白细胞介素 23 受体的非同义变异与女性家族性和散发性炎症性肠病的遗传关联。

Genetic association of nonsynonymous variants of the IL23R with familial and sporadic inflammatory bowel disease in women.

机构信息

Department of Surgery, College of Medicine, The Pennsylvania State University, Hershey, PA 17033, USA.

出版信息

Dig Dis Sci. 2010 Mar;55(3):739-46. doi: 10.1007/s10620-009-0782-8. Epub 2009 Mar 18.

DOI:10.1007/s10620-009-0782-8

PMID:19294505

Abstract

PURPOSE

To replicate the association of IL23R R381Q (rs11209026) with inflammatory bowel disease (IBD), examine the effect of the two nonsynonymous variations, Q3H and L310P, on IBD, and to study gender distribution of these variants in IBD patients.

RESULTS

IL23R R381Q was associated with Crohn's disease (CD) (P = 0.010), but not with ulcerative colitis (UC); L310P was associated with UC (P = 0.004), but not with CD; no association was observed for Q3H with CD or UC. A female-specific association of R381Q with CD (P = 0.041), and of L310P with UC (P = 0.008) was observed.

CONCLUSION

We replicated the association of IL23R R381Q with CD but not UC, and we observed an association of L310P with UC, but not CD, in a central Pennsylvania population. Further analysis of the distribution of IL23R variants revealed that these effects were largely female-specific. The results suggest that IL23R R381Q confers protection against CD and that L310P confers protection against UC in females.

摘要

目的

复制白细胞介素 23 受体 R381Q（rs11209026）与炎症性肠病（IBD）的关联，研究两种非同义变异 Q3H 和 L310P 对 IBD 的影响，并研究这些变异在 IBD 患者中的性别分布。

结果

白细胞介素 23 受体 R381Q 与克罗恩病（CD）相关（P = 0.010），但与溃疡性结肠炎（UC）无关；L310P 与 UC 相关（P = 0.004），但与 CD 无关；Q3H 与 CD 或 UC 均无关联。观察到 R381Q 与 CD（P = 0.041）以及 L310P 与 UC（P = 0.008）的女性特异性关联。

结论

我们在宾夕法尼亚州中部人群中复制了白细胞介素 23 受体 R381Q 与 CD 的关联，但与 UC 无关，并且观察到 L310P 与 UC 相关，而与 CD 无关。对白细胞介素 23 受体变异分布的进一步分析表明，这些影响主要是女性特异性的。结果表明，IL23R R381Q 可预防 CD，而 L310P 可预防女性 UC。