Association of inflammatory response gene polymorphism with atherothrombotic stroke in Northern Han Chinese

作者：Zhao, Jiuhan; Wang, Xiaohong; Xu, Jialiang; Li, Nan; Shang, Xiuli; He, Zhiyi^*; Yang, Jun

来源：Acta Biochimica et Biophysica Sinica, 2012, 44(12): 1023-1030.

DOI：10.1093/abbs/gms088

• inflammation
• polymorphism
• atherothrombotic stroke
• ALOX5AP
• PDE4D

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-1 (IL-1), 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-1-889C/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-1 (-889C/T) SNPs were associated with an increased risk of ATS in Northern Han Chinese.

• 出版日期2012-12
• 单位辽宁省人民医院; 中国医科大学