Association of inflammatory response gene polymorphism with atherothrombotic stroke in Northern Han Chinese.
Association of inflammatory response gene polymorphism with atherothrombotic stroke in Northern Han Chinese.
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DOI：
10.1093/abbs/gms088
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发表时间：
2012-12
影响因子：
3.7
通讯作者：
Jiuhan Zhao;Xiaohong Wang;Jia-liang Xu;Nan Li;X. Shang;Zhiyi He;Jun Yang
中科院分区：
文献类型：
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作者：
Jiuhan Zhao;Xiaohong Wang;Jia-liang Xu;Nan Li;X. Shang;Zhiyi He;Jun Yang
动脉粥样硬化是动脉粥样硬化血栓形成性卒中（ATS）的重要病理生理基础，炎症在动脉粥样硬化的形成中起重要作用。本研究旨在探讨北方汉族人群中3个关键炎症相关基因5-脂氧合酶激活蛋白（ALOX 5AP）、磷酸二酯酶4D（PDE 4D）和白细胞介素-1 α（IL-1α）的单核苷酸多态性（SNP）与ATS的相关性。招募了682名ATS患者和598名无关对照。采用聚合酶链反应-限制性片段长度多态性和基质辅助激光解吸电离飞行时间质谱引物延伸法进行基因分型。统计分析各SNP的基因型和等位基因频率。发现ALOX 5AP SG 13 S114 A/T AA基因型有ATS风险（P = 0.040）和A等位基因PDE 4D SNP 83 C/T TT基因型SNP 219 A/G GG基因型（P = 0.025）和G等位基因（P = 0.022），IL-1α-889C/T T等位基因（P = 0.035）。调整后差异仍然显著。ALOX 5AP HapA单倍型与ATS不相关（P = 0.834），但GCGA代表风险单倍型（P = 0.008）。SNP 219 -220位点的PDE 4D AA单倍型可能是一种风险单倍型（P = 0.013），而GA单倍型可能是一种保护性单倍型（P = 0.005）。ALOX 5AP（SG 13 S114 A/T）、PDE 4D（SNP 83 C/T，219 A/G）和IL-1α（-889 C/T）SNPs与中国北方汉族人群中ATS风险增加相关。
Atherosclerosis is an important pathophysiological basis of atherothrombotic stroke (ATS), and inflammation plays a significant role in atherosclerosis formation. In this study, single-nucleotide polymorphisms (SNPs) in three key inflammation-related genes, 5-lipoxygenase activating protein (ALOX5AP), phosphodiesterase 4D (PDE4D), and interleukin-1α (IL-1α), were investigated to determine their association with ATS in Northern Han Chinese. Six-hundred and eighty-two ATS patients and 598 unrelated controls were recruited. Genotyping was performed by polymerase chain reaction-restriction fragment length polymorphism and matrix-assisted laser desorption ionization time-of-flight mass spectrometry primer extension. The genotype and allele frequencies of each SNP were statistically analyzed. Risk of ATS was found for the ALOX5AP SG13S114A/T AA genotype (P = 0.040) and A allele (P = 0.033), PDE4D SNP83C/T TT genotype (P = 0.010) and T allele (P = 0.008) and SNP219A/G GG genotype (P = 0.025) and G allele (P = 0.022), and the IL-1α-889C/T T allele (P = 0.035). The differences still remained significant after adjustment. The ALOX5AP HapA haplotype was not correlated with ATS (P = 0.834), but GCGA represented an at-risk haplotype (P = 0.008). Furthermore, the PDE4D AA haplotype at SNP219-220 might be an at-risk haplotype (P = 0.013), while GA might be a protective haplotype (P = 0.005). The ALOX5AP (SG13S114A/T), PDE4D (SNP83C/T, 219A/G), and IL-1α (-889C/T) SNPs were associated with an increased risk of ATS in Northern Han Chinese.