Open AccessAssociation of Crohn's disease with Foxp3 gene polymorphisms and its colonic expression in Chinese patients
Author(s) -
Xia Shenglong,
Zhang Daguan,
Zheng Shuzi,
Wu Chaoqun,
Lin Qianru,
Ying Shijie,
Shao Xiaoxiao,
Jiang Yi
Publication year - 2019
Publication title -
journal of clinical laboratory analysis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.536
H-Index - 50
eISSN - 1098-2825
pISSN - 0887-8013
DOI - 10.1002/jcla.22835
Subject(s) - foxp3 , allele , crohn's disease , genotype , immunohistochemistry , medicine , gastroenterology , immunology , biology , disease , gene , genetics , immune system
Background Fork 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. Methods The Foxp3 polymorphisms, rs3761547, rs2232365, rs2294021, and rs3761548, were examined by SN aPshot 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. Results Compared 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.