scholarly journals Associations between Single-Nucleotide Polymorphisms in Corticotropin-Releasing Hormone-Related Genes and Irritable Bowel Syndrome

PLoS ONE ◽  
2016 ◽  
Vol 11 (2) ◽  
pp. e0149322 ◽  
Author(s):  
Ayaka Sasaki ◽  
Naoko Sato ◽  
Naoki Suzuki ◽  
Michiko Kano ◽  
Yukari Tanaka ◽  
...  
2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Shiwei Zhu ◽  
Ben Wang ◽  
Qiong Jia ◽  
Liping Duan

Abstract Background Genetic factors increase the risk of irritable bowel syndrome (IBS). Analysis of single nucleotide polymorphisms (SNPs) has been used in IBS patients, but the findings are inconsistent. The goal of this review was to synthesize all the published SNPs studies of IBS through meta-analysis to objectively evaluate the relevance of SNPs to IBS risks. Methods IBS - related polymorphisms studies from 2000 to 2018 were searched. Pooled odds ratios with a 95% confidence interval for each SNP were evaluated through five genetic models. Ethnicity, ROME criteria and IBS subtypes were defined for subgroup analyze. Results Ten relevant genes were evaluated. SNPs rs4263839 and rs6478108 of TNFSF15 associated with an increased risk of IBS; IL6 rs1800795 increased the risk for Caucasian IBS patients which diagnosed by Rome III criteria; and IL23R rs11465804 increased the risk for IBS-C patients. IL10 rs1800896 GG genotype associated with a decreased risk of IBS. No evidence supported the association of GNβ3 rs5443, TNFα rs1800629, and IL10 rs1800871 to IBS in this study. Conclusions This meta-analysis presents an in-depth overview for IBS SNPs analysis. It was confirmed that polymorphisms of TNFSF15 associated with increased IBS risk, while IL10 rs1800896 associated with decreased IBS risk. It might offer some insights into polymorphisms of inflammation factors which might affect IBS susceptibility. Moreover, the analysis also emphasizes the importance of diagnostic criteria and phenotype homogeneity in IBS genetic studies.


2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Martina Ledergerber ◽  
◽  
Brian M. Lang ◽  
Henriette Heinrich ◽  
Luc Biedermann ◽  
...  

Abstract Background Abdominal pain is a frequent symptom in patients with inflammatory bowel disease (IBD) including Crohn’s disease (CD) and ulcerative colitis (UC). Pain can result from ongoing inflammation or functional disorders imitating irritable bowel syndrome (IBS). Several single-nucleotide polymorphisms (SNPs) have been associated with IBS. However, the impact of IBS genetics on the clinical course of IBD, especially pain levels of patients remains unclear. Methods Data of 857 UC and 1206 CD patients from the Swiss IBD Cohort Study were analysed. We tested the association of the maximum of the abdominal pain item of disease activity indices in UC and CD over the study period with 16 IBS-associated SNPs, using multivariate ANOVA models. Results In UC patients, the SNPs rs1042713 (located on the ADRB2 gene) and rs4663866 (close to the HES6 gene) were associated with higher abdominal pain levels (P = 0.044; P = 0.037, respectively). Abdominal pain was not associated with any markers of patient management in a model adjusted for confounders. In CD patients, higher levels of abdominal pain correlated with the number of physician contacts (P < 10–15), examinations (P < 10–12), medical therapies (P = 0.023) and weeks of hospitalisation (P = 0.0013) in a multivariate model. Conclusions We detected an association between maximal abdominal pain in UC patients and two IBS-associated SNPs. Abdominal pain levels had a pronounced impact on diagnostic and therapeutic procedures in CD but not in UC patients.


2017 ◽  
Vol 2017 ◽  
pp. 1-9 ◽  
Author(s):  
Magdalena Grzesiak ◽  
Jan Aleksander Beszłej ◽  
Ewa Waszczuk ◽  
Marcin Szechiński ◽  
Monika Szewczuk-Bogusławska ◽  
...  

Aim. To assess the association of six polymorphisms in serotonin-related genes with depressive or anxiety disorders in patients with irritable bowel syndrome (IBS).Methods. The lifetime prevalence of depressive and anxiety disorders was assessed in 95 IBS patients (85% women) using the Munich version of the Composite International Diagnostic Interview (CIDI). IBS was diagnosed according to the Rome III criteria.SCL6A4HTTLPR polymorphism (rs4795541) was determined using PCR-based method. Single-nucleotide polymorphisms inHTR1A(rs6295),HTR2A(rs6313 and rs6311),HTR2C(rs6318), andTPH1(rs1800532) were detected by minisequencing method.Results. IBS patients with depressive disorders were characterized by higher frequency of 5-HTTLPR L allele in comparison to IBS patients with anxiety disorders. The lower frequency of 1438 A allele inHTR2Awas found in IBS patients with depressive disorders in comparison to IBS patients without mental disorders. The lower G allele frequency inHTR2Crs6318 polymorphism among IBS patients with anxiety disorders was also observed.Conclusions. Our results provide further evidence for the involvement ofSLC6A4rs4795541 andHTR2Ars6311 polymorphisms in the pathophysiology of depressive disorders in IBS patients. The new findings indicate thatHTR2Crs6318 polymorphism may be associated with the susceptibility to anxiety disorders in IBS patients.


PLoS ONE ◽  
2012 ◽  
Vol 7 (9) ◽  
pp. e42450 ◽  
Author(s):  
Naoko Sato ◽  
Naoki Suzuki ◽  
Ayaka Sasaki ◽  
Emiko Aizawa ◽  
Takeshi Obayashi ◽  
...  

2015 ◽  
Vol 2015 ◽  
pp. 1-7
Author(s):  
Xiujun Tang ◽  
Shumin Zhan ◽  
Liping Yang ◽  
Wenyan Cui ◽  
Jennie Z. Ma ◽  
...  

Twin and family studies indicate that smoking addiction is highly influenced by genetic factors. Variants in the corticotropin-releasing hormone receptor 1 (CRHR1) gene have been associated with alcoholism and depression. In this study, we tested five single nucleotide polymorphisms (SNPs) inCRHR1for their association with ND, which was assessed by smoking quantity (SQ), the Heaviness of Smoking Index (HSI), and the Fagerström test for ND (FTND) in 2,037 subjects from 602 families of either European American (EA) or African American (AA) ancestry. Association analysis of the five SNPs revealed a significant association of rs171440 with SQ in the AA sample and with SQ and FTND in the pooled AA and EA samples. Haplotype-based association analysis indicated significant association of haplotypes C-C (56.9%) and T-C (38.9%), formed by SNPs rs171440 and rs1396862, with SQ in the AA sample, C-C-G (47.6%) with SQ, and T-C-G (42.3%), formed by SNPs rs171440, rs1396862, and rs878886, with SQ and FTND in the pooled AA and EA samples. However, none of these associations remained significant after correction for multiple testing. Together, our results provide suggestive evidence for the involvement ofCRHR1in ND, which warrants further investigation using larger independent samples.


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