广西壮族人群ABCA1基因R219K和I883M多态性的分布

目的 探讨ABCA1基因R219K和I883M多态性在广西壮族人群中的分布。方法 采用PCR—RFLP技术对100例无血缘关系的健康壮族人的ABCA1基因R219K位点G—A（Arg^219Lys）和1883M位点A—G（Ⅱe^883 Met）进行检测,121例无血缘关系的健康汉族人做对照。结果 在广西壮族人群中ABCA1基因R219K等位基因频率分别为R=0．640和K=0．360,I883M等位基因频率分别为I=0．305和M=0．695,壮族883 Ⅰ等位基因频率和Ⅱ纯合子基因型频率明显高于汉族,但R219K和I883M多态分布在壮族和汉族人群间的差异均无统计学意义（P〉0．05）。而两个位点分布与德国人群相比,差异有统计学意义（P〈0．05）。结论 ABCA1基因R219K及I883M位点多态性在广西壮族与汉族的分布没有差异,而有别于西方人种,提示该基因多态性具有种族差异性。该数据可以很好地应用于群体遗传学以及其与脂代谢疾病易感性的研究。     

ABCA1基因多态性R219K与帕金森症和阿尔兹海默症发病率的相关性研究

目的:探讨与研究三磷酸腺苷结合盒转运体A1 (Adenosine triphosphate (ATP)-binding cassette transporter A1)基因多态性R219K与帕金森症(Parkinson disease,PD)和阿尔兹海默症(Alzheimer disease,AD)发病率的相关性。方法:选择2016年2月到2019年8月在本院门诊与住院的帕金森症患者42例作为PD组,同期选择本院门诊与住院的阿尔兹海默症患者42例作为AD组,同期选择本院门诊健康体检者84例作为对照组。调查入选者的一般资料,检测三组血液样本的ABCA1基因多态性R219K情况并进行相关性分析。结果:AD组低密度脂蛋白(low-density lipoprotein,LDL-C)、总胆固醇(total cholesterol,TC)、甘油三酯(triglyceride,TG)与尿酸(Uric acid,UA)均低于对照组,而高密度脂蛋白(high-density lipoprotein,HDL-C)、同型半胱氨酸(homocysteine,Hcy)值高于对照组(P0.05);AD组TC均低于PD组,而HDL高于PD组。PD患者HDL-C均低于对照组,而LDL、TC和TG与对照组无差异(P0.05),三组空腹血糖(Fasting blood glucose,FBG)值对比差异无统计学意义(P0.05)。PD组与AD组的ABCA1 R219K GA基因型、A等位基因频率都显著高于对照组(P0.05),PD组与AD组对比差异无统计学意义(P0.05)。在168例入选者中,直线相关分析显示ABCA1 R219K GA基因型与A等位基因与帕金森症或阿尔兹海默症发生有显著相关性(P0.05)。结论:ABCA1基因多态性R219K在帕金森症和阿尔兹海默症患者中比较常见,ABCA1 R219K GA基因型与A等位基因可诱发帕金森症和阿尔兹海默症的发生。     

胆固醇7α-羟化酶基因 A-204C单核苷酸多态性及其与血浆血脂的关联

为探讨胆固醇7α-羟化酶基因(CYP7A1)多态性与中国四川汉族人群的分布及其与冠状动脉粥样硬化性心脏病(coronary heart disease,CHD)易感性的关系,对183例CHD患者和101例对照用聚合酶链反应-限制性片段长度多态性方法(PCR-RFLP)进行CYP7A1基因A-204C基因座Eco31I酶切多态性分析。结果可见CYP7A1基因A-204C多态基因座等位基因C、A频率在CHD组和正常对照组分别为0.840、0.160和0.822、0.178,基因频率分布符合Hardy-Weiberg平衡定律。CYP7A1基因A-204C多态基因座基因型频率,等位基因A、C频率在CHD患者组和正常对照组间比较差异无显著性(P>0.05),但冠心病患者组中AA,AC,CC3种基因型之间总胆固醇(TC)的差异具有显著性(P<0.05),AA基因型患者的高密度脂蛋白胆固醇(HDL-C)和低密度脂蛋白胆固醇(LDL-C)水平较AC,CC基因型患者显著降低(P<0.05);而对照组中CC,CA基因型个体间总胆固醇(TC)水平差异有显著性(P<0.05)。中国汉族与白种人CYP7A1基因A-204C多态基因座等位基因频率比较,两者差异具有显著性(P<0.01)。提示CYP7A1基因A-204C多态基因座多态性与CHD无相关性,但与总胆固醇存在较密切的关联(P相似文献   

白细胞介素6受体基因D358A多态与2型糖尿病的关联研究

目的:探讨湖北汉族人群中白细胞介素6受体基因(interleukin 6 receptorgene,IL6R)g 9外显子D358A多态与2型糖尿病(type 2 diabetes mellitus,T2DM)的关联.方法:采取病例-同胞对照和随机病例一对照两种实验设计,应用聚合~t-tt反应一限制性酶切片段长度多态性(PCR-RFLP)方法,对571例样本IL6R基因第9外显子D358A多态进行分析.结果:在所有样本及两种实验设计中,病例组与对照组基因型频率存在显著差异(P＜0.05),所有样本和随机样本设计中,T2DM组C等位基因频率显著低于对照组(P＜0.05),病例.同胞对样本设计中未发现显著差异(P＞0.05).单因素Logistic回归分析发现,CC基因型与T2DM显著相关(P＜0.05).结论:在中国湖北汉族人群中,IL6R基因第9外显子D358A多态性与2型糖尿病相关联,CC基因型是T2DM的保护因子.     

癫痫患儿SCN1A、MDR1 G2677TA、ABCB1 C3435T基因多态性与左乙拉西坦治疗效果的关系及疗效的影响因素分析

摘要 目的：探讨癫痫患儿SCN1A、MDR1 G2677TA、ABCB1 C3435T基因多态性与左乙拉西坦（LEV）治疗效果的关系及疗效的影响因素。方法：选择2019年6月至2021年7月在本院接受LEV治疗的癫痫患儿226例为研究对象,分析所有患儿基因型和等位基因分布情况;治疗3个月后根据治疗效果分为有效组和无效组,分析两组患儿SCN1A、MDR1 G2677TA、ABCB1 C3435T基因型及等位基因频率分布;采用单因素及多因素Logistic回归分析法分析影响临床疗效的因素。结果：癫痫患儿SCN1A rs4667869、SCN1A rs10497275、MDR1 G2677TA、ABCB1 C3435T基因型及等位基因分布频率有统计学差异（P＜0.05）。有效组SCN1A rs4667869的基因型GG、GC及等位基因G分布频率高于无效组（P＜0.05）,基因型CC及等位基因C分布频率低于无效组（P＜0.05）;有效组SCN1A rs10497275的基因型GA及等位基因G高于无效组（P＜0.05）,基因型AA及等位基因A分布频率低于无效组（P＜0.05）;有效组MDR1 G2677TA的基因型GT、TT及等位基因T高于无效组（P＜0.05）,基因型GG、AA及等位基因G分布频率低于无效组（P＜0.05）;有效组ABCB1 C3435T的基因型CC、CT及等位基因C分布频率高于无效组（P＜0.05）,基因型TT及等位基因T分布频率低于无效组（P＜0.05）。单因素分析显示,月发作频率和出生窒息史与LEV治疗癫痫患儿疗效有关。多因素Logistic回归分析显示,SCN1A rs4667869、SCN1A rs10497275、MDR1 G2677TA和ABCB1 C3435T基因型及等位基因、出生窒息史是LEV治疗癫痫患儿疗效的影响因素。结论：癫痫患儿SCN1A、MDR1 G2677TA和ABCB1 C3435T基因多态性与LEV治疗效果有关,其多种基因型是LEV治疗效果的影响因素。     

肿瘤坏死因子α基因启动子区多态性与皖南地区Graves病发生的关系

目的 探讨肿瘤坏死因子α（TNF-α）基因启动子区-238G/A和-308G/A多态与皖南地区汉族人Graves病（GD）发生的关系.方法 采用Taqman探针等位基因鉴别技术,检测和分析432例Graves病患者和629例正常对照者的TNF-α基因-238G/A和-308G/A多态位点的基因型和等位基因的频率.结果 TNF-α-238G/A和-308G/A多态基因型和等位基因频率在病例组和对照组的分布均无统计学差异（P＞0.05）,根据基因型分组进行临床病理特征比较亦未发现相关性.结论 TNF-α-238G/A和-308G/A多态与皖南地区汉族人GD发病无相关性.     

P21WAF1基因单核苷酸多态性和东北地区HPV相关宫颈癌的关系

研究P21WAF1基因单核苷酸多态性与中国东北地区人群HPV阳性宫颈癌风险的关系.以聚合酶链反应-直接测序的方法分析了340例宫颈癌患者标本P21WAF1基因rs1801270和rs3176352多态性,比较不同基因型与宫颈癌风险的关系.rs3176352多态在宫颈癌患者中的分布和正常对照组差异不显著,与宫颈癌风险无关.rs1801270多态在宫颈癌患者中的分布和正常对照组差异显著,宫颈癌患者中C等位基因频率、CC和AC基因型频率明显高于正常对照组(P＜0.05);与携带A等位基因者比较,携带C等位基因者罹患宫颈癌的风险增加1.366 7倍(95％ CI:1.1121～1.6792).P21WAF1基因rs1801270多态C等位基因是东北地区人群宫颈癌遗传易感因素.     

IL-6基因多态性与小儿全身炎症反应综合征的相关性研究

目的探讨白细胞介素-6（Interleuk in-6,IL-6）基因多态性与小儿全身炎症反应综合征（system ic inflamm atory response syndrom e,SIRS）的关系。方法 30例SIRS患儿为SIRS组,随机挑选30例健康体检的小儿为对照组,采用限制片段长度多态分析聚合酶链反应方法（PCR/RFLP）对2组儿童的IL-6基因的-174位点和-572位点基因进行分析;并应用酶联免疫吸附试验法（ELISA）检测2组儿童的血清IL-6水平,观察基因型对血清IL-6水平的影响。结果 IL-6基因-572位点基因型和等位基因频率在2组间分布差异有统计学意义,SIRS组GG基因型和G等位基因频率均显著高于对照组（P〈0.05）;携带G等位基因个体患SIRS的风险约是C等位基因型个体的6.84倍（OR95%CI：2.62～17.89,P〈0.05）;G等位基因携带者IL-6血清含量显著高于CC基因携带者（P〈0.05）。IL-6基因启动子-174位点在SIRS组与对照组中只发现GG基因型,CG和CC基因型在2组中均未发现;SIRS组IL-6血清水平显著高于对照组（P〈0.05）。结论 IL-6基因-572C/G多态性可能是中国汉族儿童SIRS发病的遗传危险因素之一,血清IL-6水平可能受其基因多态性的影响。而IL-6基因-174G/C多态性与中国汉族儿童SIRS发病可能不具有相关性。     

ApoE基因多态性与早发冠心病关系的研究

目的:研究载脂蛋白E(ApoE)基因多态性与早发冠心病CHD)的关系。方法:应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)基因分析方法,测定92例早发CHD、237例迟发CHD患者和220名对照者的ApoE基因型;血脂水平按常规方法测定。结果:发现的5种ApoE基因型,分别为E3/3、E2/2、E3/2、E4/3及E4/2。早发CHD组和迟发CHD组ApoE 4/3基因型和ε4等位基因频率均高于对照组(P＜0．01);进一步对两组CHD患者的ApoE多态性进行分析,发现早发组ε4等位基因频率较迟发组高(P＜0．05)。ApoE各等位基因型之间,TC和LDL-C水平之间存在统计学差异(P＜0．05)。结论:ApoE基因多态性与早发CHD的发生发展有关。     

白细胞介素23 受体基因rs6682925 多态与冠心病发病的相关关系

目的:本研究探讨白细胞介素23受体(Interleukin 23 Receptor,IL23R)基因单核苷酸多态位点(rs1884444与rs6682925)与中国北方汉族人群冠心病发病的相关关系。方法:本研究采用病例-对照的设计方法,收集568名冠心病患者以及45岁以上、年龄及性别匹配的524名正常对照个体为研究对象,采用测序法检测IL23R rs1884444与rs6682925单核苷酸多态性基因型,分析IL23R基因rs1884444与rs6682925单核苷酸多态位点的基因型及等位基因的分布情况。结果:IL23R rs6682925与rs1884444单核苷酸多态位点的基因型频率符合Hardy-Weinberg定律。IL23R基因rs6682925单核苷酸多态位点的三种基因型分布频率(CC型,TC型和TT型)在冠心病组为22.9%,39.6%和37.5%,在对照组分别为41.7%,47.2%和11.1%,IL23R基因rs6682925单核苷酸多态位点C等位基因是冠心病发病的一个独立的危险因素(P0.05);IL23R基因rs1884444单核苷酸位点的基因型和等位基因的频率在对照组和冠心病组之间不存在统计学差异(P0.05)。Logistic回归校正性别、年龄、体重指数、吸烟、高血压、高脂血症、糖尿病等冠心病的易患因素后,IL23R基因rs6682925 C等位基因仍是冠心病发病一个独立危险因素。结论:在中国北方汉族人群中,IL23R基因rs6682925 C等位基因可能是冠心病发病的独立危险因素。     

The relevance of <Emphasis Type="Italic">ABCA1</Emphasis> R219K polymorphisms and serum ABCA1 protein concentration to Parkinson’s disease pathogenesis and classification: a case–control study

To investigate the relevance of ABCA1 R219K polymorphisms and serum ABCA1 protein concentration to Parkinson’s disease (PD) pathogenesis and classification in Chinese population. Between June 2013 to January 2014, 108 patients diagnosed with PD at Department of Neurology, Tangshan People’s Hospital, Tangshan were enrolled in the PD group, and 123 healthy individuals, from Health Screening Center of the same hospital, with matched age, gender, and education were enrolled in the control group. Polymerase chain reaction–restriction fragment length polymorphism method was used to detect ABCA1 R219K polymorphisms and enzyme-linked immunosorbent assay used to measure serum ABCA1 concentrations. Frequencies of R/K and K/K genotypes, and K allele of ABCA1 R219K polymorphisms were significantly lower in the PD group than the control group (all P < 0.05). Significant differences existed in distributions of genotype frequencies, including R/R, R/K and K/K, between PD and control group of each classification (all P < 0.05). ABCA1 concentrations were significantly different in the PD and control group (P < 0.05); also ABCA1 concentrations were very different among PD patients with different genotypes (all P < 0.05). Serum concentrations of ABCA1were significantly different among PD patients in different classifications (all P < 0.05), suggesting the negative correlation between ABCA1 serum concentration and PD classification (r = ?0.776, P < 0.05). And serum concentrations of ABCA1 showed obvious differences among cases with three different genotypes in each classification (all P < 0.05). ABCA1 R219K polymorphisms and serum concentration were associated with pathogenesis and classification of PD, and K allele may be a protective genetic factor.     

PON基因簇潜在功能多态位点与冠心病的关联研究

在中国汉族人群PON基因簇序列筛查研究基础上,系统探讨PON基因簇所有潜在功能多态位点与国人冠心病的关系,以期明确PON基因簇序列变异是否国人冠心病的遗传危险因素。随机入选1997～1999年期间阜外心血管病医院病房收治的经冠状动脉造影确诊和/或有明确急性心肌梗塞病史男性冠心病患者474例及年龄(±2岁)匹配的男性健康对照475例。PCR产物直接测序法鉴定PON1基因-1076A/G、-908G/C、-831G/A、-162G/A、-126G/C和-107C/T多态基因型;等位基因特异性扩增方法鉴定PON2基因的A148G和S311C多态;PCR RFLP方法鉴定PON1基因R160G、Q192R和PON3基因-133C/A多态。单变量分析显示192Q, 160R,-162A和311C等位基因频率在病例组中显著高于对照组。以这4个多态性位点作为自变量的多元Logis tic回归分析发现仅R160G和-162G/A多态仍然与冠心病显著关联(P值分别为0.0054和0.0002),并独立于冠心病传统危险因素。不同多态组合的单体型分析进一步证实了单一SNP分析的结果,只有包含160R或-162A 等位基因的单体型在病例组中的频率显著高于对照组。中国北方汉族人群中,PON1基因-162G/A和R160G多态与冠心病独立关联,提示PON1基因可能是冠心病易感基因。     

APOC3基因SstⅠ单核苷酸多态性与冠心病、Ⅱ型糖尿病合并高甘油三酯血症的关联性研究

对许多人群研究表明 ,位于APOA1/C3/A4 /A5基因簇上的载脂蛋白C3基因 (APOC3)SstⅠ多态性与高甘油三酯血症 (Hypertriglyceridaemia ,HTG)密切相关 ,高甘油三酯是冠心病和糖尿病的独立危险因素。为探讨中国人群APOC3基因SstⅠ单核苷酸多态性与冠状动脉粥样硬化性心脏病 (coronaryatheroscleroticheartdisease,CHD)合并高甘油三酯血症 (HTG)、Ⅱ型糖尿病 (non insulin dependentdiabetesmellitus,NIDDM)合并高甘油三酯血症 (HTG)患者的相关性 ,应用聚合酶链反应 限制性片段长度多态性 (PCR RFLP)的方法 ,分析了 2 6 7例CHD患者、2 4 6例NIDDM患者及 4 91例健康对照APOC3基因SstⅠ位点 (S1/S2 )多态性。CHD组、NIDDM组和对照组的APOC3基因SstⅠ多态位点S2等位基因频率分别为 0 30 1、0 30 7和 0 2 86 ,其基因型频率和等位基因频率分布与对照组比较均无显著性差异 (P >0 0 5 )。以TG >1 90mmol/L为标准将CHD组、NIDDM组分为正常甘油三酯组 (NTG)和高甘油三酯组(HTG)发现 ,在CHD患者 ,HTG亚组S1S2基因型频率显著高于NTG亚组 (0 5 4 2 >0 35 7,χ2 =8 77,P =0 0 12 4 ) ;在NIDDM患者 ,HTG亚组S2S2基因型频率显著高于NTG亚组 (0 2 0 0 >0 0 5 5 ,χ2 =2 0 2 1,P =0 0 0 0 0 ) ,两亚组间等位基因频     

The Relationship between Gene Polymorphism and CRP Level in a Chinese Han Population

We investigated the relationships among the +1444C/T polymorphism in the C-reactive protein (CRP) gene and the concentration of CRP and the risk of coronary heart disease. Using polymerase chain reaction-restriction fragment length polymorphism, we analyzed the frequency distribution of genotypes and alleles of the +1444C/T polymorphism in samples from 128 patients with coronary heart disease (coronary stenosis more than 50%) and 119 unrelated normal individuals. The plasma levels of CRP and lipids in the subjects were also measured. The frequencies of the genotypes were CC 89.1%, CT 10.9%, and TT 0% in patients and CC 89.9%, CT 10.1%, and TT 0% in controls. The frequency of allele C was 94.5% in patients and 95.0% in controls, and allele T was 5.5% in patients and 5.1% in controls. The distribution of genotypes and alleles in the Chinese Han population was significantly different from that of the Caucasian population. There were no significant differences between frequencies of genotype and allele of controls and those of patients (P>0.05), but in controls the concentrations of CRP in the CC genotype subgroup were significantly higher than those in the CT genotype subgroup (P<0.05). This suggests that the +1444C/T variant in the CRP gene influences the basal CRP level in normal people. These findings imply that there may eventually be a need to establish genotype-specific risk thresholds of the CRP level.     

ACE基因多态性与高血压肾脏损害及PAI-1的关系

为探讨血管紧张素转换酶（ACE）基因多态性与高血压肾损害和纤溶酶原激活物抑制物-1（PAI-1）的关系,应用聚合酶链反应（PCR）检测96例正常人、67例高血压无肾脏损害患者和70例高血压伴肾损害患者的ACE基因型,采用ELISA法检测血浆PAI-1。ACE基因I/D多态性与高血压病无明显相关,但高血压肾损害患者DD基因型频率及D等位基因频率显著高于对照组和高血压无肾脏损害组,χ2值分别为6.8589、5.6162 和5.9085、5372。血浆PAI-1在DD型、ID型、II型高血压患者之间亦有显著性差异（P＜0.05）。ACE基因DD型可能是高血压肾损害的危险因素;ACE基因多态性与血浆PAI-1水平相关。 Abstract:The work is to explore the relationship between the polymorphism of angiotensin converting enzyme(ACE) gene and hypertensive kidney lesion/PAI-1 in hypertension patients.ACE genotyping with polymorase chain reaction (PCR) was performed in 96 unrelated healthy controls,67 hypertensives without kidney lesion and 70 hypertensives complicated with kidney lesion.The plasma PAI-1 were determined with ELISA.No significant differences could be detected between ACE gene I/D polymorphism and hypertension.However,the frequencies of DD genotype and deletion allele among the hypertensives complicated with kidney lesion were higher than those among the healthy controls and those among the hypertensives without kidney lesion."χ2" values were 6.8589,5.6162 and 5.9085,5.372 respectively.The plasma PAI-1 level showed significant differences among DD genotype,ID genotype and II genotype(P＜0.05).The DD genotype of ACE gene may be a risk for hypertensive kidney lesion.The plasma PAI-1 level is associated with ACE gene polymorphism.     

新疆地区维吾尔族和汉族人群CaSR基因多态性与草酸钙肾结石关系的研究

目的:探讨新疆地区维吾尔族和汉族草酸钙结石与钙敏感受体(calcium sensitive receptor,Ca SR)基因多态性之间的关系。方法:选择398例临床确诊泌尿系草酸钙结石患者(200例维吾尔族,198例汉族)和399例正常对照者(200例维吾尔族,199例汉族),应用Sna Pshot方法对Ca SR基因两位点(rs1042636,rs1801726)的基因型及等位基因频率进行检测,并分析其与草酸钙结石发病的相关性以及对血钙、24 h尿钙水平的影响。结果:各组2个位点的基因型分布均符合Hardy-Weinberg平衡。汉族结石组与汉族对照组及维吾尔族结石族与维吾尔族对照组rs1042636、rs1801726位点基因型分布及基因频率差异均无统计学意义(P0.05)。维吾尔和汉族rs1042636基因型及等位基因频率比较差异有统计学意义(P0.05),且维吾尔族人群携带rs1042636等位基因A的风险高于汉族人群(病例组中OR值=2.145,%95CI=[1.602~2.866],P0.01;对照组中OR值=1.773,%95CI=[1.332~2.359],P0.01),其中维/汉病例组中等位基因频率分别为A=278(69.5%)/204(51.5%),G=122(30.5%)/192(48.5%);维/汉对照组中等位基因频率分别为A=264(66.0%)/208(52.3%),G=136(34.0%)/190(47.7%)。而病例组和对照组rs1801726基因型频率差异无统计学意义(P0.05);汉族病例组、对照组发现GG+AG基因型较AA基因型有较高的尿钙水平(病例组:P=0.007和对照组:P=0.006),维吾尔族人群该位点与两项指标无相关性。结论:Ca SR基因2个基因位点rs1042636、rs1801726可能不是新疆地区维吾尔族和汉族草酸钙结石发病的危险因子,两族rs1042636基因多态性分布存在差异,rs1042636位点基因多态性能影响汉族人群尿钙排泄,可能汉族调节钙排泄的遗传因素之一。     

ATP-binding cassette transporter A1 R219K polymorphism and coronary artery disease in Chinese population: a meta-analysis of 5,388 participants

The ATP-binding cassette transporter A1 (ABCA1) R219K gene polymorphism has been suggested to lower the risk of coronary artery disease (CAD). However, research results remain debatable. Meta-analysis involving 2,730 CAD patients and 2,658 controls was performed to investigate the relationship between ABCA1 R219K gene polymorphism and CAD in Chinese population. A total of 14 studies which were obtained from electronic databases were analyzed. The pooled odds ratios (ORs) and their corresponding 95?% confidence intervals (95?% CIs) were estimated by a random effect model. A significant association between ABCA1 R219K gene polymorphism and CAD was found in the Chinese population under the following genetic models: an allelic genetic model (OR 0.70, 95?% CI 0.62–0.78, P?<?0.00001), a recessive genetic model (OR 0.51, 95?% CI 0.41–0.64, P?<?0.00001), an additive genetic model (OR 0.816, 95?% CI 0780–0.855, P?=?0), a dominant genetic model (OR 1.326, 95?% CI 1.232–1.427, P?=?0), a homozygote genetic model (OR 0.640, 95?% CI 0.575–0.712, P?=?0), and a heterozygote genetic model (OR 0.640, 95?% CI 0.575–0.712, P?=?0). The K allele of the ABCA1 R219K gene has a protective role for CAD risk in Chinese population and is possibly associated with decreased CAD susceptibility.     

内皮型一氧化氮合酶基因多态性与高血压合并脑 梗塞的关系

目的:探讨内皮型一氧化氮合酶(eNOS)基因894G/T多态性与原发性高血压(EH)合并脑梗塞(CI)的关系。方法:应用聚合酶链反应限制性片段长度多态性方法检测湖北地区汉族74例健康者(NT组)、103例原发性高血压无合并症者(EH组)及70例原发性高血压合并脑梗塞者(EH-CI组)的eNOS基因型;生化技术测定其血脂、一氧化氮代谢物(NOM)水平。结果:EH组及EH-CI组患者的T等位基因频率分别为0.224和0.321,均显著高于NT组(P<0.05);且两者之间的T等位基因频率差异显著性(P<0.05);EH-CI组中,GT+TT基因型者的舒张压显著高于GG基因型者(P<0.05),而NOM显著低于GG基因型者。结论:eNOS基因894位G/T多态性可能与汉族高血压病患者伴脑梗塞有关,该位点多态性可能使T等位基因携带者NOM减少,进而参与EH-CI发病。     

Effects of R219K polymorphism of ATP-binding cassette transporter 1 gene on serum lipids ratios induced by a high-carbohydrate and low-fat diet in healthy youth

Background

Diets are the important players in regulating plasma lipid profiles. And the R219K polymorphism at the gene of ATP-binding cassette transporter 1(ABCA1) was reported to be associated with the profiles. However, no efforts have been made to investigate the changes of lipid profiles after a high-carbohydrate and low-fat diet in different subjects with different genotypes of this polymorphism. This study was to evaluate the effects of ABCA1 R219K polymorphism on serum lipid and apolipoprotein (apo) ratios induced by a high-carbohydrate/low-fat (high-CHO) diet. After a washout diet of 54.1% carbohydrate for 7 days, 56 healthy young subjects (22.89 ± 1.80 years old) were given a high-CHO diet of 70.1% carbohydrate for 6 days. Height, weight, waist circumference, hip circumference, glucose (Glu), triglyceride (TG), total cholesterol (TC), high density lipoprotein cholesterol (HDL-C), low density lipoprotein cholesterol (LDL-C), apoA-1 and apoB-100 were measured on the 1^st, 8^th and 14^th days of this study. Body mass index (BMI), waist-to-hip ratios (WHR), log(TG/HDL-C), TC/HDL-C, LDL-C/HDL-C and apoA-1/apoB-100 were calculated. ABCA1 R219K was analyzed by a PCR-RFLP method.

Results

The results indicate that the male subjects of all the genotypes had higher WHR than their female counterparts on the 1^st, 8^th and 14^th days of this study. The male K carriers had higher log(TG/HDL-C) and TC/HDL-C than the female carriers on the 1^st and 14^th days, and higher LDL-C/HDL-C on the 14^th day. When compared with that on the 8^th day, TC/HDL-C was decreased regardless of the genotypes and genders on the 14^th day. Log(TG/HDL-C) was increased in the males with the RR genotype and the female K carriers. Lowered BMI, Glu and LDL-C/HDL-C were found in the male K carriers, but only lowered BMI in the female K carriers and only lowered LDL-C/HDL-C in the females with the RR genotype.

Conclusions

These results suggest that ABCA1 R219K polymorphism is associated differently in males and females with elevated log(TG/HDL-C) and decreased LDL-C/HDL-C induced by the high-CHO diet.