沙特阿拉伯人群中STAT-6 rs324011（C2892T）变异体而非rs324015（G2964A）变异体与特应性哮喘的关联。

Association of the STAT-6 rs324011 (C2892T) variant but not rs324015 (G2964A), with atopic asthma in a Saudi Arabian population.

作者信息

Al-Muhsen Saleh, Vazquez-Tello Alejandro, Jamhawi Amer, Al-Jahdali Hamdan, Bahammam Ahmed, Al Saadi Muslim, Iqbal Shaikh Mohammed, Alfrayh Abdulrahman, Afzal Sibtain, Al-Khamis Nouf, Halwani Rabih

机构信息

Prince Naif Center for Immunology Research, College of Medicine, King Saud University, Riyadh, Saudi Arabia; Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.

Prince Naif Center for Immunology Research, College of Medicine, King Saud University, Riyadh, Saudi Arabia.

出版信息

Hum Immunol. 2014 Aug;75(8):791-5. doi: 10.1016/j.humimm.2014.05.012. Epub 2014 Jun 6.

DOI:10.1016/j.humimm.2014.05.012

PMID:24912007

Abstract

BACKGROUND

The signal transducer and activator of transcription 6 (STAT6) transduces signals in response to IL-4 and IL-13 cytokine stimulations, resulting in many cell-specific responses. Some common STAT6 SNPs were associated with asthma predisposition and/or IgE levels, although discrepancies have also been reported.

OBJECTIVE

To determine whether STAT6 rs324011 and rs324015 polymorphisms are associated with atopic asthma in Saudi Arabian patients.

METHODS

A total of 536 Saudi individuals aged 11-70years old (230 atopic asthmatics, 306 healthy subjects) were recruited. DNA was purified from peripheral blood and genotyping for rs324011 and rs324015 polymorphisms was performed by PCR amplification, followed by cycle sequencing of the purified PCR fragments using BigDye chain terminator and capillary electrophoresis.

RESULTS

By the contrast of alleles tests, no significant differences between asthma and healthy groups were detected for both variants (rs324011: X(2)=0.25, Pearson's P-value=0.617; rs324015: X(2)=0.068, Pearson's P=0.814).When testing for genotypes, rs324011 homozygous T/T genotype was significantly associated with asthma, when the Recessive model is considered (T/T vs. C/C+C/T) (adjusted, OR=2.49, 95% CI=1.18-5.25, Pearson's P=0.014(∗), Yates' P=0.022(∗)). In contrast, rs324015 variant was not significantly associated with asthma.

CONCLUSIONS

Rs324011 homozygous T/T genotype was significantly associated with asthma risk whereas rs324015 genotypes were not in the Saudi population.

摘要

背景

信号转导及转录激活因子6（STAT6）可响应白细胞介素-4（IL-4）和白细胞介素-13（IL-13）细胞因子刺激转导信号，从而产生多种细胞特异性反应。一些常见的STAT6单核苷酸多态性（SNP）与哮喘易感性和/或免疫球蛋白E（IgE）水平相关，不过也有差异报道。

目的

确定STAT6 rs324011和rs324015多态性是否与沙特阿拉伯患者的特应性哮喘相关。

方法

共招募了536名年龄在11至70岁的沙特人（230名特应性哮喘患者，306名健康受试者）。从外周血中提取DNA，通过聚合酶链反应（PCR）扩增对rs324011和rs324015多态性进行基因分型，随后使用BigDye链终止剂对纯化的PCR片段进行循环测序并进行毛细管电泳。

结果

通过等位基因检测对比，两组变体在哮喘组和健康组之间均未检测到显著差异（rs324011：X(2)=0.25，Pearson P值=0.617；rs324015：X(2)=0.068，Pearson P=0.814）。在检测基因型时，当考虑隐性模型时，rs324011纯合T/T基因型与哮喘显著相关（T/T与C/C+C/T相比）（校正后，比值比（OR）=2.49，95%置信区间（CI）=1.18-5.25，Pearson P=0.014(∗)，Yates P=0.022(∗)）。相比之下，rs324015变体与哮喘无显著相关性。