Polymorphisms of the coagulation factor Ⅶ gene and its plasma levels in relation to acute cerebral infarction differences in allelic frequencies between Chinese Han and European populations

Background Coagulation factor Ⅶ (F Ⅶ) levels in plasma are usually related to ischemic heart disease (IHD) and cerebral infarction shares many of the risk factors related to IHD. Is there any relationship between factor Ⅶ and cerebral infarction? We investigated the relationship between F Ⅶ and acute cerebral infarction and reported genotype frequencies and allelic frequencies of FⅦ gene polymorphisms in the Chinese Han population.Methods We recruited 62 patients with acute cerebral infarction confirmed by magnetic resonance imaging (MRI) from Ruijin Hospital, and 149 age-matched patients clinically free of vascular disease to act as controls. All of them were unrelated, and were from the Chinese Han population. FⅦ coagulant activity (FⅦc) was determined using an clotting assay, activated FⅦ (FⅦa) and FⅦ Ag were assayed using enzyme immunoassay kits. The FⅦ gene polymorphisms to be detected included-401G/T, -402G/A, 5’F7A1/A2, IVS7 and R353Q. 5’F7 and IVS7 were revealed by means of a PCR and direct agarose gel electrophoresis. The rest were examined by a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results The results showed that FⅦc, FⅦAg and FⅦa were higher in the acute cerebral infarction group than in the control group (P<0.01, P<0.05, P<0.05, respectively). There were no significant differences in the genotype frequencies of FⅦ gene polymorphisms between the two groups. The allelic frequencies in the Chinese Han population were as follows: -401G/T (96.64/3.36), -402G/A (52.01/47.99), 5’F7A1/A2(96.64/3.36), IVS7 H5/H6/H7/H8 (0.34/52.35/46.98/0.34) and R353Q (95.64/4.36). There were significant differences (P<0.01, P<0.001, P<0.001, P<0.001, P<0.001, respectively) in these allelic frequencies between the Chinese Han and European populations.Conclusions The results indicate that increased plasma FⅦ levels may contribute to thrombosis in cerebral infarction. And there was no significant difference in genotype frequencies of these five FⅦ gene polymorphisms between the acute cerebral infarction and control groups. Moreover, these results showed that the frequencies of protective allele, including -401T, 5’F7 A2 and 353Q were lower, but that -402A, which was previously found to be associated with increased plasma FⅦ levels, is higher in Chinese Han population.     

Polymorphisms in the coagulation factor Ⅶ gene and the risk of myocardial infarction in patients undergoing coronary angiography

Objective To investigate whether coagulation factor Ⅶ (FⅦ) polymorphisms play a role in the pathogenesis of coronary artery disease (CAD) and/or myocardial infarction (MI) in a series of Hans.Methods The Arg353Gln and HVR4 polymorphisms of FⅦ gene were determined in 374 patients undergoing selective coronary angiography by PCR and restriction fragment length polymorphism assay.Results The FⅦ genotype distribution was in accordance with Hardy-Weinberg equilibrium. The frequencies of FⅦ genotypes or alleles did not show significant differences between the CAD group and the controls or between the males and the females. The frequencies of carriers of the Gln353 allele and (Arg/Gln+Gln/Gln) genotypes were significantly higher in the CAD patients without MI than in those with MI （P=0.031, odds ratio 0.37, 95% CI: 0.15-0.94）. However, HVR4 polymorphisms were not significantly different between the two groups (P>0.05).Conclusion Carrying the F Ⅶ Gln353 gene may be a protective factor against MI in the Chinese Hans.     

Gene polymorphism in apolipoprotein E and presenilin-1 in patients with late -onset Alzheimer’s disease

Objective To evaluate the association of apolipoprotein E (apoE) and presenilin-1 (PS-1) gene polymorphism with late-onset Alzheimer’s disease (AD). Methods A case-control study was undertaken to detect the polymorphism of apoE and PS-1 by polymerase chain reaction and digestion with the endonucleases of BspL Ⅰ, Hha Ⅰ and BamH Ⅰ. Results The frequencies of apoE ε3/4 genotype and ε4 allele in late-onset AD (n=42) were significantly higher than those of age-matched controls (P<0.05). The frequencies of the apoE intron 1 enhancer (IE1) G/G genotype and G allele in late-onset AD were also significantly higher than those in controls (P<0.05). The frequencies of the PS-1 1/1 genotype but not the 1 allele in AD were significantly higher than those in controls (P<0.05).The apoE ε4 allele was associated with a tripling of risk for late-onset AD compared with that with no ε4 allele (odds ratio: 2.932). Homozygosity of the G allele in IE1 and 1/1 genotype in PS-1 was associated with a doubling of risk for late-onset AD, and odds ratios were 2.223 and 2.066, respectively.When the apoE ε4 was controlled, the association between the IE1 G/G genotype AD was no longer statistically significant (P>0.05). We sequenced the exon 4 of apoE in patients with late-onset AD, and found no other genetic polymorphism or mutation except for apoE ε4 and IE1 G alleles associated with AD. Conclusion apoE ε4 gene appears to be the strongest gene risk factor for late-onset AD and its apparent association between the IE1 G/G genotype and late-onset AD is a consequence of the association between the ε4 and IE1 G/G genotype.The PS-1/1 genotype is weakly associated with late-onset AD.     

Effect of micronized fenofibrate on vascular endothelial function in patients with hypertriglyceridemia

Objective To investigate the effect of micronized fenofibrate on vascular endothelial function in patients with hypertriglyceridemia. Methods Using high-resolution ultrasound, we measured flow- and nitroglycerin-induced dilatation of the brachial artery in 30 patients with hypertriglyceridemia before and after treatment with micronized fenofibrate at a dose of 200 mg once daily for 4 weeks. Simultaneously, both serum lipid and plasma endothelin (ET) levels were determined.Results After micronized fenofibrate therapy, serum triglyceride (TG) levels decreased significantly (P<0.05). Plasma ET levels also decreased markedly ［(82.66±15.46） μg/L vs. （106.22±19.16） μg/L, P<0.001］. Flow-induced vasodilatation was much improved (11.0%±9.0% vs 2.7%±2.0%, P<0.01). However, no significant changes in vasodilatation occurred in response to nitroglycerin (16.2%±6.0% vs 15.0%±5.0%, P>0.05) in patients with hypertriglyceridemia. Conclusions Micronized fenofibrate can improve impaired endothelium-dependent vasodilatation in patients with hypertriglyceridemia. Improving endothelial function may also be the mechanism responsible for the beneficial effects of micronized fenofibrate.     

Osteopontin gene polymorphism in association with systemic lupus erythematosus in Chinese patients

Background Osteopontin (OPN) is one kind of cytokine which can play a number of roles in promoting activation of T lymphocyte, regulating balance between Th1 and Th2, participating in cell-induced immunologic response and stimulating B lymphocyte to express multi-clone antibodies. Some researches have showed that OPN may be involved in the pathogenesis of systemic lupus erythematosus (SLE). The aim of this study was to investigate possible association of a single nucleotide polymorphism（SNP）at position 9250 in exon 7 of the OPN gene (OPN gene 9250) with SLE in Chinese patients.Methods Totally 158 patients (18 males and 140 females) fulfilled the revised criteria for SLE by the American College of Rheumatology in 1982 and 180 healthy volunteer controls (34 males and 146 females), all from the south of China, consented to participate in the study. OPN gene 9250 polymorphism was detected by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP).Results The frequency of TT genotype of the OPN gene 9250 was significantly lower (52.5% vs 70%, P<0.05) and the frequency of TC genotype of the OPN gene 9250 was significantly higher (43.7% vs 29.4%, P<0.05) in SLE patients than in controls. There were significant differences in OPN gene 9250 allele and phenotype frequencies between the SLE patients and controls (P<0.05). When the SLE patients and controls were separated into men and women, significant differences of frequencies were noted in TT genotype, TC genotype and allele of the OPN gene 9250 in women (P<0.05) but not in men (P>0.05). Conclusions OPN gene 9250 polymorphism appears to be associated with susceptibility to SLE in Chinese Han ethnic population.     

Effects of catecholamine-β-adrenoceptor-cAMP system on severe patients with heart failure

Objective To investigate the association between catecholamine-β-adrenoceptor (β-AR)-adenosine 3’, 5’-monophosphate (cAMP) system and long-term　prognosis in patients with chronic heart failure (CHF).Methods The study population comprised 73 patients with CHF (EF: 23%±10%) with a mean follow-up of 3.8±1.9 years. Plasma levels of norepinephrine (NE) were measured using high performance lipid chromatography, β-adrenergic receptor density (Bmax) and the content of cAMP in peripheral lymphocytes were calculated using 3H-dihydroalpneolo as ligand and competitive immunoassay, respectively. Deaths due to cardiovascular events within the follow-up period were registered.Results The total mortality was 64.7%, 57.4% of which was for cardiogenic (worsening heart failure: 32.4%; sudden death: 25.0%). In the cardiogenic death group, plasma levels of NE and epinephrine (E) (3.74 nmol/L±0.09 nmol/L and 3.17 nmol/L±1.0nmol/L) and the contents of peripheral lymphocyte cAMP (3.64 pmol/mg protein±1.4 pmol/mg protein) were significantly increased as compared with the survival group (2.68 nmol/L±0.07 nmol/L, 2.41 nmol/L±0.24 nmol/L and 2.73 pmol/mg protein±0.9 pmol/mg protein, respectively, all P<0.01). In the sudden death group, plasma levels of NE and E (5.01 nmol/L±0.06 nmol/L and 4.13 nmol/L±0.08 nmol/L) were significantly increased as compared with the worsening heart failure group (2.49 nmol/L±0.07 nmol/L and 2.33 nmol/L±0.8 nmol/L, all P<0.001) and to the survival group (2.68 nmol/L±0.07 nmol/L and 2.41 nmol/L±0.14 nmol/L, all P<0.01). The incidences of sudden death were 0%, 75%, and 100% (χ2=16.018, P<0.01) in patients with plasma NE<2.5 nmol/L, NE 2.5 nmol/L-4.5 nmol/L, and NE>4.5 nmol/L, respectively. In the worsening heart failure group, the content of peripheral lymphocyte cAMP (4.46 pmol/mg protein±0.18 pmol/mg protein) was significantly increased compared with the sudden death group (2.39 pmol/mg protein±0.9 pmol/mg protein, P<0.001) and to the survival group (2.73 pmol/mg protein±1.1 pmol/mg protein, P<0.001). The worsening heart failure death occurences were 5.0%, 72.2%, and 100% (χ2=14.26, P<0.01) in patients with a content of peripheral lymphocyte cAMP <2.5 nmol/L, cAMP 2.5 nmol/L-4.5 nmol/L, and cAMP>4.5nmol/L, respectively. Bmax in peripheral lymphocyte was not significantly different (P>0.05) among the sudden death, worsening heart failure, and survival groups in CHF patients.Conclusions Plasma levels of catecholamine increase significantly, and Bmax and the contents of cAMP in peripheral lymphocytes decrease significantly in patients with CHF. High plasma catecholamine levels may be associated with sudden death, and high intralymphocyte cAMP content may be associated with worsening heart failure in CHF patients.     

Relationships among apolipoprotein A1 gene polymorphisms, lipid levels and coronary atherosclerosis disease

Objective To investigate the relationship among -75 bp/+83 bp polymorphism in apolipoprotein A1 (apo A1) gene, lipids levels and the occurrence of coronary atherosclerosis disease (CAD). Methods We determined distributions of two MspI polymorphisms of the apo A1 gene at -75 bp and +83 bp, and blood lipids levels among 137 Chinese patients (92 with CAD and 45 in the control group) in relation to circulating lipids and coronary angiography. Results The demographic information for 137 subjects showed that subjects with CAD tended to have more unfavorable lipoprotein variables. Genotype distributions at both sites were different between the CAD and control groups. Furthermore, the control group had higher M1-/M2- frequencies than the CAD group (M1: P<0.005; M2: P<0.05) and the “M1-”(A) and “M2-” alleles were associated with increased high-density lipoprotein cholesterol (HDL-C) (M1-: P<0.0001; M2-: P<0.05) and apo A1 (M1-: P<0.0001; M2-: P<0.05) levels. “M1-” and “M2-” were significantly negatively correlated with CAD (P<0.01 and P<0.05, respectively). Conclusions Our results suggest that changes from G to A at the -75 bp site and from C to T or G to A at the +83 bp site do increase circulating levels of apo A1 and HDL-C. And those individuals with these changes are likely to have a lower risk of developing CAD.     

Effects of angiotensin Ⅱ receptor antagonist on expression of collagen Ⅲ, collagen Ⅴ, and transforming growth factor β1 in the airway walls of sensitized rats

Background Repeated attacks of bronchial asthma lead to different degrees of airway remodeling, the mechanism of which is not yet clear. Some evidences indicate that it is related to the excessive expression of some growth promotion factors. Angiotensin Ⅱ is a polypeptide that may be involved in airway remodeling. To evaluate its role in airway remodeling in asthma, we observed the effects of an angiotensin Ⅱ type 1 receptor antagonist (valsartan) on the expression of collagen Ⅲ, collagen Ⅴ, and transforming growth factor β1 (TGF-β1) mRNA and protein in the airway walls of sensitized rats.Methods Forty Wistar rats were randomly divided into 5 groups: control group, sensitized group, and valsartan groups 1, 2, and 3. The rats in the sensitized group and in valsartan groups 1, 2, and 3 were sensitized and challenged with ovalbumin. Rats in control group were sensitized and challenged with 0.9% NaCl. Rats from valsartan groups 1, 2, and 3 were drenched with valsartan (10 μg, 20 μg, or 30 μg, respectively) at the time of the ovalbumin challenges. The expression of collagen Ⅲ, collagen Ⅴ, and TGF-β1 protein were detected using immunohistochemical method in combination with image analysis methods. The expression of TGF-β1 mRNA was detected by in situ hybridization. Results The expression in the airways of collagen Ⅲ and collagen Ⅴ was significantly higher in rats from the sensitized group (7.73±0.81, 1.34±0.28) and from valsartan groups 1, 2, and 3 (5.73±0.64, 1.13±0.15; 4.96±0.51, 0.98±0.08; 4.43±0.35, 0.93±0.06, respectively) than those in the control group (2.65±0.38, 0.67±0.08, P<0.05). In addition, collagen levels were significantly lower in valsartan groups 1, 2, and 3 than those from the sensitized group (P<0.05). The expression of TGF-β1 mRNA and protein in the airways was significantly higher in rats from the sensitized group (20.49%±3.46%, 29.73%±3.25%) and from valsartan groups 1, 2, and 3 (16.47%±1.94%, 19.41%±1.87%; 14.38%±1.58%, 18.29%±1.43%; 12.96%±1.73%, 18.63%±1.11%, respectively) than that from the control group (7.84%±1.61%, 5.63%±1.07%, P<0.05). TGF-β1 mRNA and protein levels were significantly lower in valsartan groups 1, 2, and 3 than that in the sensitized group (P<0.05). Conclusions Angiotensin Ⅱ receptor antagonist valsartan can suppress synthesis of collagen Ⅲ and collagen Ⅴ by downregulating TGF-β1 mRNA and protein expression. Valsartan can decrease airway remodeling and could play a role in asthma therapy.     

延边朝鲜族人群Ⅰ型胶原蛋白A2基因MspI多态性位点研究

[目的 ]了解中国朝鲜族人群的Ⅰ型胶原蛋白A 2基因MspI多态性位点的存在和等位基因频率 ,并与其它地区人群进行比较 .[方法 ]按酚 氯抽提法提取人类基因组DNA ,采用聚合酶链反应 限制性片段长度多态性方法对Ⅰ型胶原蛋白A 2基因MspI多态性位点进行检测 .[结果 ]12 0名个体中 ,无酶切位点的纯合个体为 89例 ,P-P-基因型频率为 74 2 % ;有酶切位点的杂合个体为 2 2例 ,P+ P-基因型频率为 18 3% ;有酶切位点的纯合个体为 9例 ,P+ P+ 基因型频率为 7 5 % ;2 4 0个等位基因中MspI酶切位点基因P+ 的频率为 16 7% .[结论 ]延边朝鲜族人群Ⅰ型胶原蛋白A 2基因存在多态性 ,Ⅰ型胶原蛋白A 2基因MspI多态性分布与其它地区人群的分布有所不同 ,可以作为朝鲜族的一个遗传标记 .     

His348Gln杂合突变伴hrg353Gln杂合多态性导致的遗传性凝血因子Ⅶ缺陷症家系分析

目的：对1例遗传性凝血因子Ⅶ（FVH）缺陷患者进行基因分析和家系调查,初步探讨其发病的分子机制。方法：检测先证者及其家系成员凝血酶原时间（PT）、活化部分凝血活酶时间（APTT）、纤维蛋白原（FIB）、凝血酶原活性（FII：C）、凝血因子V活性（FV：C）、FVII活性（FVII：C）和凝血因子x活性（FX：C）及FVII抗原（FVII：Ag）等进行表型诊断;用DNA直接测序法分析先证者Ⅳ基因的全部外显子、侧翼、5’和3’非翻译区及家系成员相应的突变位点区域,用反向测序证实所发生的突变。结果：先证者PT延长为22．4s,FVII：C和FVII：Ag明显降低,分别为7％和10％;父亲、母亲、姐姐及儿子的PT正常或稍延长,FVII：c分别为63％、54％、57％和46％,FVH：Ag分别为67％、53％、61％和49％;先证者和所有家系成员的APTT及其他凝血指标均在正常参考范围内。测序发现先证者Ⅳ基因第8号外显子存在g．11482T〉G（His348Gln）杂合突变和g．11496G〉A（Arg353Gln）杂合多态性;其母亲、姐姐、儿子均存在F7基因g．11482T〉G杂合突变;父亲存在,7基因g．11496G〉A杂合多态性。结论：肜基因His348Gln杂合突变协同Arg353Gln杂合多态性是导致该先证者FVII缺陷症的分子机制。     

代谢综合征PPARγ C-161T基因多态性与颈动脉损害的相关研究

目的　明确代谢综合征 (MS)患者过氧化物酶体增殖物激活受体 γ(PPARγ)C 16 1T基因多态性与颈动脉粥样硬化的关系。方法　检测 2 4 8例MS、16 3例高血压病 (EH)、115例 2型糖尿病 (DM )患者和 12 1名正常对照的体重指数 (BMI)、腰围、血脂、空腹血糖 (FBG)、空腹血浆胰岛素(FINS)、尿酸 (UA)、游离脂肪酸 (FFA)和颈动脉超声 ,聚合酶链反应 限制性片断多态性方法测定PPARγC16 1 T基因多态性。结果　MS组腰围和BMI明显高于对照组、EH组和DM组。MS和EH组血压明显高于对照组和DM组。MS组PPARγCC型 (74 6 % )明显高于对照组 (6 1 1% ) ,T等位基因携带者 (CT TT) (2 5 4 % )明显低于对照组 (38 8% )和DM组 (34 8% )。MS组CC型颈动脉内膜厚度 (IMT)和斑块指数明显高于CT TT型 (内膜 :0 84mm± 0 3mm比 0 6 6mm± 0 19mm ;斑块指数 :2 19± 1 2 1比 1 6 6± 1 36 ,P <0 0 5 ) ,EH组和DM组CC型斑块指数明显高于CT TT型(EH :1 5 5± 1 2 3比 1 2 9± 0 92 ;DM :1 5 7± 1 2比 1 18± 0 85 ,P <0 0 5 ) ,MS组CC型斑块指数明显高于EH和DM组 (P <0 0 1) ,MS组CC型内膜较DM和EH组明显增厚 (P <0 0 5或P <0 0 1)。MS组CC型收缩压和脉压明显高于CT TT型 [收缩压 :15     

心肌梗死和脑梗死病人载脂蛋白a五核苷酸重复序列基因多态性及与血浆脂蛋白(a)水平的关系

目的　探讨载脂蛋白apo(a)五核苷酸重复序列 (PNTR)基因多态性在心肌梗死、脑梗死病人中的分布情况及特点 ,分析其与血浆脂蛋白 (a) [Lp(a) ]水平的关系。方法　采用聚合酶链反应结合非变性聚丙烯酰胺凝胶电泳法检测了 4 38例心肌梗死病人及 2 18例对照 (冠脉造影阴性 )和 80 9例脑梗死病人 (头颅CT检查证实 )及 1817例非脑卒中者对照的apo(a)PNTR基因多态性 ,采用酶联免疫吸附法检测其血浆Lp(a)的水平。结果　每组人群apo(a)PNTR共检出 8种等位基因 ,2 9种基因型 ,等位基因和基因型分别以 8和 8/ 8最为常见。脑梗死组小片段PNTR4 7频率明显增多 (P <0 0 5 ) ,心肌梗死组 5 / 8基因型频率显著高于对照组 (P <0 0 5 )。心肌梗死组和脑梗死组的血浆Lp(a)浓度均明显高于对照组 (P <0 0 0 1) ,且与apo(a)PNTR基因多态性呈明显的负相关 (P <0 0 1) ,在对照组均未发现这种关联。Logistic回归结果显示 :血浆Lp(a) >30 0mg/L者 ,心肌梗死的危险性增加 (OR值为2 4 ,95 %可信限 1 6 30 3 5 94 ) ,脑梗死的危险性增加 (OR值为 1 6 ,95 %可信限 1 0 13 2 0 2 1) ;apo(a)PNTR小片断重复与与脑梗死的发病有关 (OR值为 1 4 ,95 %可信限 1 0 4 0 1 910 ) ,而与心肌梗死无明显相关 (P >0 0 5 )。结论　血浆Lp(a)     

藏族原发性高血压的遗传学研究

目的　探讨遗传因素在藏族原发性高血压 (EH)发病中的作用 ,以及血管紧张素Ⅱ的惟一前体物血管紧张素原 (AGT)基因变异是否参与EH发病。方法　以藏族 35 3例EH患者和 317名正常血压对照者为对象进行病例 对照相关研究。根据相似家系结构的指示对照和指示病例 1∶1配比分析 ,按Falconer公式计算藏族EH的遗传度。以聚合酶链反应 (PCR)和PCR产物的限制性片段长度多态性分析方法 ,分析AGT基因M2 35T多态性和 5′调控区 6A→G变异与藏族EH遗传易感的相关性。结果　 (1)藏族EH先证者 (指示病例 )一级亲属受累率为 43.3% ,EH遗传度为 77.2 %± 13 3%。(2 )EH患者血浆肾素活性 (μg·L-1·h-1)为 1.95± 0 .11,血管紧张素Ⅱ水平 (ng/L)为 72 .6± 4.6 ,均明显高于对照组 (分别为 1.5 9± 0 .11和 5 1.7± 4.6 ,P <0 .0 5 )。 (3)EH组AGT基因 5′调控区 6G等位基因频率 (0 .36 )明显高于对照组 (0 .2 7) (χ2 =9.35 ,P <0 .0 1) ,并与血管紧张素Ⅱ水平呈弱相关 ,而M2 35T多态性与EH易感无明显相关 (P >0 .0 5 )。结论　遗传因素在藏族EH发病中起重要作用 ,AGT基因可能是其重要易感基因之一     

Role of Coagulation Factor Ⅶ in Pathogenesis of Ischemic Heart Disease

Ischemic heart disease (IHD) is a serious condition and its incidence and mortality are high and increase steadily over the past years. In recent years, researches showed that the activation of extrinsic coagulation path-way, which mainly involves FⅦ, might play an impor-tant role in thrombokinesis, and FⅦ seemed to be an independent risk factor for IHD[1]. This study was de-signed to explore the role of FⅦ activation in throm-bogenesis of IHD and provide information for early di-agnosi…     

TP53基因多态与中国人群结直肠癌遗传易感性的相关性

目的探讨TP53基因C-8343G、C-1863T及第72密码子（CGC／CCC,其编码氨基酸分别为精氨酸R和脯氨酸P,R72P）单核苷酸多态（SNP）与中国人群结直肠癌（CRC）遗传易感性的关系。方法采用TaqMan和聚合酶链反应-限制性片段长度多态方法,检测345例CRC患者与670名对照SNP的基因型分布及差异。结果C-8343G和C-1863T基因型分布在CRC、对照两组人群间差异无统计学意义（P〉0．05）。R72P在两组人群中的基因型及等位基因分布差异有统计学意义（P〈0．01）。与RR纯合子相比,RP杂合子和PP纯合子的CRC风险分别增加至1．60倍（95％CI=1．17～2．18,P〈0．01）和2．37倍（95％CI=1．61～3．47,P〈0．01）。饮酒可进一步增加R72P多态的CRC风险效应：以RR饮酒者为参照,RP和PP饮酒者的CRC风险分别为3．01倍（95％CI=1．48～6．12）和4．71倍（95％CI=1．90～11．68）。结论TP53基因C-8343G和C-1863T多态与CRC风险无关;R72P多态增加中国人群,特别是饮酒人群的CRC发病风险。     

G蛋白β3亚单位C825T与高血压、胰岛素抵抗及肥胖的关联

目的　分析GNB3 基因C82 5T多态位点与原发性高血压、胰岛素抵抗和肥胖的关系。方法　对大庆地区 187个高血压家系和 189个非高血压家系的第一代子女进行空腹血糖、空腹胰岛素、血脂和纤维蛋白原等指标的测定 ,用聚合酶链反应 (PCR)扩增和酶切方法检测GNB3 C82 5T多态性 ,以多因素分析探讨各基因型与血压、胰岛素抵抗的关系。结果　 (1)高血压家族史阳性组CT/TT基因型频率高于高血压家族史阴性组 (0 78∶0 6 9,P =0 0 6 )。 (2 )调整年龄、性别影响后 ,CT/TT基因型胰岛素敏感性显著低于CC基因型 ,血压、体重指数显著高于CC基因型。 (3)相关分析显示 ,CT和TT基因型组中 ,胰岛素敏感性与收缩压水平负相关 (r=- 0 35 19,P =0 0 0 0 1) ,CC基因型组则相关不显著 (r=- 0 0 0 5 5 ,P =0 93)。按胰岛素敏感指数中值将其分为两组后 ,胰岛素敏感性较差组中 ,CT和TT基因型者收缩压明显高于CC基因型者 (14 6mmHg± 1 84mmHgvs 132mmHg±5 19mmHg ,P <0 0 5 ) ;胰岛素敏感性较好组中 ,两者血压无显著差异。 (4 )无高血压家族史的第一代子女 ,CT和TT基因型组胰岛素敏感性也与收缩压呈负相关 (r=- 0 4 86 4 ,P =0 0 0 1) ,CC基因型组二者相关不显著。结论　GNB3 C82 5T基因型与胰岛素敏感性、血压水平及体