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RANTES 基因启动子多态性与北方汉族人群动脉粥样硬化性血栓性脑梗死的风险相关。

The RANTES gene promoter polymorphisms are associated with the risk of atherothrombotic cerebral infarction in Northern Han Chinese.

机构信息

Department of Neurology, The First Hospital of China Medical University, Shenyang 110001, China.

出版信息

Clin Chim Acta. 2011 May 12;412(11-12):1112-5. doi: 10.1016/j.cca.2011.02.033. Epub 2011 Mar 3.

DOI:10.1016/j.cca.2011.02.033
PMID:21376715
Abstract

BACKGROUND

Regulated upon activation, normal T-cell expressed and secreted (RANTES) plays an important role in the inflammatory process. This study is aimed at evaluating the potential association of the -403G/A (rs2107538) and -28C/G (rs2280788) polymorphisms of the RANTES gene promoter with the risk of atherothrombotic cerebral infarction (ACI) in Northern Han Chinese.

METHOD

A total of 314 patients with ACI and 389 unrelated aged-matched healthy controls were recruited. Their genotypes of the RANTES gene promoter -403G/A (rs2107538) and -28C/G (rs2280788) were analyzed by multiplex polymerase chain reaction (multiplex PCR) and multiplex SNaPshot analysis. The potential association of genotyping and allele frequencies with ACI in this population was assessed statistically.

RESULTS

The frequencies of -403AA genotype and A allele in ACI male patients were significantly higher than that in healthy controls (P=0.007, P=0.009, respectively). Female patients were not different. Multiple logistic regression analysis revealed that the -403AA genotype in males was significantly associated with an increased risk of ACI, even after adjusting for confounding factors (OR=4.344; 95% CI=1.969-9.582; P<0.001). Although there was no significant association of the -28C/G polymorphism with ACI, the A-(403)C-(28) haplotype was significantly associated with an increased risk of ACI in Han Chinese [OR=1.56, 95% CI=1.23-1.98, P<0.001].

CONCLUSIONS

Our data suggest that the -403AA genotype and A allele of the RANTES promoter were associated with increased risk for the development of ACI in male Northern Han Chinese.

摘要

背景

调节激活正常 T 细胞表达和分泌(RANTES)在炎症过程中发挥重要作用。本研究旨在评估 RANTES 基因启动子 -403G/A(rs2107538)和-28C/G(rs2280788)多态性与北方汉族人群动脉粥样硬化性脑梗死(ACI)风险的潜在关联。

方法

共纳入 314 例 ACI 患者和 389 名无关联的年龄匹配健康对照者。采用多重聚合酶链反应(multiplex PCR)和多重 SNaPshot 分析方法分析 RANTES 基因启动子-403G/A(rs2107538)和-28C/G(rs2280788)的基因型。统计学评估该人群中基因分型和等位基因频率与 ACI 的潜在关联。

结果

ACI 男性患者中-403AA 基因型和 A 等位基因的频率明显高于健康对照组(P=0.007,P=0.009)。女性患者无差异。多因素 logistic 回归分析显示,男性-403AA 基因型与 ACI 风险增加显著相关,即使在调整混杂因素后(OR=4.344;95%CI=1.969-9.582;P<0.001)。尽管-28C/G 多态性与 ACI 无显著关联,但 RANTES 启动子的 A-(403)C-(28)单倍型与汉族 ACI 风险增加显著相关[OR=1.56,95%CI=1.23-1.98,P<0.001]。

结论

本研究数据提示,RANTES 基因启动子-403AA 基因型和 A 等位基因与北方汉族男性 ACI 发病风险增加相关。

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