rs324015 Gene Polymorphism Increases Ulcerative Colitis Risk: A Case-Control Study.

Introduction: Phosphorylation of signal transducer and activator of transcription 6 (STAT6) in the colonic epithelium is elevated in ulcerative colitis (UC) patients, and its inhibition prevents IL-13-associated apoptosis and barrier disruption. Recently, the rs324015 polymorphism was reported to be related to genetic susceptibility to UC.

Methods: We examined rs324015 using the PCR-RFLP method in 268 UC cases and 357 controls. expression was determined by quantitative reverse-transcription PCR. The gene-environment interactions were addressed by cross-over analysis.

Results: We found that the rs324015 polymorphism enhanced the risk of UC under the homozygous, dominant, and allelic models. Further subgroup analyses indicated that this relationship was more evident in alcohol users, smokers, and those younger than 40 years. Cross-over analysis showed strong interactions of rs324015 with smoking/alcohol use. In addition, this polymorphism was associated with the severity, and location of UC. The GG genotype was significantly associated with increased gene levels.

Conclusion: In summary, the rs324015 polymorphism is related with predisposition to UC in a Chinese Han population.