中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2008年
3期
284-288
,共5页
张葵%邱方%李雷%顾光煜%陶月%王丽%罗浔阳%夏永泉
張葵%邱方%李雷%顧光煜%陶月%王麗%囉潯暘%夏永泉
장규%구방%리뢰%고광욱%도월%왕려%라심양%하영천
载脂蛋白A5%遗传多态性%单倍型%脑梗塞
載脂蛋白A5%遺傳多態性%單倍型%腦梗塞
재지단백A5%유전다태성%단배형%뇌경새
apolipoprotein A5%genetics polymorphism%haplotype%cerebral infarction
目的 分析中国江苏地区汉族人群载脂蛋白A5(apolipoprotein A5,apoA5)-1131T＞C和c.553G＞T两位点基因多态性及单倍型与脑梗塞的关系.方法 采用聚合酶链反应-限制性片段长度多态性技术分别检测272例脑梗塞患者和316名对照者apoA5-1131T＞C和c.553G＞T两位点变异,用SNPA-lyze V6.0软件构建并分析两多态性位点的个体单倍型;通过生化检测和病历调查方式分别获得研究对象的血脂水平和相关临床资料.结果 -1131CC基因型人群患脑梗塞的风险较-1131T等位基因携带者高出2.10倍(95%CI:1.01～4.37).在对照人群和脑梗塞患者中T-G和C-G单倍型分布频率的差异均具有统计学意义(P＜0.05);C-G和T-G单倍型携带者患脑梗塞的风险分别要比其他单倍型携带者高出1.34倍和0.71倍(95%CI:1.02～1.76和0.55～0.92).T-G*T-G、T-G*C-G、T-G*C-T、C-G*C-G 4种常见的单倍型配对间血清TG水平差异存在统计学意义(P＜0.05).结论 江苏地区汉族人群载脂蛋白A5基因-1131T＞C与脑梗塞可能存在一定的关联性,但血脂对其的影响不容忽视.
目的 分析中國江囌地區漢族人群載脂蛋白A5(apolipoprotein A5,apoA5)-1131T＞C和c.553G＞T兩位點基因多態性及單倍型與腦梗塞的關繫.方法 採用聚閤酶鏈反應-限製性片段長度多態性技術分彆檢測272例腦梗塞患者和316名對照者apoA5-1131T＞C和c.553G＞T兩位點變異,用SNPA-lyze V6.0軟件構建併分析兩多態性位點的箇體單倍型;通過生化檢測和病歷調查方式分彆穫得研究對象的血脂水平和相關臨床資料.結果 -1131CC基因型人群患腦梗塞的風險較-1131T等位基因攜帶者高齣2.10倍(95%CI:1.01～4.37).在對照人群和腦梗塞患者中T-G和C-G單倍型分佈頻率的差異均具有統計學意義(P＜0.05);C-G和T-G單倍型攜帶者患腦梗塞的風險分彆要比其他單倍型攜帶者高齣1.34倍和0.71倍(95%CI:1.02～1.76和0.55～0.92).T-G*T-G、T-G*C-G、T-G*C-T、C-G*C-G 4種常見的單倍型配對間血清TG水平差異存在統計學意義(P＜0.05).結論 江囌地區漢族人群載脂蛋白A5基因-1131T＞C與腦梗塞可能存在一定的關聯性,但血脂對其的影響不容忽視.
목적 분석중국강소지구한족인군재지단백A5(apolipoprotein A5,apoA5)-1131T＞C화c.553G＞T량위점기인다태성급단배형여뇌경새적관계.방법 채용취합매련반응-한제성편단장도다태성기술분별검측272례뇌경새환자화316명대조자apoA5-1131T＞C화c.553G＞T량위점변이,용SNPA-lyze V6.0연건구건병분석량다태성위점적개체단배형;통과생화검측화병력조사방식분별획득연구대상적혈지수평화상관림상자료.결과 -1131CC기인형인군환뇌경새적풍험교-1131T등위기인휴대자고출2.10배(95%CI:1.01～4.37).재대조인군화뇌경새환자중T-G화C-G단배형분포빈솔적차이균구유통계학의의(P＜0.05);C-G화T-G단배형휴대자환뇌경새적풍험분별요비기타단배형휴대자고출1.34배화0.71배(95%CI:1.02～1.76화0.55～0.92).T-G*T-G、T-G*C-G、T-G*C-T、C-G*C-G 4충상견적단배형배대간혈청TG수평차이존재통계학의의(P＜0.05).결론 강소지구한족인군재지단백A5기인-1131T＞C여뇌경새가능존재일정적관련성,단혈지대기적영향불용홀시.
Objective To investigate the association of-1131T>C and c.553G>7 polymorphisms and theirhaplotypes in apohpoprotein A5(ApoA5)gene with cerebemvascular disease in Chinese.Methods Using polymerase chain reaction-restriction fragment length polymorphism(PCR-RVLP)'we analyzed two ApoA5 genetic variants in 272 pafienLs with cerebral infarction(CI)and 316 control individuals respectively.The levels of serllm lipid profiles were measllred with biochemical methods,and the other clinical characters were obtained by case file investigation.Results The odds ratio(OR)for CI in-1131CC genotype carriers was 2.10(95%CI 1.01-4.37).The distribution of T-T and T-G haplotypes had obvious differences between CI patients and control individuals.The OR for CI in C-G and T-G haplotype carriers were 1.34 and 0.71(95%CI1.02-1.76 and 0.55-0.92)respectively,compared with the others.Fur.thermore,the major haplotypes had significant differences of serum TG(P<0.05).Conclusion TheApoA5-113IT> C polymorphism may be associated with an increased risk of CI in the Chinese population,but the influence of blood lipids Can not be ignored.
