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Interactions of the apolipoprotein A5 gene polymorphisms and alcohol consumption on serum lipid levels 被引量:3
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作者 YIN Rui-xing,LI Yi-yang,LIU Wan-ying,ZHANG Lin,WU Jin-zhen (Department of Cardiology,Institute of Cardiovascular Diseases, The First Affiliated Hospital,Guangxi Medical University, Nanning 530021,China) 《岭南心血管病杂志》 2011年第S1期51-52,共2页
Objectives Apolipoprotein(Apo) A5 gene poly-morphisms and alcohol consumption have been associated with increased serum triglyceride(TG) levels,but little is known about their interactions on serum lipid levels.The pr... Objectives Apolipoprotein(Apo) A5 gene poly-morphisms and alcohol consumption have been associated with increased serum triglyceride(TG) levels,but little is known about their interactions on serum lipid levels.The present study was undertaken polymorphismsand alcohol consumption on serum lipid levels.Methods A total of 516 unrelated nondrinkers and 514 drinkers aged 15 -89 were randomly selected from our previous stratified randomized cluster samples.Genotyping of the ApoA5was performed by polymerase chain reaction and restriction fragment length polymorphism,and then confirmed by direct sequencing.Interactions of the ApoA5alcohol consumption were assessed by using a cross-product term between genotypes and the aforementioned factor.Results The levels of total cholesterol (TC),TG,high-density lipoprotein cholesterol(HDL-C), ApoA1 and ApoB were higher in drinkers than in nondrinkers (P【0.05-0.001).The genotypic and allelic frequencies of the three single nucleotide polymorphisms(SNPs) were not different between the two groups.The levels of TG in non-drinkers, and TC,TG,low-density lipoprotein cholesterol (LDL-C)and ApoB in drinkers were different among the three -1131T】C genotypes(P【0.05-0.001).The -1131C allele carriers had higher serum TC,TG,LDL-C and ApoB levels than the allele noncarriers.The levels of TG,HDL-C and ApoB in nondrinkers,and TG and HDL-C in drinkers were different between the two c.553G】T genotypes(P【0.05-0.01).The C.553T allele carriers had higher serum TG and ApoB levels,and lower HDL-C levels than the allele noncarriers.Serum lipid levels in nondrinkers were not different among the three c.457G】A genotypes(P【0.05 for all), but the levels of HDL-C,LDL-C,ApoA1 and ApoB in drinkers were different between the GG and GA/AA geno-types (P【0.05-0.001).The C.457A allele carriers had lower serum HDL-C,LDL-C,ApoAl and ApoB levels than the allele noncarriers.We also observed four haplotypes:G-G-T, G-G-C,G-A-T,and T-G-C with frequencies ranging from 0.06 to 0.87,representing 100%of all haplotypes in the both populations.The ApoA5 haplotypes were significantly(P【0.05) associated at the global level with TC,TG,HDL-C, LDL-C,Apo1,and ApoB,even after correction for multiple testing with permutation test.In particular,carriers of haplo-type G-G-C had significantly higher TC,TG,LDL-C,ApoB than noncarriers,whereas carriers of haplotype C-A-T had significantly lower TC,LDL-C,ApoAl and ApoB,and higher HDL-C than noncarriers.Serum TC levels in nondrinkers were correlated with -1131T】C genotype and allele(P【0.05 for each),whereas serum TC,TG and LDL-C levels in drinkers were associated with -1131 T】C and C.553G】T genotypes,or c.457G】A alleles(P【0.05-0.001).Serum lipid parameters were also correlated with several environmental factors in the both groups.Conclusions The differences in serum lipid profiles between the drinkers and nondrinkers might partly result from different interactions of ApoA5 gene polymor phisms and alcohol consumption.genotypes and -1131T】C, c.553G】T and c.457G】A to detect the interactions of the ApoA5 展开更多
关键词 APOB Interactions of the apolipoprotein A5 gene polymorphisms and alcohol consumption on serum lipid levels APOA gene HDL LDL
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Relationship between the low density lipoprotein receptor gene polymorphism and serum lipid levels in the Guangxi Bai Ku Yao population
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作者 LONG Xing-jiang,YIN Rui-xing,LI Ke-la,LIU Wan-ying, ZHANG Lin,CAO Xiao-li,MIAO Lin,WU Dong-feng,ZENG Huan-yu,HU Xi-jiang (Department of Cardiology,Institute of Cardiovascular Diseases, The First Affiliated Hospital,Guangxi Medical University, Nanning 530021,China) 《岭南心血管病杂志》 2011年第S1期154-155,共2页
Objectives Bai Ku Yao(White-trousers Yaos)is a special branch of Yao minority in China.They are now living in both Lihu and Baxu villages,Nandan County, Guangxi,China.The population size is about 30,000.The special cu... Objectives Bai Ku Yao(White-trousers Yaos)is a special branch of Yao minority in China.They are now living in both Lihu and Baxu villages,Nandan County, Guangxi,China.The population size is about 30,000.The special customs and culture of Bai Ku Yao,including their special clothing,intra-ethnic marriages and alcohol intake are still completely conserved to the present day.In previous epidemiologic studies,we found that the serum lipid levels and the prevalence of hyperlipidaemia were lower in Bai Ku Yao than in Han Chinese from the same region.This ethnic difference in serum lipid profiles is still not well known.We hypothesized that there may be significant differences in some genetic polymorphismsssociation of low density lipoprotein receptor (LDL-R) genepolymorphism and several environmental factors with serum lipid levels in the Guangxi Bai Ku Yao and Han populations.Methods A total of 1024 subjects of Bai Ku Yao and 792 participants of Han Chinese were stud- ied by a stratified randomized cluster sampling.Epidemiological survey was carried out using internationally standardized methods.Information on demographics,socioeconomic status, and lifestyle factors was collected with standardized questionnaires. The height,weight,waist circumference,blood pressure, and serum total cholesterol(TC),triglyceride(TG), high-density lipoprotein cholesterol(HDL-C),low-density lipoprotein cholesterol(LDL-C),apolipoprotein(Apo) A1, and ApoB were measured.Body massindex(BMI,kg/m2) was calculated.Genotyping of the LDL-RAvaⅡwas performed by polymerse chain reaction and restriction fragment length polymorphism combined with gel electrophoresis,and then confirmed by direct sequencing.Results(l)The height,weight,serum TC,HDL-C,LDL-C,ApoAl levels and the ratio of ApoAl to ApoB were lower in Bai Ku Yao than in Han Chinese(P【0.01 for all),whereas the percentage of subjects who consumed alcohol or smoked cigarettes was higher in Bai Ku Yao than in Han Chinese(P【0.01 for each).(2) The frequency of A+ allele in Bai Ku Yao was 34.5%,and the frequencies of A-A-,A-A+ and A+A + genotypes were 42.6%,45.9%and 11.5%;respectively. The frequency of A+ allele in Han Chinese was 19.3%(P【0.001),and the frequencies of A-A-,A-A + and A+A+ genotypes were 64.9%,31.6%and 3.5%(P【0.001);respectively. The frequencies of A-A-,A-A+ and A+A+ genotypes in Bai Ku Yao were significant difference between males and females,between normal TC and high TC subgroup, and between normal LDL-C and high LDL-C subgroup (P【0.05 for all),whereas the frequencies of A- and A+ ? alleles in Han Chinese were significant difference between males and females(P【0.05).(3) Serum LDL-C levels in Bai Ku Yao were significant difference among the A-A-, A-A+ and A+A+ genotypes(P【0.05),the A+ carriers had higher serum LDL-C levels.Serum HDL-C levels in Han Chiese were significant difference among the A-A-,A-A + and A+A+ genotypes(P【0.01),the A+ carriers had higher serum HDL-C levels.(4) After adjusting other factors,the prevalence of LDL-C abnormality was still higher in Han Chiese than in Bai Ku Yao.The prevalence of TC abnormality in Han Chinese was almost twice high as in Bai Ku Yao. The age and diet were common risk factor for TC abnormality. No effect of AvaⅡgenotype or alcohol consumption on the TC abnormality was found,but the combination of geno-type and alcohol consumption can increase the prevalence of TC abnormality[Exp(B) =(1.154)].Age was negatively cor- related with TG level.Conclusions Serum TC and LDL-C levels were lower in Bai Ku Yao than in Han Chinese.There were significant differences in the AvaⅡallele and genotype frequencies between the he A+ carriers in Bai Ku Yao had higher serum LDL-C levels,whereas the A+ carriers in Han had higher serum HDL-C levels.Interactions between alcohol consumption or cigarette smoking and the LDL-R AvaⅡgenotype were also observed.The differences in the serum lipid profiles between the two ethnic groups might partly result from different genotypic frequency of LDL-R AvaⅡpolymorphism or differentgene-enviromental interactions.Bai Ku Yao and Han population,the frequency of A + allele was higher in Bai Ku Yao than in Han.T between the two ethnic groups.Therefore,the aim of the present study was to detect the 展开更多
关键词 LDL Relationship between the low density lipoprotein receptor gene polymorphism and serum lipid levels in the Guangxi Bai Ku Yao population gene
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Polymorphisms in CYP2R1 Gene Associated with Serum Vitamin D Levels and Status in a Chinese Rural Population 被引量:1
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作者 WANG Yan HAN Han +10 位作者 WANG Jun SHEN Fang YU Fei WANG Ling YU Song Cheng ZHANG Dong Dong SUN Hua Lei XUE Yuan BA Yue WANG Chong Jian LI Wen Jie 《Biomedical and Environmental Sciences》 SCIE CAS CSCD 2019年第7期550-553,共4页
Vitamin D, a fat-soluble vitamin and endocrine horm one, and it impacts various bone and extra-bone health, such as osteoporosis, diabetes, and cancer. The main circulating form of vitamin D is 25-hydroxyvitamin D [25... Vitamin D, a fat-soluble vitamin and endocrine horm one, and it impacts various bone and extra-bone health, such as osteoporosis, diabetes, and cancer. The main circulating form of vitamin D is 25-hydroxyvitamin D [25(OH)D] and it is a useful clinical biomarker of vitamin D status. The Institute of Medicine (IOM) defines as vitamin D deficiency (VDD) when serum 25(OH)D concentration is less than 20 ng/mL⑴.Worldwide, VDD is recognized as a severe public health problem. In 2007, Holick estimated that globally over one billion people suffered from VDD or vitamin D insufficiency (VDI). In China, it has bee n reported that the prevale nee of VDD ranged from 38.8% to 91.2% in different regions. 展开更多
关键词 polymorphismS CYP2R1 gene serum VITAMIN D CHINESE RURAL Population
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The proprotein convertase subtilisin/kexin type 9 geneE670G polymorphism and serum lipid levels in the Guangxi Bai Ku Yao and Han populations 被引量:9
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作者 Lynn Htet Aung,YIN Rui-xing,MIAO Lin,HU Xi-jiang, YAN Ting-ting,CAO Xiao-li,WU Dong-feng,LI Qing,PAN Shang-ling,WU Jin-zhen (Department of Cardiology,Institute of Cardiovascular Diseases, The First Affiliated Hospital,Guangxi Medical University, Nanning 530021,China) 《岭南心血管病杂志》 2011年第S1期162-162,共1页
Background The association of E670G polymorphism in the proprotein convertase subtilisin/kexin type 9 (PCSK9) gene and serum lipid profiles is inconsistent in dif- ferent ethnic groups.Bai Ku Yao is a special subgroup... Background The association of E670G polymorphism in the proprotein convertase subtilisin/kexin type 9 (PCSK9) gene and serum lipid profiles is inconsistent in dif- ferent ethnic groups.Bai Ku Yao is a special subgroup of the Yao minority in China.The present study was undertaken association of PCSK9 E670G polymorphism and several environmental factors with serum lipid levels in the Guangxi Bai Ku Yao and Han populations.Methods A total of 649 subjects of Bai Ku Yao and 646 participants of Han Chinese were randomly selected from our previous stratified randomized cluster samples.Genotyping of the PCSK9 E670G polymorphism was performed by polymerase chain reaction and restriction fragment length polymorphism combined with gel electrophoresis,and then confirmed by direct sequencing. Results The levels of serum total cholesterol(TC),high-density lipoprotein cholesterol(HDL-C),low-density lipoprotein cholesterol(LDL-C) and apolipoprotein(Apo) AI were lower in Bai Ku Yao than in Han(P【0.01 for all).The frequency of A and G alleles was 98.00%and 2.00%in Bai Ku Yao,and 95.20%and 4.80%in Han(P【0.01);respectively. The frequency of AA,AG and GG genotypes was 95.99%,4.01%and 0%in Bai Ku Yao,and 91.02%, 8.36%and 0.62%in Han(P【0.01);respectively.There were also significant differences in the genotypic and allelic frequencies between n and the ratio of ApoAI to ApoB in Han Chinese but not in Bai Ku Yao were different between the AA and AG/GG genotypes(P【0.05 for all).The G allele carriers had higher serum HDL-C and higher ApoAI to ApoB ratio than the G allele noncarriers.When serum lipid parameters in Han were analyzed according to sex,the G allele carriers had higher serum HDL and ApoAI levels in males (P【0.05),and lower ApoB level and higher ApoAI to ApoB ratio in females(P【0.05 for all).Multiple linear regression analysis showed that serum HDL-C levels were correlated with genotypes in both ethnic groups(P【0.05 each).Serum lipid parameters were also correlated with sex,age,body massindex,alcohol consumption,cigarette smoking,and blood pressure in both ethnic groups(P【0.05-0.001).Conclusions These results suggest that the PCSK9 E670G polymorphism is mainly associated with some serum lipid parameters in the Han population,both gender show different relations to different serum lipid parameters.The G allele carriers might have higher serum lipid profiles than the G allele noncarriers. ormal LDL-C(≤3.20 mmol/L) and high LDL-C subgroups (】 3.20 mmol/L,P【0.01;respectively) in Bai Ku Yao, and between normal ApoB(≤1.14 g/L) and high ApoB subgroups(】 1.14 g/L,P 【 0.01;respectively) in Han. 展开更多
关键词 ApoB The proprotein convertase subtilisin/kexin type 9 geneE670G polymorphism and serum lipid levels in the Guangxi Bai Ku Yao and Han populations TYPE
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Ischemic stroke susceptibility gene in a Northern Han Chinese population 被引量:4
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作者 Haiping Wang Shujuan Shi +4 位作者 Wenjing Yan Yan Song Jingjing Zhan Chen Zhang Haiji Wang 《Neural Regeneration Research》 SCIE CAS CSCD 2013年第20期1881-1891,共11页
Interleukin-18 gene promoter polymorphisms are potential risk factors for ischemic cerebrovascular disease, and the –607C allele may increase ischemic stroke risk in the Han Chinese population. In the present study, ... Interleukin-18 gene promoter polymorphisms are potential risk factors for ischemic cerebrovascular disease, and the –607C allele may increase ischemic stroke risk in the Han Chinese population. In the present study, we recruited 291 patients with ischemic cerebrovascular disease from the Affiliated Hospital of Qingdao University Medical College, China, and 226 healthy controls. Both patients and controls were from the Han population in northern China. Immunoresonance scattering assays detected increased serum amyloid A protein, C-reactive protein, and interleukin-18 levels in ischemic cerebrovascular disease patients compared with healthy controls. Analysis of the –607C/A (rs1946518) polymorphism in the interleukin-18 gene promoter showed ischemic cerebrovascular disease patients exhibited increased frequencies of the CC genotype and C alleles than healthy controls. Genotype and allele frequencies of the interleukin-18 –137G/C (rs187238) polymorphism and the –13T/C (rs11024595) polymorphism in the 5'-flanking region of serum amyloid A, showed no significant difference between the two groups. Multivariate logistic regression analysis on the interleukin-18 promoter A/C genetic locus, for correction of age, gender, history of smoking, hypertension, diabetes mellitus, hypercholesteremia, and an ischemic stroke family history, showed ischemic cerebrovascular disease risk in individuals without the A allele (C homozygotes) was 2.2-fold greater than in A allele carriers. Overall, our findings suggest that the –13T/C (rs11024595) polymorphism in the 5′-flanking region of serum amyloid A has no correlation with ischemic cerebrovascular disease, but the C allele of the –607C/A (rs1946518) polymorphism in the interleukin-18 promoter is a high-risk factor for ischemic cerebrovascular disease in the Han population of northern China. In addition, the A allele is likely a protective gene for ischemic cerebrovascular disease. 展开更多
关键词 neural regeneration brain injury INTERLEUKIN-18 ischemic cerebrovascular disease ATHEROSCLEROSIS gene polymorphism C-reactive protein serum amyloid A protein inflammation NEUROREgeneRATION
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kiss-1基因多态性、血清瘦素对多囊卵巢综合征易感性交互作用影响
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作者 岳莎莎 赵莉 +2 位作者 袁兴琼 朱力 吴婵 《蚌埠医学院学报》 2024年第12期1624-1627,1631,共5页
目的:探讨kiss-1基因多态性、血清瘦素对多囊卵巢综合征(PCOS)易感性的交互作用影响。方法:选取180例PCOS病人(PCOS组)与180例非PCOS健康女性(对照组),比较2组人口学与基线资料、kiss-1基因多态性、血清瘦素水平,比较不同kiss-1基因多... 目的:探讨kiss-1基因多态性、血清瘦素对多囊卵巢综合征(PCOS)易感性的交互作用影响。方法:选取180例PCOS病人(PCOS组)与180例非PCOS健康女性(对照组),比较2组人口学与基线资料、kiss-1基因多态性、血清瘦素水平,比较不同kiss-1基因多态性病人血清瘦素水平,分析PCOS易感性的相关影响因素,并分析kiss-1基因多态性、血清瘦素对PCOS易感性的交互作用及其作用类型。结果:PCOS组体质量指数、PCOS家族史与对照组比较差异有统计学意义(P<0.05);PCOS组血清瘦素高于对照组,差异有统计学意义(P<0.05);校正了体质量指数、PCOS家族史后,rs4889位点CC基因型、血清瘦素均与PCOS易感性相关(P<0.05);kiss-1基因rs4889位点CC基因型病人血清瘦素大于GG、GC基因型(P<0.05);单独血清瘦素所致PCOS的OR值为6.115,单独rs4889 CC基因型所致PCOS的OR值为8.575,血清瘦素、rs4889 CC基因型共存所致的PCOS的OR值为15.987,血清瘦素、rs4889 CC基因型对PCOS易感性交互作用为次相乘模型,且血清瘦素对rs4889 CC基因型所致PCOS的效用具有正向交互作用。结论:kiss-1基因rs4889位点多态性与血清瘦素升高均可增加PCOS易感性,且两者对PCOS易感性存在交互作用,该交互作用符合次相乘模型,表现为正向交互作用。 展开更多
关键词 多囊卵巢综合征 kiss-1基因多态性 血清瘦素 易感性 交互作用
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MTHFR基因多态性与血清叶酸水平对妊娠期糖尿病患者及其妊娠结局的影响
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作者 吴毳 《中国药业》 CAS 2024年第S01期137-139,共3页
目的探讨MTHFR基因多态性与血清叶酸水平对妊娠期糖尿病(GDM)孕产妇及其妊娠结局的影响。方法选取医院2022年6月至2023年6月收治的GDM孕产妇100例,作为观察组;另选取同期健康正常妊娠孕产妇100例,作为对照组。两组对象均在医院完成分娩... 目的探讨MTHFR基因多态性与血清叶酸水平对妊娠期糖尿病(GDM)孕产妇及其妊娠结局的影响。方法选取医院2022年6月至2023年6月收治的GDM孕产妇100例,作为观察组;另选取同期健康正常妊娠孕产妇100例,作为对照组。两组对象均在医院完成分娩,能配合统计妊娠结局。结果两组对象平均年龄及A1298C位点的基因型和等位基因比较,差异无统计学意义(P>0.05),而体质量指数、空腹血糖、C667T位点的基因型及等位基因型、不良妊娠结局发生率比较,差异有统计学意义(P<0.05)。两组MTHFR基因C667T位点不同基因型频率和血清叶酸水平比较,差异有统计学意义(P<0.05)。观察组发生与未发生不良妊娠结局患者的C667T位点基因型频率及血清叶酸水平比较,差异有统计学意义(P<0.05)。结论GDM的MTHFR基因多态性与血清叶酸水平及妊娠结局相关,临床需高度重视,积极寻找有效干预方法。 展开更多
关键词 妊娠期糖尿病 MTHFR基因 基因多态性 血清叶酸水平 妊娠结局 等位基因 基因型
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汉族儿童LDL受体AvaⅡ位点多态性分布与血脂谱水平的关系 被引量:15
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作者 冯宁平 朱文丽 +2 位作者 王莹 马军 叶广俊 《中国公共卫生》 CAS CSCD 北大核心 2002年第1期29-31,共3页
目的 了解汉族儿童LDL受体AvaⅡ位点多态性分布及其与血脂谱水平的关系。方法 对 30 8名汉族学龄儿童进行了LDL受体AvaⅡ位点多态性及血脂谱水平的检测。结果  30 8名儿童杂和突变型检出率为 35 7% ,等位基因 (+)频率为 17 9% ,与... 目的 了解汉族儿童LDL受体AvaⅡ位点多态性分布及其与血脂谱水平的关系。方法 对 30 8名汉族学龄儿童进行了LDL受体AvaⅡ位点多态性及血脂谱水平的检测。结果  30 8名儿童杂和突变型检出率为 35 7% ,等位基因 (+)频率为 17 9% ,与国内其它报道相近 (14 7% ) ,但远低于白种人群频率 4 3% ;不同基因型男、女儿童血脂谱水平差异无显著性 ;高胆固醇组与正常组儿童LDL受体AvaⅡ位点基因型分布差异无显著性。分析其原因可能有 :(1)遗传变异是多位点、多种类的 ,且在不同种族、不同人群中表现不同。 (2 )单个基因的作用“微效”。 (3)具有遗传易感性的儿童由于环境因素作用时间尚短 ,不一定能表现出血脂谱水平的显著改变。 (4)混杂因素影响。结论 尚不能证实LDL受体AvaⅡ位点多态性与儿童血脂谱水平变异有关。 展开更多
关键词 儿童 LDL受体AvaⅡ位点 基因多态性 血脂谱 高脂血症 汉族 心血管疾病
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血清Hcy、MTHFR基因多态性与血液病患者并发冠心病的相关性 被引量:12
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作者 张灵 袁小飞 +4 位作者 李琦 范凌 陈哲 张斌 高炳华 《中国实验血液学杂志》 CAS CSCD 北大核心 2022年第1期305-309,共5页
目的:观察血液病并发冠状动脉粥样硬化性心脏病(简称冠心病)患者血清同型半胱氨酸(Hcy)表达水平及亚甲基四氢叶酸还原酶(MTHFR)基因多态性情况,分析血清Hcy水平及MTHFR基因多态性与血液病并发冠心病的关系。方法:回顾性收集2018年3月至2... 目的:观察血液病并发冠状动脉粥样硬化性心脏病(简称冠心病)患者血清同型半胱氨酸(Hcy)表达水平及亚甲基四氢叶酸还原酶(MTHFR)基因多态性情况,分析血清Hcy水平及MTHFR基因多态性与血液病并发冠心病的关系。方法:回顾性收集2018年3月至2020年3月本院完成治疗的血液病并发冠心病患者80例病历资料,纳入观察组。另选取同期本院完成治疗的单纯血液病患者92例病历资料,纳入对照组。抽取两组患者静脉血,检测血清Hcy水平及MTHFR基因多态性,对比两组不同MTHFR基因分型血清Hcy水平,分析上述指标对血液病并发冠心病的影响。结果:观察组MTHFR基因TT、TC检出率均高于对照组,而MTHFR基因CC分布频率明显低于对照组(P<0.05)。观察组MTHFR基因TC、CC基因型患者血清Hcy水平均明显高于对照组(P<0.05)。二元Logistic回归分析结果显示,MTHFR基因TC/CC基因型血清Hcy过表达可能是诱发血液病患者并发冠心病的影响因素(OR=2.107/OR=1.634,P<0.05)。绘制ROC曲线结果显示,MTHFR基因TC/CC基因型血清Hcy水平预测血液病并发冠心病的AUC均>0.8;当MTHFR基因TC达到最佳阈值22.165μmol/L时,敏感度为0.950,特异度为0.837;当MTHFR基因CC达到最佳阈值19.630μmol/L时,敏感度为0.938,特异度为0.826,可获得最佳预测价值。结论:血清Hcy及MTHFR基因多态性改变可能参与血液病患者并发冠心病的病理过程,在未来临床可通过早期检测血液病患者的血清Hcy水平及MTHFR基因多态性,预测血液病患者合并冠心病的风险。 展开更多
关键词 血液病 冠状动脉粥样硬化性心脏病 血清同型半胱氨酸 亚甲基四氢叶酸还原酶基因多态性 相关性
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载脂蛋白E基因多态性与血脂水平的关系 被引量:11
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作者 祝成亮 周新 +1 位作者 刘芳 胡汉林 《中国动脉硬化杂志》 CAS CSCD 2005年第2期203-206,共4页
目的 研究载脂蛋白E基因多态性与血脂水平的关系。方法 应用等位基因特异性多重聚合酶链反应对113例高脂血症患者和10 8例健康对照者进行载脂蛋白E基因型进行分析,并对其血脂水平进行检测。结果 高脂血症患者总胆固醇、甘油三酯、低... 目的 研究载脂蛋白E基因多态性与血脂水平的关系。方法 应用等位基因特异性多重聚合酶链反应对113例高脂血症患者和10 8例健康对照者进行载脂蛋白E基因型进行分析,并对其血脂水平进行检测。结果 高脂血症患者总胆固醇、甘油三酯、低密度脂蛋白胆固醇水平明显高于健康对照组(P <0 .0 5 ) ,而高密度脂蛋白胆固醇、载脂蛋白AⅠ水平明显低于正常对照组(P <0 .0 5 ) ;在载脂蛋白E的3种基因型中以载脂蛋白E3/3型多见,高脂血症患者中载脂蛋白Eε4等位基因频率明显高于健康对照组(P <0 .0 5 )。结论 载脂蛋白E基因多态性可能是高脂血症患者的遗传因素。 展开更多
关键词 内科学 载脂蛋白E基因多态性 聚合酶链反应 载脂蛋白E 基因多态性 高脂血症
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冠心病患者载脂蛋白E基因多态性及其与血脂的关系 被引量:7
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作者 杨丽霞 李松森 +4 位作者 齐峰 石燕昆 郭瑞威 郭传明 李明秋 《中国现代医学杂志》 CAS CSCD 北大核心 2008年第3期364-366,369,共4页
目的通过研究冠心病患者apoE基因多态性及其与血脂的关系,探讨冠心病的遗传易感因素。方法选取80例冠心病患者,60例健康人,通过聚合酶链反应-限制性片段长度多态性测定apoE基因多态性。结果CHD组携带E3/4基因型较对照组增高,对照组携带E... 目的通过研究冠心病患者apoE基因多态性及其与血脂的关系,探讨冠心病的遗传易感因素。方法选取80例冠心病患者,60例健康人,通过聚合酶链反应-限制性片段长度多态性测定apoE基因多态性。结果CHD组携带E3/4基因型较对照组增高,对照组携带E3/3基因型较CHD组增高(P<0.05)。E4等位基因频率分布CHD组明显高于对照组(P<0.05)。CHD组中TG、LDL-C血浓度较对照组增高,E3/4和E3/3基因型较E2/3基因型血中TG、LDL-C增高更明显(P<0.05)。结论apoEE4等位基因可能是冠心病的遗传易感因子,不同的基因型可能通过影响血脂而与冠心病发病有关。 展开更多
关键词 载脂蛋白E 冠心病 基因多态性 血脂
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广州市40~65岁居民载脂蛋白E基因多态性与血脂水平的关系 被引量:5
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作者 孙丽娜 张波 +4 位作者 许颖 周晓星 黄莉莉 卓淑雨 苏宜香 《中山大学学报(医学科学版)》 CAS CSCD 北大核心 2008年第2期181-185,共5页
【目的】探讨载脂蛋白E(apolipoprotein E,ApoE)基因多态性与广州市中老年人群血脂水平的关系,以期为进一步研究提供基础和线索。【方法】采用等位基因特异性多重聚合酶链反应(ARMS-PCR)技术对624名40~65岁广州居民进行ApoE基因多态性... 【目的】探讨载脂蛋白E(apolipoprotein E,ApoE)基因多态性与广州市中老年人群血脂水平的关系,以期为进一步研究提供基础和线索。【方法】采用等位基因特异性多重聚合酶链反应(ARMS-PCR)技术对624名40~65岁广州居民进行ApoE基因多态性检测,分析人群ApoE基因频率分布特点,并比较分析不同ApoE基因型血脂水平的关系。【结果】共检出6种基因型,以E3/3型最为常见,占67.95%,其次是E2/3和E3/4,分别占14.74%和13.62%,E2/4、E4/4和E2/2三种基因型分别占1.76%、1.12%和0.80%;等位基因以ε3分布频率最高,为82.13%,ε2、ε4等位基因频率分别为9.05%和8.81%;男性和女性ApoE基因型分布无差异。ε2等位基因携带者的TC、LDL、ApoB和LDL-C/HDL-C水平显著低于ε3和ε4等位基因携带者(allP<0.05),而ApoA1/ApoB则显著高于ε3、ε4等位基因携带者(P<0.01)。【结论】ε2等位基因携带者的血浆TC、LDL及ApoB水平较低,ε2等位基因有利于个体血脂维持在较理想水平。 展开更多
关键词 载脂蛋白E 基因多态性 血脂
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载脂蛋白E基因多态性对血脂水平的影响及与冠状动脉狭窄的关系 被引量:13
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作者 李卫华 黄德嘉 +2 位作者 杜修海 张卫泽 胡静泠 《中国动脉硬化杂志》 CAS CSCD 2000年第1期54-57,共4页
为探讨载脂蛋白E基因多态性对血脂水平的影响及与冠状动脉狭窄程度的关系 ,采用聚合酶链反应—限制片段长度多态性对 95例冠心病患者和 46例正常对照者载脂者蛋白E基因型进行分析 ,同时测定血脂及载脂蛋白B水平。并根据冠状动脉受累支... 为探讨载脂蛋白E基因多态性对血脂水平的影响及与冠状动脉狭窄程度的关系 ,采用聚合酶链反应—限制片段长度多态性对 95例冠心病患者和 46例正常对照者载脂者蛋白E基因型进行分析 ,同时测定血脂及载脂蛋白B水平。并根据冠状动脉受累支数不同将冠心病患者分为冠状动脉多支病变组和单支病变组。结果显示 ,5 5例冠状动脉病变多支组和 40例冠状动脉单支病变组E3/ 4基因型和ε4等位基因频率均高于对照组 (P <0 .0 1) ,且多支病变组E3/ 4基因型和ε4等位基因频率高于单支病变组 (P <0 .0 5 )。与E3/ 3及E2 / 3基因型比较 ,E3/ 4基因型者有较高的总胆固醇、低密度脂蛋白胆固醇和载脂蛋白B水平及较低的高密度脂蛋白胆固醇水平。与对照组比较 ,冠心病组E3/ 4基因型升高总胆固醇、低密度脂蛋白胆固醇和载脂蛋白B的作用及降低高密度脂蛋白胆固醇的作用更明显。表明载脂蛋白E基因多态性影响血胆固醇代谢 ,ε4等位基因与冠心病危险性增加有关 ,ε4等位基因频率升高的冠心病者冠状动脉受累支数加重 ,推测ε4等位基因可能与冠状动脉狭窄程度存在内在联系。 展开更多
关键词 载脂蛋白E 基因 多态性 冠状动脉再狭窄
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飞行员脂蛋白脂酶基因HindⅢ位点多态性与血脂水平的关系 被引量:6
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作者 蔡庆 刘红巾 +1 位作者 陈涛 朱美财 《西南国防医药》 CAS 2010年第7期723-726,共4页
目的了解飞行员脂蛋白脂酶(LPL)基因HindⅢ位点多态性与血脂的关系,为飞行员高脂血症的防治提供依据。方法采用聚合酶链反应——限制性片断长度多态性方法 ,检测106例飞行员和98例健康对照者LPL基因HindⅢ位点多态性,并用常规方法测定... 目的了解飞行员脂蛋白脂酶(LPL)基因HindⅢ位点多态性与血脂的关系,为飞行员高脂血症的防治提供依据。方法采用聚合酶链反应——限制性片断长度多态性方法 ,检测106例飞行员和98例健康对照者LPL基因HindⅢ位点多态性,并用常规方法测定其血脂水平。结果飞行员LPL基因HindⅢ位点3种基因型H+H+、H+H-和H-H-的频率分别为54.72%、34.90%和10.38%,两种等位基因频率H+和H-分别为0.72和0.28,与健康对照人群无显著差异。飞行员的高脂血症患病率(52.83%)明显高于对照人群(29.59%)。LPL基因HindⅢ位点3种基因型与血清TG和HDL-C水平相关,而血清TC和LDL-C水平在各基因型间无差异。结论 LPL基因HindⅢ位点多态性影响飞行员不同个体间血脂水平,环境因素是引起飞行员高脂血症的重要作用因子。 展开更多
关键词 飞行员 脂蛋白脂酶 基因多态性 血脂
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SAA遗传多态性与冠心病临床预后的关联研究 被引量:7
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作者 谢翔 宋长来 +5 位作者 吴雪琴 郑颖颖 刘芬 吴婷婷 李龙 马依彤 《新疆医科大学学报》 CAS 2018年第1期1-5,共5页
目的探讨血清淀粉样蛋白A(SAA)基因多态性和冠心病预后的关系。方法采用队列研究的方法,选择经皮冠状动脉内介入治疗(PCI)术后冠心病患者1 068例,其基因分型采用限制性片段长度多态性(RFLP)技术,随访时间定为PCI术后1 a,随访终点为支架... 目的探讨血清淀粉样蛋白A(SAA)基因多态性和冠心病预后的关系。方法采用队列研究的方法,选择经皮冠状动脉内介入治疗(PCI)术后冠心病患者1 068例,其基因分型采用限制性片段长度多态性(RFLP)技术,随访时间定为PCI术后1 a,随访终点为支架内血栓形成、非致死性心肌梗死、总死亡以及出血事件的发生率。结果研究结果发现,SAA基因多态性和冠心病PCI术后1 a心血管不良事件的发生无相关性。结论PCI术后患者SAA基因多态性和临床冠心病预后无关联性。 展开更多
关键词 血清淀粉样蛋白A 基因多态性 冠状动脉粥样硬化性心脏病 经皮冠状动脉内介入治疗
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H型高血压并发缺血性脑卒中患者MTHFR C677T基因多态性及血清Hcy水平的相关性研究 被引量:15
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作者 李雅静 张瑞 +1 位作者 吴欣 王鑫 《现代检验医学杂志》 CAS 2019年第2期9-13,共5页
目的探讨亚甲基四氢叶酸还原酶(MTHFR)基因C677T多态性及血清同型半胱氨酸(Hcy)水平与H型高血压并发缺血性脑卒中的相关性。方法首先采用病例-对照研究,随机选取491例研究对象,分为对照组(n=111)、缺血性脑卒中组(n=185)、H型高血压并... 目的探讨亚甲基四氢叶酸还原酶(MTHFR)基因C677T多态性及血清同型半胱氨酸(Hcy)水平与H型高血压并发缺血性脑卒中的相关性。方法首先采用病例-对照研究,随机选取491例研究对象,分为对照组(n=111)、缺血性脑卒中组(n=185)、H型高血压并发缺血性脑卒中组(n=195)。其次采用聚合酶链反应-芯片杂交法测定MTHFR基因型,采用循环酶法检测血清Hcy水平,最后通过统计学方法分析基因型在不同组间的分布情况,以及不同基因型患者的Hcy水平。结果各实验组和对照组相比,MTHFR基因型分布差异均具有统计学意义(χ~2=7.45~10.748,均P<0.05)。等位基因T频率和对照组比较,差异均具有统计学意义(χ~2=4.343~9.886,均P<0.05)。而H型高血压并发缺血性脑卒中组和缺血性脑卒中组比较,MTHFR基因型分布差异无统计学意义(χ~2=2.668,P=0.263)。各实验组TT型Hcy水平明显高于CT型和CC型,差异具有统计学意义(F=8.503~10.659,均P<0.05)。缺血性脑卒中组及H型高血压并发缺血性脑卒中组的Hcy水平(16.87±9.04,21.63±14.09μmol/L)均高于对照组Hcy水平(10.76±2.44μmol/L),差异具有统计学意义(F=37.942,P<0.001)。H型高血压并发缺血性脑卒中组的Hcy水平(21.63±14.09μmol/L)高于缺血性脑卒中组Hcy水平(16.87±9.04μmol/L),差异具有统计学意义(F=37.942,P<0.001)。结论 MTHFR基因多态性和血清高Hcy水平均可能为缺血性脑卒中的危险因素。对于H型高血压患者,更应注意在降压同时补充叶酸,以降低H型高血压患者缺血性脑卒中的发生率。 展开更多
关键词 亚甲基四氢叶酸还原酶 基因多态性 血浆同型半胱氨酸 H型高血压并发缺血性脑卒中
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载脂蛋白E基因多态性与心脑血管疾病的相关性 被引量:16
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作者 朱嫦琳 李炜煊 李美珠 《实用医学杂志》 CAS 北大核心 2017年第16期2773-2776,共4页
目的探讨载脂蛋白E(Apo E)基因多态性在常见心脑血管的发生发展中所起的作用。方法应用基因芯片方法检测1 427例心脑血管疾病患者和450例健康体检者的Apo E基因型,并比较Apo E不同表型患者血脂水平。结果病例组和对照组Apo E基因型均以... 目的探讨载脂蛋白E(Apo E)基因多态性在常见心脑血管的发生发展中所起的作用。方法应用基因芯片方法检测1 427例心脑血管疾病患者和450例健康体检者的Apo E基因型,并比较Apo E不同表型患者血脂水平。结果病例组和对照组Apo E基因型均以ε3/3频率最高;ApoE等位基因频率从高到低依次为ε3、ε2和ε4;其中病例组ε3/3基因型低于对照组(χ~2=12.562,P<0.01),而ε3/4基因型高于对照组(χ~2=27.442,P<0.01),病例组ε3等位基因频率低于对照组(χ~2=12.406,P<0.01),而ε4基因频率高于对照组(χ~2=36.112,P<0.01);病例组各组间的ApoE基因型和等位基因频率之间差异无统计学意义(P>0.05)。病例组TCH、TG、LDL-c和sd LDL均显著高于对照组,HDL-c显著降低,差异具有统计学意义(P<0.05);E2型患者TCH及LDL-c水平显著降低(P<0.05),而E4型患者TCH及LDL-c水平显著升高(P<0.05),其余指标未发现显著差异(P>0.05);ApoE基因型及ApoE表型均与LDL-c水平呈正相关(P<0.01)。结论 ApoE基因多态性在心脑血管疾病的发生发展中起着重要的作用。 展开更多
关键词 载脂蛋白E 心脑血管疾病 基因多态性 血脂
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血红素加氧酶1基因启动子区多态性与冠心病的相关性及其对血清胆红素水平的影响 被引量:6
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作者 王迎洪 马依彤 +3 位作者 付真彦 杨毅宁 谢翔 刘芬 《中国动脉硬化杂志》 CAS CSCD 2008年第10期834-837,共4页
目的探讨冠心病患者血红素加氧酶1启动子区(GT)n重复序列多态性与冠心病的相关性及其对血清胆红素水平的影响。方法采用聚合酶链反应-非变性聚丙烯酰胺凝胶电泳法检测337例冠心病患者和240例健康对照者血红素加氧酶1启动子区(GT)n重复... 目的探讨冠心病患者血红素加氧酶1启动子区(GT)n重复序列多态性与冠心病的相关性及其对血清胆红素水平的影响。方法采用聚合酶链反应-非变性聚丙烯酰胺凝胶电泳法检测337例冠心病患者和240例健康对照者血红素加氧酶1启动子区(GT)n重复序列多态性,同时测定血清胆红素水平。结果冠心病组与对照组LL基因型及L等位基因频率分布差异显著(P<0.05);L等位基因频率在冠心病不同病变程度之间分布差异显著(P<0.05),且LL基因型频率在多支血管病变组较单支和双支血管病变组高(P<0.05);LL基因型者胆红素水平较SS基因型者明显下降(P<0.001)。结论血红素加氧酶1启动子区(GT)n重复序列多态性与冠心病的发生发展及冠状动脉狭窄程度有关,L等位基因是冠心病的一个危险因素,可能与该基因多态性所致血清胆红素水平降低有关。 展开更多
关键词 内科学 血红素加氧酶1 血清胆红素 冠心病 基因多态性
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载脂蛋白E基因多态性与老年人群血脂的研究 被引量:4
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作者 肖志杰 赵水平 +3 位作者 聂赛 谭利民 蒋波 吴军 《中国老年学杂志》 CAS CSCD 北大核心 2005年第1期10-12,共3页
目的观察载脂蛋白E(ApoE)的遗传多态性与老年人血脂的关系。方法808例受试者,其中脑卒中430例、冠心病167例及对照组211例。采用聚合酶链式反应限制性片段多态性方法检测ApoE基因多态性。结果ApoE4表型携带者的TC、LDLC和ApoB水平显著高... 目的观察载脂蛋白E(ApoE)的遗传多态性与老年人血脂的关系。方法808例受试者,其中脑卒中430例、冠心病167例及对照组211例。采用聚合酶链式反应限制性片段多态性方法检测ApoE基因多态性。结果ApoE4表型携带者的TC、LDLC和ApoB水平显著高于ApoE2表型携带者(P<005),ApoE3/3表型携带者的LDLC水平也高于ApoE2表型携带者(P<005),而ApoE2表型携带者的HDLC水平显著高于ApoE4(P<005),这种作用在男女两性中相似。结论ApoE基因多态性影响老年人群血脂水平,无性别差异。 展开更多
关键词 载脂蛋白E 基因多态性 血脂
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雌激素受体基因多态性与高血压关系的研究 被引量:3
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作者 李栋 李艳 +3 位作者 黄宪章 张平安 刘军 李庚山 《临床检验杂志》 CAS CSCD 北大核心 2002年第2期69-71,共3页
目的 了解雌激素受体 (ER)基因多态性在中国汉族人群中的分布及其与原发性高血压 (EH)是否相关。方法 应用聚合酶链反应 (PCR)和限制性片段长度多态性 (RFLP)方法检测 97例EH患者和 118例正常对照者ER基因型 ,结合血脂水平探讨两者间... 目的 了解雌激素受体 (ER)基因多态性在中国汉族人群中的分布及其与原发性高血压 (EH)是否相关。方法 应用聚合酶链反应 (PCR)和限制性片段长度多态性 (RFLP)方法检测 97例EH患者和 118例正常对照者ER基因型 ,结合血脂水平探讨两者间的关系。结果 ER等位基因X、x和P、p频率在高血压组和对照组分别为 0 .2 4 7、0 .75 3、0 .16 9、0 .831;0 .4 0 2、0 .5 98、0 .339、0 .6 6 1。基因型频率分布符合Hardy Weinberg平衡定律。XbaⅠ和PvuⅡsg酶切多态性基因型频率 ,等位基因频率及结合XbaⅠ和PvuⅡ两个酶切多态性分析在组内、组间比较均无显著性差异 (P >0 0 5 ) ,且ER基因型间血脂水平在组内比较无统计学意义 (P >0 0 5 )。结论 在EH人群中存在着ERXbaⅠ和PvuⅡ基因多态性 ,但它们与EH无相关性 (P >0 0 5 ) ,不是EH的遗传易感因子。 展开更多
关键词 雌激素受体 基因多态性 血脂 高血压
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