquired immune systems. The present study aimed to investigate the association of Crohn's disease (CD) with AhR polymorphisms in a cohort of patients from Southeast China. Methods An improved multiple ligase detection reaction technique was applied to examine the polymorphisms of rs2158041, rs2066853, and rs10249788 in 310 patients with CD and 573 controls. Results Compared to the controls, the variant allele (T) and genotype (CT+TT) of rs2158041 were less frequent in patients with CD (both p < 0.05). Similar conclusions were drawn from patients with ileal CD and with stricture CD as compared to the controls (all p < 0.0083). However, no significant differences were observed in allele and genotype frequencies of rs2066853 and rs10249788 between patients with CD and the controls (all p > 0.05). Although rs2158041 and rs10249788 were in complete linkage disequilibrium with rs2066853, respectively, only the frequency of haplotype (TG) formed by rs2158041 and rs2066853 was significantly lower in patients with CD than that in the controls (p < 0.05). Conclusions AhR (rs2158041) might be a susceptible locus for CD, especially for the two subtypes: ileal CD and stricture CD.
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