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氧化途径相关基因多态性与炎症性肠病易感性。

Polymorphisms in oxidative pathway related genes and susceptibility to inflammatory bowel disease.

机构信息

Laboratory of Genetic and Molecular Pathology, Faculty of Medicine and Pharmacy of Casablanca, Hassan II University, Casablanca 20100, Morocco.

Mohammed VI University of Health Sciences, Casablanca 20000, Morocco.

出版信息

World J Gastroenterol. 2017 Dec 21;23(47):8300-8307. doi: 10.3748/wjg.v23.i47.8300.

DOI:10.3748/wjg.v23.i47.8300
PMID:29307990
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5743501/
Abstract

AIM

To investigate whether common variants in the oxidative pathway genes influence inflammatory bowel disease (IBD) risk among Moroccan patients.

METHODS

The distribution of (TAAA)n_rs12720460 and (CCTTT)n _rs3833912 microsatellite repeats, -_rs11549467 and -94ins/delATTG_rs28362491 was analyzed in 507 subjects grouped in 199 IBD and 308 healthy controls. Genotyping was performed with polymerase chain reaction-fluorescent method and the TaqMan allelic discrimination technology.

RESULTS

The allele and genotype frequencies of _ rs11549467, _rs28362491 and _ (TAAA)n did not differ significantly between patients and controls. Analysis of _ (CCTTT)n markers evidenced differences between patients and healthy controls. A preferential presence of the (CCTTT)8 ( = 0.02; OR = 1.71, 95%CI: 1.07-2.74), (CCTTT)14 ( = 0.02; OR = 1.71, 95%CI: 1.06-2.76) alleles in IBD, (CCTTT)8 ( = 0.008; OR = 1.95, 95%CI: 1.17-3.23) in CD and (CCTTT)7 ( = 0.009; OR = 7.61, 95%CI: 1.25-46.08), (CCTTT)11 ( = 0.05; OR = 0.51, 95%CI: 0.25-1.01), (CCTTT)14 ( = 0.02; OR = 2.05, 95%CI: 1.07-3.94), (CCTTT)15 ( = 0.01; OR = 2.25, 95%CI: 1.16-4.35) repeats in UC patients indicated its possible association with higher disease risk which need to be confirmed in a larger sample size.

CONCLUSION

Our results suggest that the _ (CCTTT)n gene variations may influence IBD susceptibility in the Moroccan population.

摘要

目的

探讨氧化途径基因中的常见变异是否会影响摩洛哥患者的炎症性肠病（IBD）风险。

方法

将（TAAA）n_rs12720460 和（CCTTT）n _rs3833912 微卫星重复序列、-_rs11549467 和-94ins/delATTG_rs28362491 进行分析，将 507 名患者分为 199 名 IBD 患者和 308 名健康对照组。通过聚合酶链反应-荧光法和 TaqMan 等位基因鉴别技术进行基因分型。

结果

患者和对照组之间 _rs11549467、_rs28362491 和 _（TAAA）n 的等位基因和基因型频率没有显著差异。对 _（CCTTT）n 标记物的分析表明，患者与健康对照组之间存在差异。IBD 患者中（CCTTT）8（=0.02；OR=1.71，95%CI：1.07-2.74）、（CCTTT）14（=0.02；OR=1.71，95%CI：1.06-2.76）等位基因的存在频率较高，CD 中（CCTTT）8（=0.008；OR=1.95，95%CI：1.17-3.23），UC 中（CCTTT）7（=0.009；OR=7.61，95%CI：1.25-46.08）、（CCTTT）11（=0.05；OR=0.51，95%CI：0.25-1.01）、（CCTTT）14（=0.02；OR=2.05，95%CI：1.07-3.94）、（CCTTT）15（=0.01；OR=2.25，95%CI：1.16-4.35）重复序列的存在表明其可能与更高的疾病风险相关，这需要在更大的样本量中得到证实。

结论

我们的结果表明，_（CCTTT）n 基因变异可能影响摩洛哥人群的 IBD 易感性。