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Objective To investigate the relationship between forkhead/winged helix transcription factor (Foxp) 3 gene polymorphisms and susceptibility and phenotype of Crohn's disease (CD) in Han nationality in Zhejiang province.Methods From January 2007 to December 2015,268 diagnosed CD patients and 490 healthy controls were enrolled.The four single nucleotide polymorphism (SNP) of Foxp3 rs3761547,rs2232365,rs2294021 and rs3761548 were examined by a SNaPshot technique,and their relation with the efficacy of infliximab was evaluated.The linkage disequilibrium (LD) and haplotype were also analyzed.Unconditional Logistic regression analysis was performed for statistical analysis.Results There was no significant difference in the four mutant alleles and genotype frequencies between 31 patients with effective infliximab treatment and 19 patients with ineffective treatment (all P＞0.05).The results of LD analysis indicated that the above four SNP were in a tight linkage.The frequency of haplotype GCGC of male CD group was 29.20％ (40/137),which was higher than that of male healthy control group (19.37％,43/222),and the difference was statistically significant (odd ratio (OR)=1.717,95％ confidence interval (CI) 1.045 to 2.820,P=0.032).The frequency of haplotype ACGA of female CD group was 13.36％ (35/262),which was lower than that of female healthy control group (19.03％,102/536),and the difference was statistically significant (OR=0.656,95％CI 0.433 to 0.995,P=0.046).The frequency of haplotype ATAC of male colon (L2) type was 25.93％ (7/27),which was lower than that of ileocecal colon (L3) type (75.38％,49/65),and the difference was statistically significant (OR=0.114,95％CI 0.041 to 0.320,P＜0.01).The frequency of haplotype GCGC of male L2 type was 51.85％ (14/27),which was higher than that of L3 type (9.23％,6/65),and the difference was statistically significant (OR=10.590,95％CI 3.423 to 32.758,P＜0.01).The frequency of haplotype ATAC of male stenotic (B2) type was 73.21％ (41/56),which was higher than that of nonstenotic and nonpenetrated (B1) type (47.30％,35/74),and the difference was statistically significant (OR=0.328,95％CI 0.156 to 0.693,P=0.003).The frequency of haplotype GCGC of male B2 type was 17.86％ (10/56) which was lower than that of nonstenotic and nonpenetrated (B1) type (39.19％,29/74),and the difference was statistically significant (OR=2.946,95％CI 1.295 to 6.784,P=0.009).The frequency of haplotype ACGA of male penetrated (B3) type was 71.43％ (5/7),which was higher than that of nonstenotic and nonpenetrated (B1) type (12.16％,9/74),and the difference was statistically significant (OR =0.055,95％ CI 0.009 to 0.329,P ＜ 0.01).Conclusion Foxp3 (rs3761547,rs2232365,rs2294021,rs3761548) gene polymorphisms are associated with the susceptibility and phenotype of CD in Chinese Han patients,but not related with the efficacy of infliximab.
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Objective To explore the relation between genetic polymorphisms and the expression in colonic tissues of solute-linked carrier family 26 member A3 (SLC26A3) and susceptibility of Crohn's disease (CD) in Han population of Zhejiang Province.Methods A total of 265 CD patients and 566 gender-and age-matched healthy individuals were enrolled.Alleles and genotypes of SLC26A3 (rs17154444,rs7810937,rs7785539,rs2108225,rs6951457) were examined by SNaPshot.The linkage disequilibrium (LD) and haplotype were also analyzed.Eight patients with colonic CD and eight genderand age-matched patients with benign colonic polyps (control group) were selected.The expression level of SLC26A3 protein in the colonic tissue was detected by immunohistochemistry.T test and rank-sum test were performed for statistical analysis.Unconditional Logistic regression analysis was used to analyze the distributions of SLC26A3 polymorphisms and their effects on the clinicopathological features of CD patients.Results The frequencies of mutant allele of rs2108225,rs7785539 and rs6951457 of the CD group were 53.77％ (285/530),4.72％ (25/530) and 2.83％ (15/530),and the frequencies of mutant genotype were 76.23 ％ (202/265),9.43 ％ (25/265) and 5.66 ％ (15/265),which were lower than those of the control group (60.95％,690/1 132;8.13％,92/1 132;6.10％,69/1 132;83.92％,475/566;15.37％,87/566 and 11.84％,67/566),and the differences were statistically significant (all P＜0.05).The frequencies of mutant allele of rs17154444 and rs7810937 of the CD group were 10.19％ (54/530) and 34.91 ％ (185/530),and the frequencies of mutant genotype were 18.49 ％ (49/265) and 56.23 ％ (149/ 265),compared with those of the control group (8.30％,94/1 132;30.92％,350/1 132;15.55％,88/566 and 51.77％,293/566),the differences were not statistically significant (all P＞0.05).The frequency of mutant allele G of rs2108225 in patients with ileal CD was 47.89 ％ (91/190),and the frequency of mutant genotypeAG+GG was 65.26％(62/95),which were both lower than those of colonic CD (61.62％,122/198 and 85.86％,85/99),and the differences were statistically significant (both P＜0.012 5).rs7810937,rs7785539 and rs2108225 were in a strong linkage disequilibrium.The frequencies of haplotypes AGG and ACA of the CD group were 53.96％ (286/530) and 4.34％ (23/530),which were lower than those of the control group (60.07％,680/1 132 and 7.51％,85/1 132),and the differences were statistically significant (52 =5.534,P=0.019;x2 =5.967,P=0.015).And the frequency of haplotype AGA of the CD group was 8.30％ (44/530),which was higher than that of the control group (1.15％,13/1 132),and the difference was statistically significant (x2 =7.793,P＜0.01).Furthermore,the expression level of SLC26A3 protein in colonic tissues of eight colonic CD patients was 0.19±0.07,which was lower than that of patients with benign colonic polyps (0.26 ±-0.03),and the difference was statistically significant (t=2.55,P=0.023).In addition,the expression levels of SLC26A3 protein in patients carrying genotype GG or AG of rs2108225 were 0.19±0.03 and 0.10±0.01,respectively,which were lower than that of patients carrying genotype AA (0.26± 0.02),and the differences were statistically significant (t=3.19,P=0.033;t=9.06,P=0.003).Conclusions The genetic polymorphismns and their haplotypes of SLC26A3 (rs7785539,rs2108225 and rs6951457) are associated with the susceptibility of CD,and SLC26A3 (rs2108225) polymorphism may affect the expression level of SLC26A3 protein in the colonic tissues.
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Objective To investigate the relationship between gene polymorphisms of T cell immunoglobulin domain and mucin domain protein-3 (Tim-3) and ulcerative colitis (UC) in Han nationality of Zhejiang.Methods A total of 391 UC patients and 573 healthy controls were recruited.Two single nucleotide polymorphisms (SPNs) of Tim-3 (rs1036199 and rs10515746) were examined by the improved multiple ligase detection reaction technique.Chi-square test or Fisher's exact test was performed to analyze the differences in the distribution of Tim-3 gene polymorphisms and its influence on the location and severity.Haploview 4.2 software was used to analyze linkage disequilibrium (LD) and haplotype.Results The frequencies of genotype CA+AA and mutant allele A of rs10515746 in UC were lower than those in healthy controls (1.79％,7/391 vs 4.19％,24/573;0.90％,7/782 vs 2.18％,25/1 146;x2=4.295 and 4.712,P=0.038 and 0.030).However,there was no significant differences in frequencies of genotype CA+ CC and mutant allele C of gene rs1036199 between UC patients and the healthy controls (1.79％,7/891 vs 8.49％,20/578;0.90％,7/782 vs 1.74％,20/1 146;both P＞0.05).The frequencies of genotype CA+AA and mutant allele A of rs10515746 in mild and moderate UC patients were both higher than those in severe UC patients (2.87 ％,7/244 vs 0;1.43 ％,7/488 vs 0),and the differences were statistically significant (Fisher's exact test,P=0.049 and 0.048).The analysis for LD indicated that rs1036199andrs10515746 were closeLD (D'=0.92,r2=0.72).Furthermore,the frequency of haplotype CA formed by the mutant alleles C and A of these two SNPs was lower in UC patients than that in healthy controls (0.64％,5/782 vs 1.74％,20/1 146),and the difference was statistically significant (x2 =4.441,P=0.035).Conclusions Tim-3 (rs10515746) gene mutation may not only decrease the incidence,but also reduce the severity of UC.Moreover,the haplotype CA formed by the mutant alleles of rs1036199 and rs10515746 may also reduce the incidence of UC.
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Objective To investigate the relationship between gene polymorphisms of T cell immunoglobulin domain and mucin domain protein-3 (Tim-3) and ulcerative colitis (UC) in Han nationality of Zhejiang.Methods A total of 391 UC patients and 573 healthy controls were recruited.Two single nucleotide polymorphisms (SPNs) of Tim-3 (rs1036199 and rs10515746) were examined by the improved multiple ligase detection reaction technique.Chi-square test or Fisher's exact test was performed to analyze the differences in the distribution of Tim-3 gene polymorphisms and its influence on the location and severity.Haploview 4.2 software was used to analyze linkage disequilibrium (LD) and haplotype.Results The frequencies of genotype CA+AA and mutant allele A of rs10515746 in UC were lower than those in healthy controls (1.79％,7/391 vs 4.19％,24/573;0.90％,7/782 vs 2.18％,25/1 146;x2=4.295 and 4.712,P=0.038 and 0.030).However,there was no significant differences in frequencies of genotype CA+ CC and mutant allele C of gene rs1036199 between UC patients and the healthy controls (1.79％,7/891 vs 8.49％,20/578;0.90％,7/782 vs 1.74％,20/1 146;both P＞0.05).The frequencies of genotype CA+AA and mutant allele A of rs10515746 in mild and moderate UC patients were both higher than those in severe UC patients (2.87 ％,7/244 vs 0;1.43 ％,7/488 vs 0),and the differences were statistically significant (Fisher's exact test,P=0.049 and 0.048).The analysis for LD indicated that rs1036199andrs10515746 were closeLD (D'=0.92,r2=0.72).Furthermore,the frequency of haplotype CA formed by the mutant alleles C and A of these two SNPs was lower in UC patients than that in healthy controls (0.64％,5/782 vs 1.74％,20/1 146),and the difference was statistically significant (x2 =4.441,P=0.035).Conclusions Tim-3 (rs10515746) gene mutation may not only decrease the incidence,but also reduce the severity of UC.Moreover,the haplotype CA formed by the mutant alleles of rs1036199 and rs10515746 may also reduce the incidence of UC.
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Objective To investigate the application value of Photoshop in grading invasive risk of gastric stromal tumors (GSTs). Methods EUS image of 97 cases of GSTs confirmed by pathological and immunohistochemical examination were collected. GSTs were divided into four groups (very low risk, low risk, intermediate risk, high risk) by tumor size, mitotic count and rupture of tumor. Mean gray value (intensity of echo) and gray value standard deviation (uniformity of echo) of EUS images of the lesions were determined by Photoshop and then the differences of each group were found by statistical analysis. Results It is difficult to differentiate EUS images of GSTs from each group by visual observation. The mean gray value of EUS image of very low risk group,low risk group, intermediate risk group and high risk group of GSTs respectively were (56.54 ± 6.10), (59.20 ± 7.51), (77.77 ± 10.90) and (83.43 ± 12.47). There was no significant difference between very low risk group and low risk group (P > 0.05). There was no significant difference between intermediate risk group and high risk group (P > 0.05). In addition, the others all had significantly different from that of each group (P 0.05). In addition, the others all had significantly different from that of each group (P < 0.05). Conclusions The higher risk of GSTs, the higher of echo intensity and the worse of echo uniformity under EUS. Photoshop combined with EUS is helpful for differentiating different risk of GSTs by analyzing mean gray value and gray value standard deviation of the lesions.
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Objective To improve detectable rate of gastric schwannoma by endoscopic ultrasonography (EUS). Method Clinical data and endoscopic ultrasonography (EUS) imaging features of 4 cases were retrospectively ana-lyzed which diagnosed as gastric schwannoma pathologically and immunohistochemically while diagnosed as gastric stromal tumor by EUS from May 2008 to June 2015 and reviewed the literature. Results 4 cases of gastric schwan-nomas are female and benign, all 4 lesions are solitary, 3 in gastric body, and 1 in fundus by endoscopic. By EUS, all lesions are originated from muscularis propria, hypoechoic change, even echoes and clear board without calcifica-tion or cystic changes. 2 cases have halo artifacts around the lesion. Literature review found that gastric schwannoma tended to occur in female, halo artifacts could be the feature of gastric schwannoma, calcification or cystic changes were rare in gastric schwannoma which were common in gastric stromal tumors. Conclusion It was difficult to distin-guish gastric schwannoma and gastric stromal tumors that originated from muscularis propria by EUS. For female patients with lesions originated from muscularis propria, originated from muscularis propria and occurred in gastric body, it was necessary to observe lesions whether there was being calcification or cystic and halo artifacts. Integrated all these performance, we should be in consideration of gastric stromal tumors, meanwhile, excluding the possibility of gastric schwannoma.
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Background:Endoscopic ultrasonography( EUS)is the first choice for examining submucosal protuberant lesions in the gastrointestinal tract,however,it is very difficult to differentiate gastric stromal tumor from gastric leiomyoma. Photoshop software now is tried to differentiate some easily misdiagnosed diseases. Aims:To investigate the value of Photoshop software in differentiating EUS image of gastric stromal tumor from gastric leiomyoma. Methods:EUS image of 118 cases of gastric stromal tumor and 42 cases of gastric leiomyoma confirmed by pathological and immunohistochemical examination were collected,mean gray value( intensity of echo)and gray value standard deviation( uniformity of echo)of EUS image of lesion were determined by Photoshop software,and the differentiation value was analyzed. Results:The mean gray value of EUS image of gastric stromal tumor was significantly higher than that of gastric leiomyoma(71. 94 vs. 48. 99,P<0. 01). The gray value standard deviation of EUS image of gastric stromal tumor was significantly higher than that of gastric leiomyoma(16. 63 vs. 9. 80,P<0. 01). Conclusions:Under EUS,gastric stromal tumor exhibits higher intensity of echo and less uniformity of echo than gastric leiomyoma. EUS combined with Photoshop software is helpful for differentiating gastric stromal tumor from gastric leiomyoma by analyzing mean gray value and gray value standard deviation of the lesion.