@article {LeungS54.004作者={托马斯·梁和猫王盾和圣文德Ip和文森特霍奇金淋巴瘤。Ip和Yannie OY。秀和罗纳德·连续波。马和理查德千瓦。白菜},title = {snp与大型动脉疾病在颅内动脉粥样硬化疾病白种人还重要?体积(S54.004)} ={90} ={15}补充数量,elocation-id = {S54.004} ={2018},出版商= {Wolters Kluwer健康,公司代表美国神经病学学会},文摘={目的:颅内动脉粥样硬化疾病的遗传贡献知识(ICAD)稀缺。首页我们旨在执行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)。设计/方法:我们从外周血DNA进行提取和唾液156 ICAD病人和245个年龄组。 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{\textendash}2.98) and rs2383207 (p=0.0001; OR 2.27 (95\% C.I.: 1.70{\textendash}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{\textendash}3.22) and rs2383207 (p=0.0001; OR 2.46 (95\%C.I.:1.56{\textendash}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.}, issn = {0028-3878}, URL = {//www.ez-admanager.com/content/90/15_Supplement/S54.004}, eprint = {//www.ez-admanager.com/content}, journal = {Neurology} }