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
4期
548-553
,共6页
陈芳%张颖%王红%欧阳菊艳%木尼拉·艾尼瓦尔%卡丽比努尔·雅合甫%杨梦智
陳芳%張穎%王紅%歐暘菊豔%木尼拉·艾尼瓦爾%卡麗比努爾·雅閤甫%楊夢智
진방%장영%왕홍%구양국염%목니랍·애니와이%잡려비노이·아합보%양몽지
甲硫氨酸合成酶还原酶%基因多态性%同型半胱氨酸%原发性高血压%民族
甲硫氨痠閤成酶還原酶%基因多態性%同型半胱氨痠%原髮性高血壓%民族
갑류안산합성매환원매%기인다태성%동형반광안산%원발성고혈압%민족
Methione synthase reductase%Genetic polymorphisms%Homocysteine%Essential hypertension%Ethnity
目的 探讨血浆同型半胱氨酸(homocysteine,Hcy)及其代谢关键酶甲硫氨酸合成酶还原酶(methione synthase reductase,MSR)基因多态性位点66A/G、524C/T与新疆维吾尔族、汉族原发性高血压(essential hypertension,EH)的相关性.方法 收集2011年9月至2014年6月在新疆医科大学第一附属医院住院EH患者415例,其中维吾尔族199例,汉族216例;健康对照组共412名,维吾尔族195名,汉族217名.应用聚合酶链-限制性片段长度多态性方法检测MSR 66A/G、524C/T基因多态性,应用酶标免疫吸附检测法检测血浆Hcy水平,分析各生化指标及66A/G、524C/T基因多态性与EH的关联性.结果 (1)维吾尔族、汉族EH组血浆Hcy水平均高于对照组(P＜0.05).MSR 524C/T单核苷酸多态性分布频率在维吾尔族、汉族EH组与对照组比较,差异有统计学意义(维吾尔族:x2=6.559,P=o.038;汉族x2=12.684,P=0.002);MSR 66A/G分布频率差异无统计学意义(P＞0.05).(2)维吾尔族、汉族携带66G、524C者血浆Hcy水平高于携带66A及524T者,且差异有统计学意义(P＜0.05).(3)通过Logistic回归模型分析,年龄(OR=1.924,95％CI:1.177～3.164,P=0.009)、肥胖(OR=2.491,95％CI 1.584～3.920,P＜0.01)、高Hcy(OR=1.609 95％CI:1.016～2.548,P=0.043)是维吾尔族EH患者的独立危险因素;年龄(OR=1.133,95％CI:1.010～81.272,P=0.033)、高Hcy(OR=3.894,95％ CI:2.432～6.237,P＜0.01)、肥胖(OR=1.864,95％CI:1.141～3.046,P=0.013)是汉族EH患者的独立危险因素;未发现MSR 66A/G、524C/T基因多态性与维吾尔族、汉族EH患者之间存在相关性.结论 年龄、高Hcy、肥胖是维吾尔族、汉族高血压患者共同独立危险因素.维吾尔族、汉族MSR 66G基因变异可升高血浆Hcy浓度而524T可降低血浆Hcy浓度,不排除MSR 524C/T基因变异是高血压保护因素,有待于扩大样本量进一步证实,未发现MSR 66A/G、524C/T基因多态性是新疆维吾尔族、汉族高血压患者的独立危险因素.
目的 探討血漿同型半胱氨痠(homocysteine,Hcy)及其代謝關鍵酶甲硫氨痠閤成酶還原酶(methione synthase reductase,MSR)基因多態性位點66A/G、524C/T與新疆維吾爾族、漢族原髮性高血壓(essential hypertension,EH)的相關性.方法 收集2011年9月至2014年6月在新疆醫科大學第一附屬醫院住院EH患者415例,其中維吾爾族199例,漢族216例;健康對照組共412名,維吾爾族195名,漢族217名.應用聚閤酶鏈-限製性片段長度多態性方法檢測MSR 66A/G、524C/T基因多態性,應用酶標免疫吸附檢測法檢測血漿Hcy水平,分析各生化指標及66A/G、524C/T基因多態性與EH的關聯性.結果 (1)維吾爾族、漢族EH組血漿Hcy水平均高于對照組(P＜0.05).MSR 524C/T單覈苷痠多態性分佈頻率在維吾爾族、漢族EH組與對照組比較,差異有統計學意義(維吾爾族:x2=6.559,P=o.038;漢族x2=12.684,P=0.002);MSR 66A/G分佈頻率差異無統計學意義(P＞0.05).(2)維吾爾族、漢族攜帶66G、524C者血漿Hcy水平高于攜帶66A及524T者,且差異有統計學意義(P＜0.05).(3)通過Logistic迴歸模型分析,年齡(OR=1.924,95％CI:1.177～3.164,P=0.009)、肥胖(OR=2.491,95％CI 1.584～3.920,P＜0.01)、高Hcy(OR=1.609 95％CI:1.016～2.548,P=0.043)是維吾爾族EH患者的獨立危險因素;年齡(OR=1.133,95％CI:1.010～81.272,P=0.033)、高Hcy(OR=3.894,95％ CI:2.432～6.237,P＜0.01)、肥胖(OR=1.864,95％CI:1.141～3.046,P=0.013)是漢族EH患者的獨立危險因素;未髮現MSR 66A/G、524C/T基因多態性與維吾爾族、漢族EH患者之間存在相關性.結論 年齡、高Hcy、肥胖是維吾爾族、漢族高血壓患者共同獨立危險因素.維吾爾族、漢族MSR 66G基因變異可升高血漿Hcy濃度而524T可降低血漿Hcy濃度,不排除MSR 524C/T基因變異是高血壓保護因素,有待于擴大樣本量進一步證實,未髮現MSR 66A/G、524C/T基因多態性是新疆維吾爾族、漢族高血壓患者的獨立危險因素.
목적 탐토혈장동형반광안산(homocysteine,Hcy)급기대사관건매갑류안산합성매환원매(methione synthase reductase,MSR)기인다태성위점66A/G、524C/T여신강유오이족、한족원발성고혈압(essential hypertension,EH)적상관성.방법 수집2011년9월지2014년6월재신강의과대학제일부속의원주원EH환자415례,기중유오이족199례,한족216례;건강대조조공412명,유오이족195명,한족217명.응용취합매련-한제성편단장도다태성방법검측MSR 66A/G、524C/T기인다태성,응용매표면역흡부검측법검측혈장Hcy수평,분석각생화지표급66A/G、524C/T기인다태성여EH적관련성.결과 (1)유오이족、한족EH조혈장Hcy수평균고우대조조(P＜0.05).MSR 524C/T단핵감산다태성분포빈솔재유오이족、한족EH조여대조조비교,차이유통계학의의(유오이족:x2=6.559,P=o.038;한족x2=12.684,P=0.002);MSR 66A/G분포빈솔차이무통계학의의(P＞0.05).(2)유오이족、한족휴대66G、524C자혈장Hcy수평고우휴대66A급524T자,차차이유통계학의의(P＜0.05).(3)통과Logistic회귀모형분석,년령(OR=1.924,95％CI:1.177～3.164,P=0.009)、비반(OR=2.491,95％CI 1.584～3.920,P＜0.01)、고Hcy(OR=1.609 95％CI:1.016～2.548,P=0.043)시유오이족EH환자적독립위험인소;년령(OR=1.133,95％CI:1.010～81.272,P=0.033)、고Hcy(OR=3.894,95％ CI:2.432～6.237,P＜0.01)、비반(OR=1.864,95％CI:1.141～3.046,P=0.013)시한족EH환자적독립위험인소;미발현MSR 66A/G、524C/T기인다태성여유오이족、한족EH환자지간존재상관성.결론 년령、고Hcy、비반시유오이족、한족고혈압환자공동독립위험인소.유오이족、한족MSR 66G기인변이가승고혈장Hcy농도이524T가강저혈장Hcy농도,불배제MSR 524C/T기인변이시고혈압보호인소,유대우확대양본량진일보증실,미발현MSR 66A/G、524C/T기인다태성시신강유오이족、한족고혈압환자적독립위험인소.
Objective To assess the association of plasma homocysteine (Hcy) level and 66A/G and 524C/T polymorphisms of methionine synthase reductase (MSR) gene with essential hypertension (EH) in ethnic Uygurs and Hans from Xinjiang.Methods From September 2011 to July 2014,199 Uyghur and 216 Han patients were collected,while 195 healthy Uyghur ethnics and 217 healthy Han ethnics were recruited as the controls.Polymerase chain reaction and restriction fragment length polymorphism (PCR-RELP) was adopted to detect the above polymorphisms.Enzyme immunological assay was applied to measure the levels of plasma Hcy.Results Compared with the control,plasma Hcy levels were significantly higher in EH group in both Uyghur and Han ethnics (P＜0.05).In both ethnic groups,there were also significant differences in MSR 524C/T polymorphism between the patients and controls (Uyghur:x2=6.559,P=0.038;Han:x2 =12.684,P=0.002).No significant difference was found in MSR 66A/G polymorphism between the patients and controls in both ethnic groups (P＞0.05).Plasma Hcy level in those with a 66G/ 524C genotype was statistically higher than that with 66A/524T (P＜0.05).After adjusting confounding factors such as gender and age,Logistic regression analysis indicated that age (OR=1.924,95％CI 1.177-3.164,P=0.009),obesity (OR=2.491,95％CI 1.584-3.920,P＜0.01),hyperhomocysteine (OR=1.609,95％CI 1.016-2.548,P=0.043) were independent risk factors for EH in Uygurs,while age (OR =1.133,95 ％ CI 1.010-81.272,P =0.033),hyperhomocysteine level (OR =3.894,95 ％ CI 2.432-6.237,P＜0.01),and obesity (OR=1.864,95％CI 1.141-3.046,P=0.013) were independent risk factors for EH in Han ethnics.No association was found between the polymorphisms and EH in Uygurs and Hans.Conclusion Age,hyperhomocysteine and obesity were common independent risk factors for EH in both Uygur and Han ethnics from Xinjiang.The MSR 66G genotype can increase the plasma concentration of Hcy,while MSR 524T genotype may reduce it.MSR 524C/T TT genotype may be a protective factor for EH.MSR polymorphisms 66A/G and 524C/T are not independent risk factors for EH in Uygur and Han ethnics from Xinjiang.
