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
6期
686-689
,共4页
黄浩%潘灵爱%张立%陈玉成%曾智
黃浩%潘靈愛%張立%陳玉成%曾智
황호%반령애%장립%진옥성%증지
早发冠状动脉粥样硬化性心脏病%单核苷酸多态性%聚合酶链反应%低密度脂蛋白胆固醇
早髮冠狀動脈粥樣硬化性心髒病%單覈苷痠多態性%聚閤酶鏈反應%低密度脂蛋白膽固醇
조발관상동맥죽양경화성심장병%단핵감산다태성%취합매련반응%저밀도지단백담고순
premature coronary heart disease%single nucleotide polymorphism%polymerase chain reaction%low density lipoprotein-cholesterol
目的 探讨中国汉族人群染色体1p13.3 rs599839基因多态性与早发冠状动脉粥样硬化性心脏病(简称早发冠心病)的相关性.方法 用聚合酶链反应-限制性片段长度多态性技术分析303例经冠状动脉冠脉造影确诊的早发冠心病患者rs599839基因多态性,以同期冠脉造影阴性、排除冠心病诊断的312名受试者为财照组,比较两组间rs599839基因多态性频率分布差异.结果 早发冠心病组与对照组中均检出AA、AG基因型,GG基因型末检出.G等佗基因频率在早发冠心病组和对照组中分别为5.0%、9.1%,差异有统计学意义(P=0.004),使用Logistic回归分析排除吸烟、高血压、糖尿病等因素的影响后,两组G等位基因频率差异仍有统计学意义(P<0.05).两组中G等位幕因携带者(AG型)低密度脂蛋白胆固醇(low density lipoprotein-cholesterol,LDL-C)水平均低于AA纯合子.结论 中国汉族人群染色体1p13.3 rs599839基因多态性可能与早发冠心病发病相关;rs599839基因多态性可能与血清LDL-C浓度差异相关;rs599839基因多态性与冠脉狭窄程度无关.
目的 探討中國漢族人群染色體1p13.3 rs599839基因多態性與早髮冠狀動脈粥樣硬化性心髒病(簡稱早髮冠心病)的相關性.方法 用聚閤酶鏈反應-限製性片段長度多態性技術分析303例經冠狀動脈冠脈造影確診的早髮冠心病患者rs599839基因多態性,以同期冠脈造影陰性、排除冠心病診斷的312名受試者為財照組,比較兩組間rs599839基因多態性頻率分佈差異.結果 早髮冠心病組與對照組中均檢齣AA、AG基因型,GG基因型末檢齣.G等佗基因頻率在早髮冠心病組和對照組中分彆為5.0%、9.1%,差異有統計學意義(P=0.004),使用Logistic迴歸分析排除吸煙、高血壓、糖尿病等因素的影響後,兩組G等位基因頻率差異仍有統計學意義(P<0.05).兩組中G等位幕因攜帶者(AG型)低密度脂蛋白膽固醇(low density lipoprotein-cholesterol,LDL-C)水平均低于AA純閤子.結論 中國漢族人群染色體1p13.3 rs599839基因多態性可能與早髮冠心病髮病相關;rs599839基因多態性可能與血清LDL-C濃度差異相關;rs599839基因多態性與冠脈狹窄程度無關.
목적 탐토중국한족인군염색체1p13.3 rs599839기인다태성여조발관상동맥죽양경화성심장병(간칭조발관심병)적상관성.방법 용취합매련반응-한제성편단장도다태성기술분석303례경관상동맥관맥조영학진적조발관심병환자rs599839기인다태성,이동기관맥조영음성、배제관심병진단적312명수시자위재조조,비교량조간rs599839기인다태성빈솔분포차이.결과 조발관심병조여대조조중균검출AA、AG기인형,GG기인형말검출.G등타기인빈솔재조발관심병조화대조조중분별위5.0%、9.1%,차이유통계학의의(P=0.004),사용Logistic회귀분석배제흡연、고혈압、당뇨병등인소적영향후,량조G등위기인빈솔차이잉유통계학의의(P<0.05).량조중G등위막인휴대자(AG형)저밀도지단백담고순(low density lipoprotein-cholesterol,LDL-C)수평균저우AA순합자.결론 중국한족인군염색체1p13.3 rs599839기인다태성가능여조발관심병발병상관;rs599839기인다태성가능여혈청LDL-C농도차이상관;rs599839기인다태성여관맥협착정도무관.
Objective To investigate the association of single mucleotide polymorphism (SNP) rs599839 on chromosome 1p13.3 with premature coronary heart disease.Methods A case-control association study of 303 unrelated premature coronary heart disease patients and 312 normal controls from a Chinese Han population was performed.Genotype was determined by polymerase chain reaction-restriction fragnent length polymorphism for SNP rs599839 on Chromosome 1 p i 3.3.Result The frequencies of the G allele were 5.0% and 9.1% in the premature coronary heart disease group and control group respectively (P=0.004).The presence of the G allele was associated with significantly lower concentration of the low density lipoprotein-cholesterol (LDL-C) in both groups.Conclusion The present findings suggest that the genetic polymorphism in ts699839 may be associated with the development of premature coronary heart disease in Chinese Han population,and the polymorphism may have some influence on serum LDL-C level in this population.