Association between genetic polymorphisms in interferon regulatory factor 5 (IRF5) gene and Malaysian patients with Crohn's disease
Association between genetic polymorphisms in interferon regulatory factor 5 (IRF5) gene and Malaysian patients with Crohn's disease
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DOI：
10.1111/1751-2980.12229
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发表时间：
2015-04-01
影响因子：
3.5
通讯作者：
Kee, Boon Pin
中科院分区：
文献类型：
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作者：
Chua, Kek Heng;Lian, Lay Hoong;Kee, Boon Pin
目的研究干扰素调节因子5 （IRF5）基因多态性与马来西亚人群克罗恩病（CD）发病之间的关系。方法采用常规的苯酚-氯仿提取法，对91例CD患者和100例健康人的血液样本进行基因组DNA提取。采用TaqMan基因分型技术，在实时聚合酶链式反应（PCR）热循环仪上筛选rs3807306、rs4728142、rs10954213和rs11770589四个目标单核苷酸多态性（snp）。随后对获得的遗传数据进行统计分析，以将snp与马来西亚人群中CD的发病联系起来。通过常规PCR扩增SNP位点和DNA测序，进一步对基因分型分析和数据进行选择性验证。结果rs3807306 G等位基因是CD的危险因素（OR 2.3630, P = 0.00004），而纯合子T基因型对CD有保护作用（OR 0.2038, P = 0.00004）。rs10954213杂合子A/G基因型与CD呈显著相关（OR 4.319, P = 0.0377）。另一方面，rs11770589的纯合A和杂合A/G基因型在对照组和患者中分别显著（OR 0.4242, P = 0.0166）和显著（OR 2.000, P = 0.0179）。在种族分层分析中，rs11770589纯合A基因型在印度人中具有保护作用（OR 0.1551, P = 0.0112）。结论irf5基因多态性可能与马来西亚人群CD的发生有关。
ObjectiveThe study aimed to investigate the association between the interferon regulatory factor 5 (IRF5) gene polymorphisms and the onset of Crohn's disease (CD) in a Malaysian cohort.MethodsGenomic DNA was extracted from blood samples collected from 91 CD patients and 100 healthy individuals via a conventional phenol-chloroform extraction method. Screening of the four target single nucleotide polymorphisms (SNPs), including rs3807306, rs4728142, rs10954213 and rs11770589 was carried out in a real-time polymerase chain reaction (PCR) thermal cycler using TaqMan genotyping assay. The genetic data obtained was subsequently subjected to statistical analysis to relate the SNPs to the onset of CD in the Malaysian population. The genotyping assay and data were further validated selectively by conventional PCR amplification of the SNP sites and DNA sequencing.ResultsThe rs3807306 G allele was a risk factor for CD (OR 2.3630, P = 0.00004), whereas the homozygous T genotype was protective against the disease (OR 0.2038, P = 0.00004). The heterozygous A/G genotype of rs10954213 was significantly associated with CD (OR 4.319, P = 0.0377). On the other hand, the homozygous A and heterozygous A/G genotypes of the rs11770589 were significant in the controls (OR 0.4242, P = 0.0166) and patients (OR 2.000, P = 0.0179), respectively. In the ethnic-stratification analysis, the rs11770589 homozygous A genotype was protective in Indians (OR 0.1551, P = 0.0112).ConclusionIRF5 gene polymorphisms may play a role in the development of CD in the Malaysian population.