PT -期刊文章盟-托马斯·梁盟猫王侗族非盟-圣文德Ip AU -文森特霍奇金淋巴瘤。Ip AU - Yannie OY。秀盟——罗纳德·连续波。马AU -理查德千瓦。白菜TI -单核苷酸多态性与大型动脉疾病在颅内动脉粥样硬化疾病白种人还重要?(S54.004) DP - 2018年4月10 TA -神经病首页学PG - S54.004 VI - 90 IP - 15补充4099 - //www.ez-admanager.com/content/90/15_Supplement/S54.004.short 4100 - //www.ez-admanager.com/content/90/15_Supplement/S54.004.full所以Neurology2018 4月10;90 AB -目的:颅内动脉粥样硬化疾病的遗传贡献知识(ICAD)稀缺。我们旨在执行ICAD病人的病例对照研究报道单核苷酸多态性(snp)。背景:颅内动脉粥样硬化性疾病(ICAD)在亚洲,拉美裔,和非洲裔美国人,但发生极其在白种人,表明ICAD可能有种族差异基因的贡献。最近的基因关联研究证明HDAC9等与白种人的大型动脉疾病密切相关。我们旨在执行ICAD病人的病例对照研究报道单核苷酸多态性(snp)。Design/Methods: We performed DNA extraction from peripheral blood and saliva of 156 ICAD patients and 245 age-matched controls. All patients had a high-grade symptomatic steno-occlusive lesion in cerebral angiograms, but without extracranial carotid stenosis. We conducted genotyping on a Sequenom platform for 14 SNPs known to be associated with ischemic strokes and large artery disease. Chi-square testing was performed for each SNP.Results: The allele frequencies of rs11621377 and rs2383207 were significantly higher in cases from the controls: rs11681377 (p=0.0001; OR 2.23 (95% C.I.: 1.66–2.98) and rs2383207 (p=0.0001; OR 2.27 (95% C.I.: 1.70–3.03)). In addition, the incidence of SNP carriers of these two SNPs were also significantly higher: rs11681377 (p=0.0008; OR 2.10 (95%C.I.: 1.37–3.22) and rs2383207 (p=0.0001; OR 2.46 (95%C.I.:1.56–3.81)). However, both of the allele frequencies and allele carriers of rs6843082 (PITX2) and rs2107595 (HDAC9), which are known to be highly associated with large artery disease in Caucasians, were not significantly different between the two groups.Conclusions: We identified two SNPs that were highly associated with ICAD but were not of the highest fold-change in the reported studies. The absence of association with PITX2 or HDAC9 suggested that the genetic risk factors of ICAD might be significantly different from those contributing to large artery disease in Caucasians.Disclosure: Dr. Leung has nothing to disclose. Dr. Dong has nothing to disclose. Dr. Ip has nothing to disclose. Dr. Ip has nothing to disclose. Dr. Soo has nothing to disclose. Dr. Ma has nothing to disclose. Dr. Choy has nothing to disclose.