CAJ | 학술논문

目的：探讨MRAS基因多态性与青年缺血性卒中的关系。方法回顾性纳入2009年12月—2012年10月南京卒中注册系统中的243例青年缺血性卒中患者，同时选取512名年龄、性别相匹配的健康对照者。通过改良多重连接酶检测反应技术分析MRAS基因rs3755751和rs9289559位点的多态性，对各位点基因型、等位基因频率进行分析比较。结果（1）卒中组（243例）rs3755751位点基因型AA、AG和GG的频率分别为7.4％（18例）、37.0％（90例）和55.6％（135例），与对照组（512例）基因型频率[6.4％（33例）、36.9％（189例）和56.6％（290例）]比较，差异无统计学意义（P＞0.05）；卒中组rs9289559位点基因型AA、AG和GG的频率分别为7.0％（17例）、42.0％（102例）和51.0％（124例），与对照组基因型频率[6.1％（31例）、37.9％（194例）和56.1％（287例）]比较差异无统计学意义（P＞0.05）。（2）进一步构建效应模型[（AA比（AG＋GG）和GG比（AG＋AA）]，卒中组与对照组rs3755751和rs9289559位点差异亦无统计学意义（均P＞0.05）。分析不同基因型对血脂水平的影响，显示青年缺血性卒中组 rs3755751位点 GG基因型亚组高密度脂蛋白胆固醇水平明显高于AG＋AA基因型亚组（OR＝6.80，95％CI：2.18～21.27，P＝0.001）。结论 MRAS基因多态性可能与青年缺血性卒中的遗传易感性无明显相关性。rs3755751位点多态性可能与血清高密度脂蛋白胆固醇水平相关。
목적：탐토MRAS기인다태성여청년결혈성졸중적관계。방법회고성납입2009년12월—2012년10월남경졸중주책계통중적243례청년결혈성졸중환자，동시선취512명년령、성별상필배적건강대조자。통과개량다중련접매검측반응기술분석MRAS기인rs3755751화rs9289559위점적다태성，대각위점기인형、등위기인빈솔진행분석비교。결과（1）졸중조（243례）rs3755751위점기인형AA、AG화GG적빈솔분별위7.4％（18례）、37.0％（90례）화55.6％（135례），여대조조（512례）기인형빈솔[6.4％（33례）、36.9％（189례）화56.6％（290례）]비교，차이무통계학의의（P＞0.05）；졸중조rs9289559위점기인형AA、AG화GG적빈솔분별위7.0％（17례）、42.0％（102례）화51.0％（124례），여대조조기인형빈솔[6.1％（31례）、37.9％（194례）화56.1％（287례）]비교차이무통계학의의（P＞0.05）。（2）진일보구건효응모형[（AA비（AG＋GG）화GG비（AG＋AA）]，졸중조여대조조rs3755751화rs9289559위점차이역무통계학의의（균P＞0.05）。분석불동기인형대혈지수평적영향，현시청년결혈성졸중조 rs3755751위점 GG기인형아조고밀도지단백담고순수평명현고우AG＋AA기인형아조（OR＝6.80，95％CI：2.18～21.27，P＝0.001）。결론 MRAS기인다태성가능여청년결혈성졸중적유전역감성무명현상관성。rs3755751위점다태성가능여혈청고밀도지단백담고순수평상관。
Objective ToinvestigatetherelationshipbetweenmuscleRASoncogenehomolog (MRAS)genepolymorphismandyoungpatientswithischemicstroke.Methods Atotalof243young patients with ischemic stroke from Nanjing Stroke Registry Program from December 2009 to October 2012 were enrolled retrospectively. At the same time,512 age-and sex-matched healthy controls were selected. The polymorphisms of MRAS genes rs3755751 and rs9289559 loci were analyzed by the modified multiplex PCR-ligase detection reaction assay. The genotype of each locus and the allele frequencies were analyzed and compared. Results (1)The frequencies of AA,AG and GG genotypes for rs3755751 in the stroke group (n=243)were 7. 4%(n=18),37. 0%(n=90),and 55. 6%(n=135),respectively. There were no significant differences compared with those (6. 4%[n=18],36. 9%[n=189]and 56. 6%[n=190]) in the control group (n=512)(P>0. 05). The frequencies of AA,AG and GG genotypes for rs9289559 in stroke group were 7. 0 (n=17)%,42. 0%(n=102),and 51. 0%(n=124),respectively. There were no significant differences compared with 6. 1%,(n=31)37. 9%(n=194),and 56. 1%(n=287)in the control group (P>0. 05). (2)Further construction of an effect model (AA vs. AG+GG and GG vs. AG+AA),there was no significant difference between the stroke group and the control group (P >0. 05 ). Analyzing the effects of different genotypes on plasma lipid levels showed that the high-density lipoprotein cholesterol level of the GG genotype subgroup in the young ischemic stroke group was significantly higher than that rs3755751 of the AG +AA genotype subgroup (OR,6. 80,95%CI 2.18-21.27, P=0. 001 ). Conclusions MRAS gene polymorphism may have no significant correlation with the genetic susceptibility in young patients with ischemic stroke. Polymorphism of rs3755751 may be correlated with the level of serum high-density lipoprotein cholesterol.