Analysis of the association of single nucleotide polymorphisms of interleukin-23 receptor (IL-23R) and inflammatory bowel disease in a Chinese Han cohort

Lu, Zhongkai; Chen, Zhirong; Zhu, Junyi; Xu, Yunzhao; Xian, Hua

doi:10.18632/oncotarget.12296

Cited by 9 publications

(4 citation statements)

References 34 publications

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“…However, due to genetic differences, some SNPs failed to show a link to CD in the Asian population [10,11]. For example, mutations within genes from the NOD2/CARD15, ATG16L1 , and IL23/Th17 signaling pathways were demonstrated to confer susceptibility to CD only in Western patients and not in Chinese and Japanese patients [12–15]. In addition, studies in the Asian population have revealed some unique SNPs, e.g., c.374T>C of the DLG1 gene in Chinese patients [16], ATG16L2 and/or FCHSD2 in Chinese and South Korean patients [17,18], and SNPs in the TNFSF15 gene in East Asians [19].…”

Section: Introductionmentioning

confidence: 99%

Polymorphisms of the TNF Gene and Three Susceptibility Loci Are Associated with Crohn’s Disease and Perianal Fistula Crohn’s Disease: A Study among the Han Population from South China

Zhang

Wang²,

Jiang

et al. 2019

Med Sci Monit

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BackgroundAlthough 90 susceptibility loci of Crohn’s disease (CD) have been confirmed in the Asian population, susceptibility genes for perianal fistula of CD (pCD) in this population remain unknown. This study explored susceptibility genes for CD and pCD in the Han population from South China.Material/MethodsIn total, 490 patients diagnosed with CD between July 2012 and June 2016 at the Sixth Affiliated Hospital of Sun Yat-sen University were included and divided into the CD group (n=240) and the pCD group (n=250). The healthy control group was composed of 260 volunteers. Peripheral blood samples were taken, and single nucleotide polymorphism (SNP) locus sequencing was used to screen for susceptibility loci. SNPs were sequenced using matrix-assisted laser desorption ionization time-of-flight mass spectrometry.ResultsNine SNPs in TNFSF1 on chromosome 9 were associated with CD. Among them, the rs6478106 locus is a risk locus for CD. The distribution frequency of the T allele of the rs6478106 SNP was significantly different between cases and controls (32.49% versus 18.27%, P<0.001). Rs72553867, located in the IRGM gene on chromosome 5, rs4409764, located in the NKX2–3 gene on chromosome 10, and rs3731772, located in the AOX1 gene on chromosome 2, were susceptibility factors for pCD. Nine SNPs located in TNFSF15 on chromosome 9 were related to CD in Han individuals from Southern China.ConclusionsThe rs6478106 T allele is associated with the risk of CD in the investigated population. SNPs rs72553867 (IRGM gene), rs4409764 (NKX2–3 gene), and rs3731772 (AOX1 gene) increase the risk of pCD.

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Section: Introductionmentioning

confidence: 99%

Polymorphisms of the TNF Gene and Three Susceptibility Loci Are Associated with Crohn’s Disease and Perianal Fistula Crohn’s Disease: A Study among the Han Population from South China

Zhang

Wang²,

Jiang

et al. 2019

Med Sci Monit

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“…Interestingly, aberrant expression and activity of the IL-17/IL-23 axis is frequently involved in the pathogenesis of several inflammatory bowel pathologies [ 13 , 14 ]. Consistently, studies report that polymorphisms in the il23r gene are associated with inflammatory bowel diseases (IBDs) [ 15 , 16 ]. Another proinflammatory cytokine implicated in IBD pathogenesis is IL-21 which is secreted by T follicular helper (Tfh) cells, and it is implicated in the differentiation of germinal center B cells into high-affinity antibody-secreting plasma cells and memory B cells that ensure sustained immune protection and rapid recall responses against previously encountered foreign antigens [ 17 ].…”

Section: The Role Of Mucosal Immunity In the Intestinal Mucosal Bamentioning

confidence: 83%

The Intricate Link among Gut “Immunological Niche,” Microbiota, and Xenobiotics in Intestinal Pathology

Pagliari

Gambassi

Piccirillo

et al. 2017

Mediators of Inflammation

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Inflammatory bowel diseases (IBDs) are diseases characterized by various degrees of inflammation involving the gastrointestinal tract. Ulcerative colitis and Crohn's disease are characterized by a dysregulated immune response leading to structural gut alterations in genetically predisposed individuals. Diverticular disease is characterized by abnormal immune response to normal gut microbiota. IBDs are linked to a lack of physiological tolerance of the mucosal immune system to resident gut microbiota and pathogens. The disruption of immune tolerance involves inflammatory pathways characterized by an unbalance between the anti-inflammatory regulatory T cells and the proinflammatory Th1/Th17 cells. The interaction among T cell subpopulations and their related cytokines, mediators of inflammation, gut microbiota, and the intestinal mucosa constitute the gut “immunological niche.” Several evidences have shown that xenobiotics, such as rifaximin, can positively modulate the inflammatory pathways at the site of gut immunological niche, acting as anti-inflammatory agents. Xenobiotics may interfere with components of the immunological niche, leading to activation of anti-inflammatory pathways and inhibition of several mediators of inflammation. In summary, xenobiotics may reduce disease-related gut mucosal alterations and clinical symptoms. Studying the complex interplay between gut immunological niche and xenobiotics will certainly open new horizons in the knowledge and therapy of intestinal pathologies.

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“…It is a cytokine that mediates the interaction between leukocytes and plays an important role in the regulation of the immune response [11][12]. Studies have found that there are polymorphisms in the IL23 gene, which may affect gene transcription and expression and are associated with susceptibility to a variety of diseases, such as in ammatory bowel disease, multiple sclerosis, gout, psoriasis, and tumors [13][14][15][16][17][18]. A growing number of studies have also found that IL23 is involved in the immune response to TB [19].…”

Section: Discussionmentioning

confidence: 99%

Association between a single nucleotide polymorphism of the IL23R gene and severe tuberculosis: a case‒control study

Zhang

Wang

Xiang

et al. 2023

Preprint

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Background. Severe tuberculosis has a high mortality rate and poses a great threat to human safety. Host gene single nucleotide polymorphisms can influence the severity of tuberculosis. Methods. A case‒control study was conducted in 1137 patients with tuberculosis and 581 healthy controls with ages ranging from fifteen to forty-five years old. Among the tuberculosis patients, there were 558 severe and 579 mild cases.Whole blood DNA was extracted from all patients. Three tag polymorphisms (rs18844444, rs7518660, rs7539625) of the IL23R gene were selected and genotyped. Results. No significant association was found between rs18844444, rs7518660, and rs7539625 of the IL23R gene and tuberculosis infection. Even through the comparison of the tuberculosis group and healthy control group, mild tuberculosis group and healthy control group, and severe tuberculosis and healthy control group, we found that the P values were > 0.05 . However, in the comparison between severe tuberculosis and mild tuberculosis, rs18844444 G alleles showed a significantly increased risk of severe tuberculosis infection after adjusting for age and sex (ORa: 1.199, 95% CI: 1.009-1.424; Pa=0.039, respectively). In the subgroup analysis, rs18844444 of the IL23R gene showed a significant association with the risk of severe tuberculosis infection in the comparison between severe pulmonary tuberculosis and mild tuberculosis after adjusting for age and sex (ORa: 1.301, 95% CI: 1.030-1.643; Pa=0.027, respectively). The rs18844444 G allele also showed a significantly increased risk of severe tuberculosis infection after adjusting for age and sex in a comparison between tuberculous meningitis and mild tuberculosis (ORa: 1.646, 95% CI: 1.100-2.461; Pa=0.015, respectively). Conclusions. IL23R gene polymorphism is not associated with tuberculosis susceptibility in the Chinese Han population but may be associated with an increased risk of severe tuberculosis infection.

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Analysis of the association of single nucleotide polymorphisms of interleukin-23 receptor (IL-23R) and inflammatory bowel disease in a Chinese Han cohort

Cited by 9 publications

References 34 publications

Polymorphisms of the TNF Gene and Three Susceptibility Loci Are Associated with Crohn’s Disease and Perianal Fistula Crohn’s Disease: A Study among the Han Population from South China

Polymorphisms of the TNF Gene and Three Susceptibility Loci Are Associated with Crohn’s Disease and Perianal Fistula Crohn’s Disease: A Study among the Han Population from South China

The Intricate Link among Gut “Immunological Niche,” Microbiota, and Xenobiotics in Intestinal Pathology

Association between a single nucleotide polymorphism of the IL23R gene and severe tuberculosis: a case‒control study

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