Investigation of inflammatory bowel disease risk factors in 4 families in central China.
Investigation of inflammatory bowel disease risk factors in 4 families in central China.
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中部地区4个家庭炎症性肠病危险因素调查
DOI：
10.3892/etm.2017.5582
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发表时间：
2018-03
影响因子：
2.7
通讯作者：
Li J
中科院分区：
文献类型：
--
作者：
Xu S;Zou H;Zhang H;Zhu S;Zhou R;Li J
炎症性肠病（IBD），包括克罗恩病（CD）和溃疡性结肠炎（UC）的患病率在中国显著增加。本研究对4个有IBD病史的家系进行了系谱分析，并探讨了遗传和环境因素与IBD易感性的关系。本研究共纳入10例IBD患者（8例CD患者和2例UC患者）和90名家庭成员。将家族性受试者的临床特征与散发性IBD患者的临床特征进行比较。在IBD患者中筛选先前报道的突变，即白细胞介素-10受体（IL-10 R）-A Thr 84 Ile、IL-10 RA Gly 141 Arg、IL-10 RB Trp 159 X、X连锁凋亡抑制剂（XIAP）Cys 203 Tyr、含核苷酸结合寡聚化结构域蛋白2（NOD 2）Arg 702 Trp、NOD 2 Gly 908 Arg和NOD 2 Leu 1007 fsinsC，并将患者与其未受影响的家庭成员之间的选定人口统计学因素进行比较。结果表明，IBD的遗传方式既有单基因遗传，也有多基因遗传。根据登记系统的数据，有IBD家族史的患者比例为1.25%，低于西方人群。一级亲属更容易感染IBD，兄弟姐妹更容易受到影响。此外，家族性患者的中位诊断年龄小于散发性患者（CD为29.0 vs. 36.0; UC为35.5 vs. 41.0）。然而，7个易感基因座均不存在于任何家族性患者中。移民是IBD的重要危险因素（比值比：4.667; 95%置信区间：1.165-18.690; P=0.021）。结论：中国IBD家系与西方人群存在遗传异质性。目前的研究结果表明，遗传背景和环境因素在IBD的发病机制中发挥作用。
The prevalence of inflammatory bowel disease (IBD), including Crohn's disease (CD) and ulcerative colitis (UC), is increasing markedly in China. The present study performed pedigree analysis of 4 families with a history of IBD and investigated the association of genetic and environmental factors with susceptibility to IBD. A total of 10 IBD patients (8 CD patients and 2 UC patients) and 90 family members were included in the present study. The clinical characteristics of familial subjects were compared with those of patients with sporadic IBD. Previously reported mutations, namely interleukin-10 receptor (IL10R)-A Thr84Ile, IL10RA Gly141Arg, IL10RB Trp159X, X-linked inhibitor of apoptosis (XIAP) Cys203Tyr, nucleotide-binding oligomerization domain-containing protein 2 (NOD2) Arg702Trp, NOD2 Gly908Arg and NOD2 Leu1007fsinsC, were screened in the patients with IBD, and selected demographic factors were compared between the patients and their unaffected family members. It was observed that single-gene and multi-gene inheritance patterns contributed to IBD in Chinese families. Based on data from the registry system, the ratio of patients with a family history of IBD was 1.25%, which was lower than that in the Western population. First-degree relatives were found to be more susceptible to IBD, and siblings were affected more frequently. Furthermore, the median age of diagnosis was younger in familial patients than in sporadic patients (29.0 vs. 36.0 for CD; 35.5 vs. 41.0 for UC). However, none of the 7 susceptibility loci were present in any of the familial patients. Immigration was a significant risk factor of IBD (odds ratio: 4.667; 95% confidence interval: 1.165–18.690; P=0.021). In conclusion, genetic heterogeneity exits between Chinese families with IBD and the Western population. The present findings suggest that genetic background and environmental factors serve a role in the pathogenesis of IBD.
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影响因子：
29.4
作者：
Ng, Siew C.;Tang, Whitney;Chan, Francis K. L.
通讯作者：
Chan, Francis K. L.
影响因子：
4.9
作者：
Lappalainen, Maarit;Halme, Leena;Paavola-Sakki, Paulina
通讯作者：
Paavola-Sakki, Paulina
影响因子：
24.5
作者：
Joossens, Marie;Huys, Geert;Vermeire, Severine
通讯作者：
Vermeire, Severine
影响因子：
29.4
作者：
Abreu, MT;Taylor, KD;Yang, HY
通讯作者：
Yang, HY
影响因子：
4.3
作者：
Halme, Leena;Paavola-Sakki, Paulina;Kontula, Kimmo
通讯作者：
Kontula, Kimmo