Confirmation of three inflammatory bowel disease susceptibility loci in a Chinese cohort

被引：39

作者：

Lv, Chaolan ^{[1
]}

Yang, Xiaoming ^{[1
]}

Zhang, Yiyang ^{[1
]}

Zhao, Xinmei ^{[1
]}

Chen, Zhengyan ^{[1
]}

Long, Jinghua ^{[1
]}

Zhang, Yingchun ^{[1
]}

Zhong, Changqing ^{[1
]}

Zhi, Jia ^{[1
]}

Yao, Guopeng ^{[1
]}

Jiang, Bo ^{[1
]}

Zhi, Fachao ^{[1
]}

机构：

[1] So Med Univ, Guangdong Prov Key Lab Gastroenterol, Dept Gastroenterol, Nanfang Hosp, Guangzhou 510515, Guangdong, Peoples R China

来源：

INTERNATIONAL JOURNAL OF COLORECTAL DISEASE | 2012年 / 27卷 / 11期

关键词：

Inflammatory bowel diseases; Nucleotide-binding oligomerization domain containing 2; Interleukin; 23; receptor; Protein tyrosine phosphatase N2; GENOME-WIDE ASSOCIATION; CROHNS-DISEASE; ULCERATIVE-COLITIS; JAPANESE PATIENTS; GENETIC-VARIANTS; NOD2/CARD15; GENE; COMMON DISEASES; MUTATIONS; NOD2; IL23R;

D O I：

10.1007/s00384-012-1450-6

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

100201 [内科学];

摘要：

Recent genome-wide association studies have identified a number of inflammatory bowel diseases (IBD) susceptibility loci in White populations. The aim of our study was to evaluate whether these susceptibility loci also existed in a Chinese Han IBD population. Peripheral blood DNA samples from groups of patients with Crohn's disease (CD) (n = 48), ulcerative colitis (UC) (n = 49), and healthy controls (n = 50) were genotyped for eight genes. Then, an extended analysis of the relationship between genotype and phenotype was performed. NOD2-P268S (P = 0.025) was found to contribute susceptibility to CD in the Chinese population. IL23R-rs11805303 was detected to confer a strong protective effect against UC (P = 0.010), whereas PTPN2-rs2542151 was significantly associated with an increased risk of UC (P = 0.001). Further phenotype-genotype analysis revealed that P268S was associated with early age of onset (P = 0.028), ileal disease (P = 0.003), and enteric cavity narrowing (P = 0.007). The study indicates that IL23R-rs11805303 and PTPN2-rs2542151 might contribute to the development of UC and NOD2-P268S might be involved in the etiology of CD in the Chinese Han population.

引用

页码：1465 / 1472

页数：8

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