CAJ | 학술논문

目的：探讨 ATP 结合盒转运体(ATP binding cassette transporter, ABC)A1基因 R219K (rs2230806 G/A)多态性与中国汉族人群缺血性卒中的关联性。方法采用病例对照研究设计,选取360例缺血性卒中患者和358名健康体检者,病例组再根据 TOAST 标准分为大动脉粥样硬化性卒中(large artery atherosclerosis, LAA)和小动脉闭塞性卒中(smal artery occlusion, SAO)。采用聚合酶链反应-限制性片段长度多态性分析和直接测序法检测 ABCA1基因 R219K(rs2230806 G/A)多态性。结果以 GG 基因型为参照,AA 基因型可使缺血性卒中发病风险降低65%[优势比(odds ratio, OR)0．35,95%可信区间(confidence interval, CI)0．23~0．55；P <0．001),LAA 发病风险降低77%( OR 0．23,95% CI 0．13~0．40；P <0．001),但与 SAO 无显著相关性。 rs2230806 G/A多态性与吸烟、饮酒、高血压和糖尿病的交互作用对缺血性卒中的发病风险无显著影响(P 均>0．05)。 AA 基因型均可使病例组( OR 0．35,95% CI 0．28~0．42；P <0．001)和对照组( OR 0．19,95% CI 0．14~0．23； P <0．001)高密度脂蛋白胆固醇水平显著提高,而与低密度脂蛋白胆固醇、总胆固醇和三酰甘油无显著关联性。结论 ABCA1基因 R219K(rs2230806 G/A)多态性可能与中国汉族人群缺血性卒中易感性降低有关,特别是 LAA。 A 等位基因可能是遗传保护性因素,其机制可能与提高高密度脂蛋白胆固醇水平有关。
목적：탐토 ATP 결합합전운체(ATP binding cassette transporter, ABC)A1기인 R219K (rs2230806 G/A)다태성여중국한족인군결혈성졸중적관련성。방법채용병례대조연구설계,선취360례결혈성졸중환자화358명건강체검자,병례조재근거 TOAST 표준분위대동맥죽양경화성졸중(large artery atherosclerosis, LAA)화소동맥폐새성졸중(smal artery occlusion, SAO)。채용취합매련반응-한제성편단장도다태성분석화직접측서법검측 ABCA1기인 R219K(rs2230806 G/A)다태성。결과이 GG 기인형위삼조,AA 기인형가사결혈성졸중발병풍험강저65%[우세비(odds ratio, OR)0．35,95%가신구간(confidence interval, CI)0．23~0．55；P <0．001),LAA 발병풍험강저77%( OR 0．23,95% CI 0．13~0．40；P <0．001),단여 SAO 무현저상관성。 rs2230806 G/A다태성여흡연、음주、고혈압화당뇨병적교호작용대결혈성졸중적발병풍험무현저영향(P 균>0．05)。 AA 기인형균가사병례조( OR 0．35,95% CI 0．28~0．42；P <0．001)화대조조( OR 0．19,95% CI 0．14~0．23； P <0．001)고밀도지단백담고순수평현저제고,이여저밀도지단백담고순、총담고순화삼선감유무현저관련성。결론 ABCA1기인 R219K(rs2230806 G/A)다태성가능여중국한족인군결혈성졸중역감성강저유관,특별시 LAA。 A 등위기인가능시유전보호성인소,기궤제가능여제고고밀도지단백담고순수평유관。
Objective To investigate the correlation between R219K (rs2230806 G/A) polymorphism in the ATP binding cassette transporter (ABC) A1 gene and ischemic stroke in a Chinese Han population. Methods A total of 360 patients with ischemic stroke and 358 healthy subjects were selected using a case-control study design. The patients with ischemic stroke were redivided into either a large artery atherosclerosis (LAA) group or a smal artery occlusion (SAO) group according to the TOAST criteria. Polymerase chain reaction-restriction fragment length polymorphism analysis and direct sequencing method were used to detect R219K (rs2230806 G/A) polymorphism in the ABCA1 gene. Results Using GG genotype as a reference, the AA genotype reduced the risk of ischemic stroke by 65% (odds ratio [OR] 0. 35, 95%confidence interval [CI] 0. 23 - 0. 55; P < 0. 001) and the onset risk of LAA by 77% (OR 0. 23, 95% CI 0. 13 - 0. 40; P < 0. 001), but it did not have significant correlation with SAO. The interaction of rs2230806 G/A polymorphisms with smoking, drinking, hypertension, and diabetes had no significant effect on the on-set risk of ischemic stroke (al P > 0. 05). AA genotype was enable to increase the high-density lipoprotein cholesterol levels of the patient group (OR 0. 35, 95% CI 0. 28 - 0. 42; P < 0. 001) and the control group (OR 0. 19, 95% CI 0. 14 - 0. 23; P < 0. 001) significantly, while it did not have significant correlation with the low-density lipoprotein cholesterol, total cholesterol, and triglyceride. Conclusions R219K (rs2230806 G/A) polymorphism in the ABCA1 gene may be associated with the reduced predisposition of ischemic stroke in a Chinese Han population, especialy LAA. The A alele may be a hereditary protective factor; its mechanism may be associated with the increase of high-density lipoprotein cholesterol levels.