NOTCH3 gene polymorphism in Japanese stroke patients

CADASIL是由NOTCH 3的氨基酸取代的单一突变引起的。我们验证了一个假设，即NOTCH 3的多态性可能调节散发性脑血管病患者中风的发病年龄或腔隙的发生率。研究对象为111例散发性脑卒中患者和23例正常对照。卒中亚型为腔隙性梗死（L）（n=59）、动脉粥样硬化血栓性梗死（AT）（n=33）和心源性栓塞性梗死（CE）（n=19）。NOTCH 3第381位T等位基因在脑卒中组和正常对照组中的检出率分别为32.6%和33.3%（x= 0.01，p =0.92）。T等位基因在L、AT、CE和N各亚组中的分布频率分别为40.7%、30.3%、15.8%和32.6%，与对照组相比差异无统计学意义。684位A等位基因在脑卒中组和正常对照组中的检出率分别为8.1%和6.5%（x= 0.13，p =0.72）。A等位基因在各卒中亚型中的发生率与对照组无显著差异。我们的研究结果显示，在日本斯托克患者和正常对照中经常检测到NOTCH 3第3和第4外显子的多态性，但在日本患者中未观察到NOTCH 3多态性与散发性卒中之间的关联。

CADASIL is caused by a single mutation of NOTCH3 with substitution of amino acid. We tested a hypothesis that polymorphisms in NOTCH3 might modulate onset age of stroke or incidence of lacunae in sporadic cerebrovascular patients. Subjects were 111 sporadic stroke patients and 23 normal controls. Subtypes of stroke were lacunar infarction (L) (n=59), atherothrombotic infarction (AT) (n=33), and cardioembolic infarction (CE) (n=19). Incidences of T allele at 381 nucleotide of NOTCH3 in stroke patients and normal subjects were 32.6% and 33.3 %, respectively (x=0.01,p=0.92). T allele in each stroke subgroup was 40.7 % in L, 30.3 % in AT,15.8 % in CE, and 32.6 % in N, and these T allele frequencies were not different from control. Incidences of A allele at 684 nucleotide in stroke patients and normal subjects were 8.1 % and 6.5 %, respectively (x=0.13,p=0.72). Incidence of A allele in each stroke subtype did not significantly differ from control. Our results revealed that polymorphisms of NOTCH3 at exon3 and 4 was often detected in Japanese stoke patients as well as normal control, but no association was observed between NOTCH3 polymorphism and sporadic stroke in Japanese patients.