中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2015年
1期
101-104
,共4页
俞海峰%韦凡平%钱国权%李丽芳%张川%程震锋
俞海峰%韋凡平%錢國權%李麗芳%張川%程震鋒
유해봉%위범평%전국권%리려방%장천%정진봉
心力衰竭%卡维地络%单核苷酸多态性%β3肾上腺素能受体
心力衰竭%卡維地絡%單覈苷痠多態性%β3腎上腺素能受體
심력쇠갈%잡유지락%단핵감산다태성%β3신상선소능수체
Heart failure%Carvedilol%Single nucleotide polymorphisms%Beta-3 adrenergic receptor
目的 研究β3肾上腺素能受体(p3 adrenergic receptor,β3-AR)基因T190C多态性与心力衰竭患者基因型的相关性,以及不同基因型患者对卡维地洛治疗心衰的疗效评价.方法 330例心力衰竭患者,在接受基础治疗基础上给予最大耐受剂量卡维地洛治疗5个月,治疗前后测定各项指标,包括心率、血 压、左心房内径、左心室舒张末期内径、左心室收缩末期内径、左心室射血分数、脑利钠肽及6 min行走距离,并作β3-AR基因T190C多态性测定,观察治疗前后各基因型患者指标变化的组间差异.另随机选取300名正常健康人群,进行β3-AR基因T190C多态性测定,比较心力衰竭患者组和健康人群组之间基因型的差异有无统计学意义.结果 β3-AR基因T190C位点的等位基因和基因型频率均符合Hardy-Weinberg平衡.位点的基因型及等位基因频率在心力衰竭组和对照组中差异无统计学意义,β3-AR基因T190C多态含TT基因型心力衰竭患者经过卡维地洛疗后左心室射血分数、脑利钠钛较CC基因型患者显著改善.结论 3-AR基因T190C位点的基因型与心力衰竭无明显相关,β3-AR基因T190C多态含T等位基因心力衰竭患者对卡维地洛疗效好于含C等位基因患者.
目的 研究β3腎上腺素能受體(p3 adrenergic receptor,β3-AR)基因T190C多態性與心力衰竭患者基因型的相關性,以及不同基因型患者對卡維地洛治療心衰的療效評價.方法 330例心力衰竭患者,在接受基礎治療基礎上給予最大耐受劑量卡維地洛治療5箇月,治療前後測定各項指標,包括心率、血 壓、左心房內徑、左心室舒張末期內徑、左心室收縮末期內徑、左心室射血分數、腦利鈉肽及6 min行走距離,併作β3-AR基因T190C多態性測定,觀察治療前後各基因型患者指標變化的組間差異.另隨機選取300名正常健康人群,進行β3-AR基因T190C多態性測定,比較心力衰竭患者組和健康人群組之間基因型的差異有無統計學意義.結果 β3-AR基因T190C位點的等位基因和基因型頻率均符閤Hardy-Weinberg平衡.位點的基因型及等位基因頻率在心力衰竭組和對照組中差異無統計學意義,β3-AR基因T190C多態含TT基因型心力衰竭患者經過卡維地洛療後左心室射血分數、腦利鈉鈦較CC基因型患者顯著改善.結論 3-AR基因T190C位點的基因型與心力衰竭無明顯相關,β3-AR基因T190C多態含T等位基因心力衰竭患者對卡維地洛療效好于含C等位基因患者.
목적 연구β3신상선소능수체(p3 adrenergic receptor,β3-AR)기인T190C다태성여심력쇠갈환자기인형적상관성,이급불동기인형환자대잡유지락치료심쇠적료효평개.방법 330례심력쇠갈환자,재접수기출치료기출상급여최대내수제량잡유지락치료5개월,치료전후측정각항지표,포괄심솔、혈 압、좌심방내경、좌심실서장말기내경、좌심실수축말기내경、좌심실사혈분수、뇌리납태급6 min행주거리,병작β3-AR기인T190C다태성측정,관찰치료전후각기인형환자지표변화적조간차이.령수궤선취300명정상건강인군,진행β3-AR기인T190C다태성측정,비교심력쇠갈환자조화건강인군조지간기인형적차이유무통계학의의.결과 β3-AR기인T190C위점적등위기인화기인형빈솔균부합Hardy-Weinberg평형.위점적기인형급등위기인빈솔재심력쇠갈조화대조조중차이무통계학의의,β3-AR기인T190C다태함TT기인형심력쇠갈환자경과잡유지락료후좌심실사혈분수、뇌리납태교CC기인형환자현저개선.결론 3-AR기인T190C위점적기인형여심력쇠갈무명현상관,β3-AR기인T190C다태함T등위기인심력쇠갈환자대잡유지락료효호우함C등위기인환자.
Objective To assess the association of T190C polymorphism of β3 adrenergic receptor gene (β3 AR)with chronic heart failure (CHF),and to evaluate the effect of this polymorphism on clinical response to β-AR blockade among patients with CHF.Methods Three hundred and thirty patients with stable CHF receiving basic therapy for heart failure were included.Before initiation and 5 months after the maximal tolerated dose of carvedilol was reached,all indices including heart rate (HR),blood pressure (BP),left atrial diameter (LAD),left ventricular end-diastolic diameter (LVEDD),left ventricular end-systolic diameter (LVESD),left ventricular ejection fraction (LVEF),brain natriuretic peptide (BNP) level,6 min walk distance were measured and compared with the indices of those with a T190C genotype.Distribution of the T190C polymorphisms in the control group and CHF group was compared.Results The frequencies of T190C genotypes of the β3-AR gene have fit with the Hardy-Weinberg equilibrium.No significant difference was found between the frequencies of T190C alleles and genotypes between the two groups (P>0.05).Compared with CC-homozygotes,TT-homozygous patients showed substantially greater improvement in LVEF and BNP (all P< 0.01).Conclusion No difference has been detected in the prevalence of the three genotypes between healthy and CHF subjects.The T190C variation of the β3-AR gene was not associated with increased risk for CHF.CHF patients with a T allele have greater response to carvedilol than those carrying a C allele in ethnic Han Chinese.