CAJ | 학술논문

目的探讨NOTCH3基因外显子区rs1043996单核苷酸多态性与中国徐州地区小动脉闭塞型卒中（ SAO）的关系。方法采用病例-对照研究的方法，选取372例SAO患者作为病例组，其中首发性SAO 207例，复发性SAO 165例；另选206例健康体检者作为对照组，采用聚合酶链反应和限制性片段长度多态性方法，检测两组NOTCH3基因rs1043996位点单核苷酸多态性。结果两组均以CT基因型为主，SAO组TT基因型（28．5％对20．4％，χ2＝4．574， P＝0．032）和TT＋CT基因型（80．6％对67．0％，χ2＝13．468，P＝0．000）以及T等位基因（54．6％对43．7％，χ2＝9．337，P＝0．002）频率均显著高于对照组。首发性SAO组、复发性SAO组和对照组之间基因型分布频率（χ2＝15．041，P＝0．005）及T等位基因分布频率（χ2＝12．392，P＝0．002）存在显著差异，其中首发性SAO组TT＋CT频率（82．1％对67．0％，χ2＝12．475，P＝0．000）和T等位基因频率（55．8％对43．7％，χ2＝12．109，P＝0．001）及复发性SAO组TT＋CT频率（78．8％对67．0％，χ2＝6．358，P＝0．012）和T等位基因频率（51．5％对43．7％，χ2＝4．526，P＝0．033）均显著高于对照组。复发性 SAO 组 TT＋CT 基因型频率（χ2＝0．655，P＝0．418）和T等位基因频率（χ2＝1．406，P＝0．236）与首发性SAO组无显著差异。多变量Logistic回归分析显示，T等位基因是SAO的独立危险因素（优势比1．545，95％可信区间1．046～2．282；P＝0．029），但与SAO复发风险无关。结论 NOTCH3基因外显子区 rs1043996位点T等位基因可能与中国徐州地区人群SAO风险增高有关，但与该地区SAO复发无关。
목적탐토NOTCH3기인외현자구rs1043996단핵감산다태성여중국서주지구소동맥폐새형졸중（ SAO）적관계。방법채용병례-대조연구적방법，선취372례SAO환자작위병례조，기중수발성SAO 207례，복발성SAO 165례；령선206례건강체검자작위대조조，채용취합매련반응화한제성편단장도다태성방법，검측량조NOTCH3기인rs1043996위점단핵감산다태성。결과량조균이CT기인형위주，SAO조TT기인형（28．5％대20．4％，χ2＝4．574， P＝0．032）화TT＋CT기인형（80．6％대67．0％，χ2＝13．468，P＝0．000）이급T등위기인（54．6％대43．7％，χ2＝9．337，P＝0．002）빈솔균현저고우대조조。수발성SAO조、복발성SAO조화대조조지간기인형분포빈솔（χ2＝15．041，P＝0．005）급T등위기인분포빈솔（χ2＝12．392，P＝0．002）존재현저차이，기중수발성SAO조TT＋CT빈솔（82．1％대67．0％，χ2＝12．475，P＝0．000）화T등위기인빈솔（55．8％대43．7％，χ2＝12．109，P＝0．001）급복발성SAO조TT＋CT빈솔（78．8％대67．0％，χ2＝6．358，P＝0．012）화T등위기인빈솔（51．5％대43．7％，χ2＝4．526，P＝0．033）균현저고우대조조。복발성 SAO 조 TT＋CT 기인형빈솔（χ2＝0．655，P＝0．418）화T등위기인빈솔（χ2＝1．406，P＝0．236）여수발성SAO조무현저차이。다변량Logistic회귀분석현시，T등위기인시SAO적독립위험인소（우세비1．545，95％가신구간1．046～2．282；P＝0．029），단여SAO복발풍험무관。결론 NOTCH3기인외현자구 rs1043996위점T등위기인가능여중국서주지구인군SAO풍험증고유관，단여해지구SAO복발무관。
Objective To investigate the relationship between NOTCH 3 gene extron rs1043996 single nucleotide polymorphism and small artery occlusion stroke in the Chinese Han population in the region of Xuzhou . Methods 372 patients ( including 207 first-time SAO patients and 165 recurrent SAO patients ) with small artery occlusion stroke and 206 controls were recruited in the case-control study.Polymerase chain reaction and restricted fragment-length polymorphism ( PCR-RFLP ) were used to detect the single nucleotide polymorphisms ( SNP ) of the rs1043996 in NOTCH3 extron.Results The genotypes of the two groups mainly CT .The frequencies of genotype TT (28.5%vs.20.4%,χ2=4.574; P=0.032) and TT+CT (80.6%vs.67.0%, χ2=13.468, P=0.000), as well as allele T(54.6%vs.43.7%,χ2=9.337, P=0.002)in the small artery occlusion stroke group were significantly higher than those in the healthy control group .There was significant difference in NOTCH3 gene extron rs1043996 genotype frequencies (χ2=15.041, P=0.005) and allele T frequencies (χ2=12.392, P=0.002) among the groups of first-time SAO, recurrent SAO and control .The frequencies of genotype TT+CT ( 82.1%vs.67.0%, χ2=12.475, P=0.000)and allele T(55.8%vs.43.7%, χ2=12.109, P=0.001) in a first-time SAO group were significantly higher than those in the healthy control group , and the frequencies of genotype TT+CT(78.8%vs.67.0%,χ2=6.358, P=0.012)and allele T(51.5%vs.43.7%,χ2=4.526, P=0.033) in a current SAO group were significantly higher than those in the healthy control group .There was no significant difference in the frequencies of genotype TT +CT (χ2=0.655, P=0.418) and allele T(χ2=1.406,P=0.236) between the first-time SAO group and the current SAO group . Multivariate Logistic regression analysis showed that the allele T was an independent risk factor for small artery occlusion stroke (odds ratio,1.545,95%confidence interval 1.046-2.282;P=0.029), but it was not associated with the recurrent risk of small artery occlusion stroke .Conclusion The allele T of NOTCH3 gene extron rs1043996 may be associated with the increased risk of small artery occlusion stroke in the Chinese Han population in the region of Xuzhou, but they are not associated with the recurrence of small artery occlusion stroke in this region .