中华心血管病杂志
中華心血管病雜誌
중화심혈관병잡지
Chinese Journal of Cardiology
2012年
12期
1030-1036
,共7页
凯丽比努尔·阿布都热合曼%艾力曼·马合木提%夏玉宁%胡雪梅
凱麗比努爾·阿佈都熱閤曼%艾力曼·馬閤木提%夏玉寧%鬍雪梅
개려비노이·아포도열합만%애력만·마합목제%하옥저%호설매
肺栓塞%亚甲基四氢叶酸还原酶(NADPH2)%多态性,单核苷酸%维吾尔族%同型半胱氨酸
肺栓塞%亞甲基四氫葉痠還原酶(NADPH2)%多態性,單覈苷痠%維吾爾族%同型半胱氨痠
폐전새%아갑기사경협산환원매(NADPH2)%다태성,단핵감산%유오이족%동형반광안산
Pulmonary embolism%Methylenetetrahydrofolate reductase (NADPH2)%Polymorphism,single nucleotide%Uygur nationality%Homocysteine
目的 探讨亚甲基四氢叶酸还原酶(MTHFR)基因C677T位点突变及血浆同型半胱氨酸(Hcy)水平与新疆维吾尔族(维族)静脉血栓栓塞症(VTE)之间的关系.方法 收集2008年1月至2011年12月在新疆医科大学第一附属医院住院的VTE患者222例,其中维族74例,汉族148例；健康对照组维族86例,汉族134例.采用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)技术检测MTHFR基因C677T多态性,并应用酶循环法检测血浆Hcy水平,分析Hcy及MTHFR基因C677T多态性与VTE的关联性.结果 MTHFR基因C677T的3种基因型在维族VTE患者和对照组分布频率分别为:TT型[28.38％(35/86)比12.79％ (11/86)]、CT型[41.89％(31/74)比52.33％(45/86)]和CC型[29.73％(22/74)比34.88％(30/86)]；汉族VTE患者和对照组基因分布频率分别为:TT型[27.03％(40/148)比14.92％ (20/134)]、CT型[44.59％(66/148)比52.99％ (71/134)]和CC型[28.38％(42/148)比32.09％ (43/134)],MTHFR基因单核苷酸多态性(SNP)TT基因型分布频率在同民族病例与对照组基因型分布比较,差异有统计学意义(维族:X2=6.069,P=0.048;汉族x2 =6.181,P=0.045);然而,在两民族对照及VTE组间比较,差异无统计学意义(P均＞0.05).维、汉两民族MTHFR基因TT型者血浆Hcy水平高于CT型和CC型,且差异有统计学意义(P均＜0.05).通过非条件logistic回归模型校正了年龄、性别、吸烟史、高脂血症、高血压、糖尿病及MTHFR基因型后,肥胖(OR=4.660,95％ CI 1.417～15.324,P=0.011)和Hcy水平(OR=1.025,95％ CI 1.003 ～1.046,P=0.024)是维族VTE患者的独立危险因素,而吸烟(OR=2.867,95％ CI口 1.062～6.586,P=0.024)和血浆Hcy水平(OR=1.020,95％ CI 1.006～1.034,P=0.004)是汉族VTE患者的独立危险因素.结论 肥胖和吸烟分别是维族和汉族VTE患者的独立危险因素.血浆高Hcy水平是维、汉两民族VTE患者的共同独立危险因素.MTHFR基因C677T多态性可能与VTE的发生相关.
目的 探討亞甲基四氫葉痠還原酶(MTHFR)基因C677T位點突變及血漿同型半胱氨痠(Hcy)水平與新疆維吾爾族(維族)靜脈血栓栓塞癥(VTE)之間的關繫.方法 收集2008年1月至2011年12月在新疆醫科大學第一附屬醫院住院的VTE患者222例,其中維族74例,漢族148例；健康對照組維族86例,漢族134例.採用聚閤酶鏈式反應-限製性片段長度多態性(PCR-RFLP)技術檢測MTHFR基因C677T多態性,併應用酶循環法檢測血漿Hcy水平,分析Hcy及MTHFR基因C677T多態性與VTE的關聯性.結果 MTHFR基因C677T的3種基因型在維族VTE患者和對照組分佈頻率分彆為:TT型[28.38％(35/86)比12.79％ (11/86)]、CT型[41.89％(31/74)比52.33％(45/86)]和CC型[29.73％(22/74)比34.88％(30/86)]；漢族VTE患者和對照組基因分佈頻率分彆為:TT型[27.03％(40/148)比14.92％ (20/134)]、CT型[44.59％(66/148)比52.99％ (71/134)]和CC型[28.38％(42/148)比32.09％ (43/134)],MTHFR基因單覈苷痠多態性(SNP)TT基因型分佈頻率在同民族病例與對照組基因型分佈比較,差異有統計學意義(維族:X2=6.069,P=0.048;漢族x2 =6.181,P=0.045);然而,在兩民族對照及VTE組間比較,差異無統計學意義(P均＞0.05).維、漢兩民族MTHFR基因TT型者血漿Hcy水平高于CT型和CC型,且差異有統計學意義(P均＜0.05).通過非條件logistic迴歸模型校正瞭年齡、性彆、吸煙史、高脂血癥、高血壓、糖尿病及MTHFR基因型後,肥胖(OR=4.660,95％ CI 1.417～15.324,P=0.011)和Hcy水平(OR=1.025,95％ CI 1.003 ～1.046,P=0.024)是維族VTE患者的獨立危險因素,而吸煙(OR=2.867,95％ CI口 1.062～6.586,P=0.024)和血漿Hcy水平(OR=1.020,95％ CI 1.006～1.034,P=0.004)是漢族VTE患者的獨立危險因素.結論 肥胖和吸煙分彆是維族和漢族VTE患者的獨立危險因素.血漿高Hcy水平是維、漢兩民族VTE患者的共同獨立危險因素.MTHFR基因C677T多態性可能與VTE的髮生相關.
목적 탐토아갑기사경협산환원매(MTHFR)기인C677T위점돌변급혈장동형반광안산(Hcy)수평여신강유오이족(유족)정맥혈전전새증(VTE)지간적관계.방법 수집2008년1월지2011년12월재신강의과대학제일부속의원주원적VTE환자222례,기중유족74례,한족148례；건강대조조유족86례,한족134례.채용취합매련식반응-한제성편단장도다태성(PCR-RFLP)기술검측MTHFR기인C677T다태성,병응용매순배법검측혈장Hcy수평,분석Hcy급MTHFR기인C677T다태성여VTE적관련성.결과 MTHFR기인C677T적3충기인형재유족VTE환자화대조조분포빈솔분별위:TT형[28.38％(35/86)비12.79％ (11/86)]、CT형[41.89％(31/74)비52.33％(45/86)]화CC형[29.73％(22/74)비34.88％(30/86)]；한족VTE환자화대조조기인분포빈솔분별위:TT형[27.03％(40/148)비14.92％ (20/134)]、CT형[44.59％(66/148)비52.99％ (71/134)]화CC형[28.38％(42/148)비32.09％ (43/134)],MTHFR기인단핵감산다태성(SNP)TT기인형분포빈솔재동민족병례여대조조기인형분포비교,차이유통계학의의(유족:X2=6.069,P=0.048;한족x2 =6.181,P=0.045);연이,재량민족대조급VTE조간비교,차이무통계학의의(P균＞0.05).유、한량민족MTHFR기인TT형자혈장Hcy수평고우CT형화CC형,차차이유통계학의의(P균＜0.05).통과비조건logistic회귀모형교정료년령、성별、흡연사、고지혈증、고혈압、당뇨병급MTHFR기인형후,비반(OR=4.660,95％ CI 1.417～15.324,P=0.011)화Hcy수평(OR=1.025,95％ CI 1.003 ～1.046,P=0.024)시유족VTE환자적독립위험인소,이흡연(OR=2.867,95％ CI구 1.062～6.586,P=0.024)화혈장Hcy수평(OR=1.020,95％ CI 1.006～1.034,P=0.004)시한족VTE환자적독립위험인소.결론 비반화흡연분별시유족화한족VTE환자적독립위험인소.혈장고Hcy수평시유、한량민족VTE환자적공동독립위험인소.MTHFR기인C677T다태성가능여VTE적발생상관.
Objective To investigate methylenetetrahydrofolate reductase (MTHFR) gene C677T mutation and plasma homocysteine (Hcy) levels in Uygur patients with venous thrormboembolism (VTE) in Xinjiang.Methods A total of 222 VTE patients including 74 Uygur and 148 Han ethnic patients were examined,and 86 Uygur ethnic and Han 134 ethnic healthy people were included as controls.Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was applied to detect MTHFR gene C677T polymorphism and plasma Hcy levels were measured by fluorescence polarization immunoassay.Results The MTHFR gene C677T genotypes distribution in Uygur VTE patients and control groups were:TT [28.38％ (35/86) vs.12.79％ (11/86),P ＜0.05],CT [41.89％ (31/74) vs.52.33 ％ (45/86),P ＞ 0.05] and CC [29.73％ (22/74) vs.34.88％ (30/86),P ＞ 0.05],respectively;and in Han VTE patients and control groups were:TT[27.03％ (40/148) vs.14.92％ (20/134).P ＜0.05],CT [44.59％ (66/148) vs.52.99％ (71/134),P＞0.05] and CC [28.38％ (42/148) vs.32.09％ (43/134),P ＞ 0.05],respectively.SNP genotyping distribution frequency in Uygur and Han ethnic population was similar between controls and between VTE patients (P ＞ 0.05).Plasma levels of Hcy in MTHFR gene TT genotype were statistically higher than CT and CC genotype (P ＜ 0.05).After adjusting for age,gender,smoking history,hyperlipidemia,hypertension,diabetes,and MTHFR genotype,multifactor logistic regression analysis showed that plasma Hcy level (OR =1.025,95％ CI 1.003-1.046,P =0.024) and obesity (OR =4.660,95％ CI 1.417-15.324,P =0.011) were independent risk factors for Uygur ethnic patients with VTE while plasma Hcy level (OR =1.020,95％ CI 1.006-1.034,P =0.004) and smoking (OR =2.867,95 ％ CI 1.062-6.586,P =0.024) were independent risk factors for Han ethnic patients with VTE.Conclusion MTHFR C677T polymorphism (TT genotype carrier) and increased plasma levels of Hcy are risk factors for Uygur and Han ethnic patients with VTE in Xinjiang.
