ObjectivesDysbiosis of intestinal microbiota has been implicated in ulcerative colitis (UC). Fucosyltransferase (FUT) 2 and FUT3 determine expression of histo-blood group antigens in the gut and may affect the intestinal microbiota. We investigated the association between FUT2 and FUT3 polymorphisms and UC in Chinese patients.MethodsWe genotyped FUT2 (rs281377, rs1047781 and rs601338) and FUT3 (rs28362459, rs3745635 and rs3894326) in 485 UC patients and 580 healthy controls using SNaPshot. We also evaluated expression of Lewis a and b antigens in the sigmoid colon of 7 UC patients and 7 patients with benign colonic polyps.ResultsThe frequencies of mutant allele (A) and genotype (GA+AA) in FUT3 (rs3745635) were higher in UC patients than controls (P = 0.016, 95%CI: 1.339–1.699; P = 0.038, 95%CI: 1.330–1.742, respectively). Stratified analyses revealed that the frequencies of mutant allele (G) and genotype (TG+GG) of FUT3 (rs28362459) were significantly lower in patients with extensive colitis than those with distal colitis (P<0.001, 95%CI: 0.503–0.742; P = 0.001, 95%CI: 0.567–0.786, respectively). Similar conclusions were drawn for the mutant allele (A) and genotype (GA+AA) of FUT3 (rs3745635) in patients with extensive colitis compared to those with distal colitis (P = 0.006, 95%CI: 0.553–0.845; P = 0.011, 95%CI: 0.621–0.900, respectively). Although expression of Lewis b antigen in the sigmoid colon did not differ between UC patients and controls, Lewis a antigen expression was higher in the cryptic epithelium of both inflammatory and non-inflammatory sigmoid colon of UC patients than controls (P = 0.028).ConclusionsOur findings indicated that polymorphisms in FUT3 and its intestinal expression might be associated with UC pathogenesis.

Vitamin D receptor (BsmI, ApaI, and TaqI) mutations and lower 25(OH)D levels are associated with CD in Chinese patients. Moreover, VDR (FokI, ApaI, and TaqI) mutations and vitamin D deficiency may have a combined impact on CD.

It has been reported that abnormal elevation of homocysteine is quite prevalent in ulcerative colitis (UC) patients. We attempted to explore the relationship of UC with transcobalamin II (TCN2) gene polymorphisms and serum homocysteine, vitamin B, and folate levels in Chinese patients. TCN2 (rs1801198, rs9606756) genotypes were detected by the improved multiple ligase detection reaction (iMLDR) technique in 527 UC patients and 574 controls. Moreover, 128 UC patients and 138 controls were randomly selected for the measurement of homocysteine, vitamin B, and folate levels by enzymatic cycling assay or chemiluminescence immunoassay. For TCN2 (rs1801198), the frequency of allele G and combined frequencies of CG and GG genotypes were increased in patients with mild, moderate, and severe UC compared with those with remission UC (all P < 0.001). The average homocysteine level was elevated (10.78 ± 3.33 vs 9.91 ± 2.88 μmol/L, P = 0.024), whereas the average vitamin B and folate levels were reduced (408.66 ± 185.00 vs 457.42 ± 206.47 pg/mL, P = 0.044; 6.81 ± 3.06 vs 8.17 ± 2.58 ng/mL, P < 0.001, respectively) in UC patients than in controls. Compared with controls, the prevalence of hyperhomocysteinemia (HHcy >15.0 μmol/L), vitamin B deficiency (<203.0 pg/mL), and folate deficiency (<4.0 ng/mL) was higher in UC patients (all P < 0.05). Both HHcy and folate deficiency were shown to be independent risk factors for UC (95% CI = 1.206-12.293, P = 0.023; 95% CI = 1.910-11.129, P = 0.001, respectively). TCN2 (rs1801198, rs9606756) mutations might aggravate the severity of UC. HHcy and folate deficiency are independent risk factors for UC.

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BackgroundFork head/winged helix transcription factor (Foxp3) plays a pivotal role in regulatory T (Treg) cells. The present study aimed to assess the association of Crohn's disease (CD) with Foxp3 polymorphisms and its colonic expression in Chinese patients.MethodsThe Foxp3 polymorphisms, rs3761547, rs2232365, rs2294021, and rs3761548, were examined by SNaPshot in 268 CD patients and 490 controls. The colonic expression levels of Foxp3, IL‐2, and IL‐4 were detected in 31 CD patients and 31 controls using real‐time quantitative polymerase chain reaction, immunohistochemistry, and enzyme‐linked immunosorbent assay.ResultsCompared to male controls, the proportion of variant allele of rs3761547 was increased in male patients. The variant alleles of rs3761547, rs2232365, and rs2294021 were less in male patients with stricturing CD compared to those with non‐stricturing, non‐penetrating CD; however, these variants were frequently detected in male patients with colonic CD than in those with ileocolonic CD. The variant allele of rs3761548 was increased in male patients with penetrating CD compared to those with non‐stricturing, non‐penetrating CD. The colonic expression of Foxp3 was higher in CD patients than in controls (both males and females). Compared to male patients carrying wild‐type alleles, the colonic expression of Foxp3 was downregulated in male patients with variant alleles, rs3761547, rs2232365, rs2294021, and rs3761548, respectively. However, the Foxp3 polymorphisms were not significantly related with the colonic expression levels of IL‐2 and IL‐4 in CD patients (both males and females).Conclusion Foxp3 polymorphisms might increase the CD susceptibility by reducing the colonic expression of Foxp3 in male patients.

Objectives: The study aimed to investigate the association of Crohn's disease (CD) with transcobalamin II (TCN2) polymorphisms and serum homocysteine, folate, and vitamin B₁₂ levels. Methods:TCN2 (rs1801198, rs9606756) were genotyped by iMLDR in 389 CD patients and 746 controls. Furthermore, 102 CD patients and 153 controls were randomly selected for examination of serum homocysteine, folate, and vitamin B₁₂ levels by enzymatic cycling assay and chemiluminescence immunoassay, respectively. Results: Mutant allele (G) and genotype (AG + GG) of (rs9606756) were higher in CD patients than in controls (both p < 0.05). So were they in ileocolonic CD patients and stricturing CD patients compared to controls (all p < 0.05). Mutant allele (G) and genotype (CG + GG) of (rs1801198) were more prevalent in stricturing CD patients than in controls (both p < 0.05). Compared to controls, average homocysteine level was enhanced in CD patients (p = 0.003), whereas average folate and vitamin B₁₂ levels were reduced in CD patients (both p < 0.001). The prevalence of hyperhomocysteinemia, folate deficiency, and vitamin B₁₂ deficiency was higher in CD patients than in controls (all p < 0.01). Both folate deficiency and vitamin B₁₂ deficiency were independently related to risk of CD (both p < 0.01). Conclusion:TCN2 (rs1801198, rs9606756) polymorphisms as well as folate deficiency and vitamin B₁₂ deficiency are correlated with CD.