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[Association of Crohn's disease with aryl hydrocarbon receptor gene polymorphisms and haplotypes]
1Department of Gastroenterology, the Second Affiliated Hospital of Wenzhou Medical University, Wenzhou 325000, China.
Insights
Aryl hydrocarbon receptor (AhR) gene variations, specifically rs2158041, may influence Crohn's disease (CD) risk and characteristics. Certain AhR haplotypes, CCG and CTG, are linked to increased and decreased CD risk, respectively.
Area of Science:
- Genetics
- Gastroenterology
- Immunology
Background:
- Crohn's disease (CD) is a chronic inflammatory bowel disease with complex genetic underpinnings.
- The aryl hydrocarbon receptor (AhR) plays a role in immune regulation and gut homeostasis.
- Investigating the association between AhR polymorphisms and CD susceptibility is crucial for understanding disease pathogenesis.
Purpose of the Study:
- To examine the relationship between aryl hydrocarbon receptor (AhR) gene polymorphisms and haplotypes and Crohn's disease (CD) susceptibility in a Han Chinese population.
- To determine if specific AhR variants influence the clinical and pathological characteristics of CD.
Main Methods:
- Case-control study involving 310 CD patients and 573 healthy controls.
- Genotyping of three AhR single nucleotide polymorphisms (SNPs): rs10249788, rs2158041, and rs2066853.
- Analysis of allelic and genotypic frequencies, linkage disequilibrium, and haplotype associations using logistic regression and Haploview software.
Main Results:
- The variant allele (T) and genotype (CT+TT) of AhR rs2158041 were significantly decreased in CD patients compared to controls (P=0.009 and P=0.003, respectively).
- Lower frequencies of rs2158041 variant allele and genotype were observed in CD patients with terminal ileum involvement and constricting disease.
- Haplotype analysis revealed an increased frequency of CCG (P=0.039) and a decreased frequency of CTG (P=0.047) in CD patients compared to controls.
Conclusions:
- The rs2158041 polymorphism in the AhR gene may be associated with altered risk, location, and behavior of Crohn's disease.
- The AhR haplotype CCG might increase the risk of developing CD, while the CTG haplotype may confer a protective effect.
Abstract:
Objective: To explore the relationship of Crohn's disease (CD) susceptibility to aryl hydrocarbon receptor (AhR) polymorphisms and haplotypes in Han population in Wenzhou city, China. Methods: A total of 310 CD patients and 573 age- and sex-matched healthy controls were enrolled in our study. Three single nucleotide polymorphisms (SNPs) of AhR(rs10249788,rs2158041,rs2066853) were determined by the improved multiple ligase detection reaction technique. Unconditional logistic regression analyses was applied to analyze the allelic and genotypic differences of each SNP between CD patients and controls, as well as their influence on the clinicopathologic characteristics in CD patients. Analyses of linkage disequilibrium and haplotype were performed by Haploview 4.2 software in all study subjects. Results: Compared with the controls, the variant allele (T) and genotype (CT+TT) of (rs2158041) were evidently decreased among CD patients (19.52% vs. 25.04%, P=0.009; 34.19% vs. 44.68%, P=0.003). According to "the Montreal Classification Standards" , CD patients were divided into different subgroups. The variant allele (T) and genotype (CT+TT) of (rs2158041) were significantly lower in patients with terminal ileum CD than in controls (16.79% vs. 25.04%, P=0.005; 28.24% vs. 44.68%, P=0.001). Similar conclusions were also drawn in patients with constricting disease when compared with the controls (15.20% vs. 25.04%, P=0.003; 28.43% vs. 44.68%, P=0.003). The three SNPs above were shown to be in a linkage disequilibrium. Compared with the controls respectively, the frequency of haplotype (CCG) was increased in CD patients (44.73% vs. 39.60%, P=0.039), whereas that of haplotype (CTG) was decreased (18.02% vs. 22.78%, P=0.047). Conclusions: AhR (rs2158041) variation might influence the risk as well as the location and behavior of CD. The haplotype (CCG) possibly increase the risk of CD development, whereas haplotype (CTG) might decrease it.
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