Pharmacogenomics and Personalized Medicine (Jan 2021)
STAT6 rs324015 Gene Polymorphism Increases Ulcerative Colitis Risk: A Case–Control Study
Abstract
Lingying Dai,1,* Dan Zhang,2,* Yunzhi Qian,2 Yemin Wan,2 Shuchen Chang,2 Haihua Qian2 1No. 1 Clinical Medical College, Nanjing University of Chinese Medicine, Nanjing, Jiangsu 210023, People’s Republic of China; 2Department of Colorectal Surgery, The Affiliated Hospital of Nanjing University of Chinese Medicine, Nanjing, Jiangsu 210029, People’s Republic of China*These authors contributed equally to this workCorrespondence: Haihua Qian Tel +86-025-86617141Fax +86-025-86617141Email [email protected]: 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 STAT6 rs324015 polymorphism was reported to be related to genetic susceptibility to UC.Methods: We examined STAT6 rs324015 using the PCR–RFLP method in 268 UC cases and 357 controls. STAT6 expression was determined by quantitative reverse-transcription PCR. The gene–environment interactions were addressed by cross-over analysis.Results: We found that the STAT6 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 STAT6 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 STAT6 gene levels.Conclusion: In summary, the STAT6 rs324015 polymorphism is related with predisposition to UC in a Chinese Han population.Keywords: STAT6, ulcerative colitis, case–control study, rs324015 polymorphism
