Associations between CYP11B2 gene polymorphisms and the response to angiotensin-converting enzyme inhibitors

OBJECTIVE: Our objective was to investigate the association between the -344C/T or A6547G polymorphism of the aldosterone synthase gene and the blood pressure response to angiotensin-converting enzyme inhibitors in a hypertensive cohort. METHODS: After a 2-week single-blind placebo run-in period, either benazepril or imidapril was administered for 6 weeks to 509 patients with mild to moderate essential hypertension. Polymerase chain reaction combined with restriction enzyme digestion was used to detect the 2 polymorphisms. The achieved changes in systolic and diastolic blood pressure were analyzed for their association with genotypes at the aldosterone synthase gene loci. RESULTS: Regarding the -344C/T polymorphism, we observed the CC genotype in 53 patients (10.4%), the CT genotype in 204 (40.1%), and the TT genotype in 252 (49.5%). After 6 weeks of treatment, the reductions in diastolic blood pressure were significantly greater in patients carrying the TT or CT genotype compared with those carrying the CC genotype (9.1+/-7.0 mm Hg or 8.9+/-7.0 mm Hg versus 5.1+/-7.3 mm Hg, respectively; P=.001, ANOVA). Regarding the A6547G polymorphism, we observed the AA genotype in 19 patients (3.7%), the AG genotype in 184 (36.2%), and the GG genotype in 306 (60.1%). There were no significant differences in the blood pressure reductions after treatment among the 3 genotype groups, and there was no interaction between it and the -344C/T polymorphism. Stepwise multiple regression analysis showed that the significant predictors of diastolic blood pressure reduction at 6 weeks were baseline diastolic blood pressure (P<.001), -344C/T genotype (P=.007), and sex (P=.033). CONCLUSIONS: The -344C/T variant, but not the A6547G variant, of the aldosterone synthase gene may be a determinant of the blood pressure response to angiotensin-converting enzyme inhibitors in hypertensive patients.     

Angiotensin II type 1 receptor gene polymorphism and essential hypertension in Serbian population

Essential hypertension is considered to be a multifactorial trait resulting from the combined influence of environmental and genetic determinants. Due to the controversial results about the role of the ATR1 gene locus in hypertension and understanding that ethnic origin should be carefully considered in studying the association between gene polymorphism and disease etiology, we investigated the role of A1166C polymorphism in Serbian hypertensives. A total of 298 subjects, 100 hypertensive and 198 normotensive, age- and sex-matched controls, were included in this study. All subjects were genotyped for the A1166C polymorphism in ATR1 gene using allele-specific PCR-based technique. There were significant differences in both allele and genotype frequencies between hypertensive and normotensive male subjects (p<0.05). There is significant association between hypertension and CC genotype (CC vs. AC+AA OR=2.56, p=0.04) in the males only. These results suggest that a genetic variant of the ATR1 gene locus influences the risk of essential hypertension in the sex-specific manner in the Serbian population.     

血管紧张素原基因多态与原发性高血压合并脑梗死的相关性

目的：分析中国汉族人群血管紧张素原（AGT）基因M235T多态与原发性高血压合并脑梗死的关系。方法：应用PCR-直接测序法在150例单纯原发性高血压、135例原发性高血压合并脑梗死及150例健康对照者中，对M235T多态进行基因分型和统计分析。结果：单纯原发性高血压组与健康对照组相比，M235T多态的基因型和等位基因分布无显著差异。原发性高血压合并脑梗死组的基因型分布（TT=8，CT=50，CC=77）分别与单纯原发性高血压组（TT=19，CT=65，CC=66，X^2=6．513，P=0．039）和健康对照组（TT=26，CT=60，CC=64，X^2=10．878，P=0．004）相比，均有显著差异。原发性高血压合并脑梗死组的C等位基因频率显著高于健康对照组（0．756 vs 0．627，X^2=10．992，P=0．001）和单纯原发性高血压组（0．756 vs 0．657，X^2=6．662，P=0．010）。结论：中国汉族人群中，AGT基因M235T多态可能是原发性高血压合并脑梗死发病的遗传危险因素。     

白细胞介素-6基因-572G/C多态性对急性冠状动脉综合征患者血浆高敏C反应蛋白的影响

目的研究白细胞介素-6（IL-6）基因-572G／C多态性对急性冠状动脉综合征患者血浆高敏C反应蛋白（hs-CRP）浓度的影响。方法采用聚合酶链反应结合限制性内切酶片段长度多态分析方法（PCR-RFLP）检测228例急性冠状动脉综合征患者的IL-6基因-572G／C多态性，用免疫比浊法测定hs-CRP浓度。结果①ST段抬高急性心肌梗死（STEMI）组hs—CRP水平明显高于非ST段抬高急性冠脉综合征（NSTEACS）组，差异有统计学意义（P〈0．05）。②IL-6基因-572G／C多态性的基因型频率：CC42．54％、GC46．92％、GG10．52％；等住基因频率：C66．01％、T33．99％。③在STEMI组中，基因型CC组hs-CRP浓度较基因型GG＋GC组高，差异有统计学意义（P〈0．05）。多因素线性回归分析结果仍显示基因型CC携带者的血浆hs-CRP水平较携带G等住基因者高（P〈0．05）。在NSTEACS组及总人群中，不同基因型组hs—CRP比较差异无统计学意义（P〉0．05）。结论IL-6基因-572G／C多态性对急性冠状动脉综合征患者血浆hs-CRP水平无影响。在STEMI患者中，基因型CC携带者的血浆hs-CRP水平较携带G等住基因者高，提示IL-6基因-572G／C多态性在较高的炎症反应状态下，会对hs-CRP的表达产生影响。     

Association of the C-344T polymorphism of CYP11B2 gene with essential hypertension in Hani and Yi minorities of China

BACKGROUND: Aldosterone synthase (CYP11B2) is a key enzyme in the biosynthesis of aldosterone. Recently, a C-344T polymorphism in the promoter region of the CYP11B2 gene has been reported to be in association with high blood pressure. We investigated the association between this polymorphism and essential hypertension in Hani (n=305 individuals) and Yi (n=233 individuals) minorities of China. METHODS: CYP11B2 genotyping with polymerase chain reaction-restriction fragment length polymorphism was performed in 267 normotensive subjects and 271 essential hypertensive subjects. At the same time, the T(-344)C polymorphism detection in 33 subjects was also performed by sequencing. RESULT: The frequency of CYP11B2 C-344T genotype in normotensive controls and essential hypertensive cohort in Hani population were TT: 0.729 vs. 0.610; CT + CC: 0.271 vs. 0.390, respectively. The frequency of CYP11B2 C-344T genotype in normotensive controls and essential hypertensive cohort in Yi population were TT: 0.612 vs. 0.475; CT + CC: 0.388 vs. 0.525, respectively. The frequency of CC + CT genotype in the essential hypertensive group was significantly higher than that in the normotensive controls in both Hani and Yi populations (P<0.05). CONCLUSION: The -344C allele of the CYP11B2 may play a role in genetic predisposition to developing essential hypertension in Hani and Yi minorities of China.     

A variant 2677A allele of the MDR1 gene affects fexofenadine disposition

BACKGROUND AND OBJECTIVES: There have been considerable disagreements regarding the influence of MDR1 (ABCB1) polymorphisms on the disposition of P-glycoprotein (P-gp) substrates. We speculated that the unknown function of the A allele of exon 21 G2677T/A (Ala893Ser/Thr) provides one of the reasons for the contradictory results. This study was performed to clarify the effects of major MDR1 gene polymorphisms, including a variant A allele in exon 21, on fexofenadine pharmacokinetics. METHODS: We investigated the occurrence of 3 high-frequency single-nucleotide polymorphisms (SNPs) in exons 12 (C1236T), 21 (G2677T/A), and 26 (C3435T) of the MDR1 gene in 232 healthy Koreans, using a polymerase chain reaction-restriction fragment length polymorphism method, and performed haplotype analysis on these 3 SNPs. A single oral dose of 180 mg fexofenadine hydrochloride was administered to 33 healthy Korean male volunteers, who were divided into 6 groups based on the MDR1 genotype for the G2677T/A polymorphism in exon 21 and the C3435T polymorphism in exon 26. RESULTS: A strong linkage disequilibrium was observed among the 3 SNPs. The frequencies of the 4 major haplotypes, 1236C-2677A-3435C, C-G-C, T-G-C, and T-T-T, were 16.4%, 18.6%, 21.6%, and 32.2%, respectively. Fexofenadine disposition varied considerably among the groups. In the 2677AA/3435CC genotype group (n=3), the values of area under the concentration-time curve from time 0 to 24 hours [AUC(0-24)] were significantly lower (P=.014) than those of the other 5 genotype groups (GG/CC, GT/CT, TT/TT, GA/CC, and TA/CT). As compared with the 2677GG/3435CC subjects, the AUC(0-24) values were 17% lower in the 2677AA/3435CC subjects and 47% higher in the 2677TT/3435TT subjects (GG/CC versus AA/CC versus TT/TT, 4017 +/- 1137 ng . h/mL versus 3315 +/- 958 ng . h/mL versus 5934 +/- 2,064 ng . h/mL; P=.018). By stratification for genotypes at position 3435, homozygous 3435TT subjects were found to have significantly higher AUC(0-24) (P=.024) and maximum plasma concentration (P=.040) values than CC subjects [AUC(0-24), 5934 +/- 2064 ng . h/mL versus 3998 +/- 1241 ng . h/mL; maximum plasma concentration, 958 +/- 408 ng/mL versus 673 +/- 242 ng/mL]. CONCLUSIONS: The plasma concentrations of fexofenadine after a single oral administration were lower in 2677AA/3435CC subjects than in subjects with the other 5 genotype combinations of the SNPs of G2677T/A and C3435T. These findings confirm the importance of analyzing MDR1 haplotypes and provide a plausible explanation for the conflicting results regarding the effect of MDR1 polymorphisms on the disposition of P-gp substrates.     

Interleukin-6 gene promoter -174G/C polymorphism and insulin resistance: a pilot study.

BACKGROUND: The aim of this pilot study was to evaluate the relationship between interleukin-6 promoter -174G/C (IL-6 -174G/C) polymorphism and insulin resistance (IR) in obese patients with coronary heart disease (CHD). METHODS: Twenty obese male patients with CHD were selected from a larger database of patients (n=606). IL-6 -174G/C genotype was previously analysed and only homozygotes with the CC genotype (n=10) or GG genotype (n=10) were selected. IR was measured using the homeostasis model assessment for IR (HOMA-IR) method. RESULTS: Differences in age, body mass index, total cholesterol, low-density lipoprotein cholesterol, high-density lipoprotein cholesterol (HDL-C), triglyceride (TG), hypertension, IL-6, C-reactive protein and HOMA-IR were not significant between the genotypes (p>0.05), but analysis of a homogeneity-of-slopes model showed that genotype had a significant influence on HOMA-IR (p=0.037), and the interaction between genotype and HDL-C had a pronounced tendency to affect HOMA-IR (p=0.058). Using multiple regression analysis, we found that HDL-C had a significant effect on HOMA-IR (p=0.023), and TG had a tendency to affect HOMA-IR (p=0.066) only in the CC genotype. CONCLUSIONS: Our data show that IL-6 -174G/C polymorphism may have a significant effect on IR. A comparison between the effects of various cardiovascular risk factors showed that HDL-C may have a significant effect on HOMA-IR in the CC genotype but not in the GG genotype. Further research is needed to test the preliminary results.     

PARP1单核苷酸多态性对晚期胃癌奥沙利铂化疗反应及预后的影响

目的 探讨多聚腺苷二磷酸核糖聚合酶(PARP-1)单核苷酸多态性(SNP)与晚期胃癌患者化疗反应及生存时间的关联性.方法 选择2016年5月至2019年12月于苏州科技城医院肿瘤内科收治的161例晚期胃癌患者,给予奥沙利铂联合替吉奥化疗,化疗前抽空腹静脉血5 ml用于提取基因组DNA.TaqMan探针法鉴别PARP1基...     

Association of angiotensin II type 1 receptor gene polymorphism with carotid atherosclerosis.

BACKGROUND: Polymorphisms of the angiotensin II type 1 receptor (AGTR1) gene are associated with essential hypertension and cardiovascular disease, but the correlation between AGTR1 A1166C polymorphism and carotid intima-media thickness (IMT) remains unclear. We sought to demonstrate correlation between AGTR1 gene polymorphism and carotid atherosclerosis in a Chinese population. METHOD: A total of 150 patients diagnosed with essential hypertension were included in this study. The AGTR1 A1166C polymorphism was detected by restriction analysis of the polymerase chain reaction product with Ddel digestion. Carotid IMT was measured by B-mode ultrasonography. RESULTS: The AC genotype frequency and the C1166 allele frequency of the AGTR1 gene in essential hypertensive patients were significantly higher than in controls (22.00% vs. 6.00% for AC, p < 0.01; 18.67% vs. 8.00% for the C allele, p < 0.05). Hypertensive subjects with the AC genotype had increased carotid artery IMT and IMT/D (common carotid artery diameter) ratio compared with the AA genotype (IMT 1.14 +/- 0.39 vs. 0.88 +/- 0.16, p < 0.05; IMT/D 14.08 +/- 2.88 vs. 10.51 +/- 1.94, p < 0.01). CONCLUSION: These results suggest that the AGTR1 A1166C polymorphism is associated with essential hypertension and carotid atherosclerosis in a Chinese population.     

IL-6基因-572C／G多态性对2型糖尿病患者血清IL-6水平的影响

【目的】探讨白介素-6（IL-6）基因-572C／G多态性对2型糖尿病患者血清IL-6水平的影响。【方法】应用聚合酶链反应-限制性片段长度多态性方法检测358例初发2型糖尿病患者IL-6基因-572C／G多态性,用ELISA方法检测不同基因型患者的IL-6水平【结果】2型糖尿病患者IL-6基因-572CC,CG,GG基因型人数分别为212,129,17;血清IL-6水平分别为（61．32±16．98）pg／mL,（64．98±15．19）pg／mL和（92．18±25．36）pg／mL,血清IL-6水平在CC,CG基因型间差异无显著性,两种基因型与GG基因型相比,血清IL-6水平差异均有显著性（P〈0．05）。【结论]IL-6基因572C／G多态性可能具有功能性,572GG基因型分泌IL-6能力可能较CC及CG基因型强,IL-6基因572GG基因型可能是2型糖尿病的危险因素之一。     

T6092C polymorphism of SLC22A12 gene is associated with serum uric acid concentrations in Korean male subjects

BACKGROUND AND OBJECT: It has been suggested that the SLC22A12 gene polymorphism may be involved in the mechanism of renal urate handling. The purpose of the current study was to identify the effect of the T6092C polymorphism of the SLC22A12 gene on serum uric acid concentrations in the Korean population. METHODS: We examined 196 healthy subjects (141 males and 55 females) in this study. Among the SLC22A12 gene polymorphism, the T6092C polymorphism in intron 4 at rs1529909 of the SLC22A12 gene was evaluated using denaturing high performance liquid chromatography analysis. Diverse clinical parameters of renal urate handling derived from fasting blood and urine samples, such as the serum uric acid concentration and the fractional excretion of uric acid (FEUA), were also assessed for identification of the relationship between genotypic variations. Statistical analysis was performed using the chi-square test, ANOVA test, and the Pearson correlation coefficient analysis to determine which indicators involved serum uric acid. And the significance of these indicators was then confirmed by multivariate regression analysis. RESULTS: The prevalence of the T6092C polymorphism (TT, TC, and CC) was 58.2%, 37.2%, and 4.6%, respectively. Only the concentration of serum uric acid and the FEUA in male subjects differed significantly among each genotype (p=0.038 and p=0.013, respectively). Serum uric acid concentrations in male subjects with the TT genotype were increased compared with those with the TC as well as the TC or CC genotypes (6.2+/-1.2 vs. 5.7+/-1.3, p=0.039 and 6.2+/-1.2 vs. 5.6+/-1.3, p=0.019, respectively), whereas there was no significant difference between CC genotype and TT genotype in serum uric acid (p=0.066). No significant difference between clinical indicators and genotypes existed in females. The T6092C polymorphism of the SLC22A12 gene, serum creatinine, and the FEUA were significantly associated with the concentration of serum uric acid. CONCLUSION: This study showed that the T6092C polymorphism of the SLC22A12 gene may be involved in renal urate handling and the concentration of serum uric acid, in male subjects.     

血管紧张素Ⅱ1型受体A1166C多态性与高血压左心室肥厚的相关性研究

目的 探讨血管紧张素Ⅱ1型受体（AT1R）A1166C多态性与高血压及高血压左心室肥厚的关系。方法 选取249例原发性高血压患者进行超声心动图检查和AT1RA1166C多态性测定。结果 AA基因型患者收缩压较AC＋CC基因型高，差异具有显著性（P=0．006）；舒张压具有同样趋势（P=0．342）。高血压人群中，AA基因型与AC＋CC基因型相比，左心室内径、室间隔厚度、左心室后壁厚度、左心室质量及左心室质量指数差异均无显著性（P〉0．05）。结论 中国原发性高血压人群中，AT1R基因A1166C多态性AA基因型可能与血压升高有关；可能与中国人群原发性高血压左心室肥厚无关。     

Association of NAD(P)H oxidase p22 phox gene variation with advanced carotid atherosclerosis in Japanese type 2 diabetes

OBJECTIVE: To evaluate the association between the C242T polymorphism of the p22 phox gene, an essential component of NAD(P)H oxidase in the vasculature, with intima-media thickness (IMT) of the carotid artery and risk factors for atherosclerosis in type 2 diabetic subjects. RESEARCH DESIGN AND METHODS: C242T polymorphism of the p22 phox gene was detected by polymerase chain reaction-restriction fragment-length polymorphism in 200 Japanese type 2 diabetic subjects and 215 nondiabetic subjects. We examined the association with this mutation and carotid atherosclerosis as well as the patients' clinical characteristics and the level of 8-hydroxy-2'deoxyguanosine (8-OHdG) as an index of oxidative DNA damage. RESULTS: The diabetic subjects with the TC+TT genotypes displayed a significantly lower average IMT (1.13 +/- 0.31 vs. 1.31 +/- 0.34 mm; P = 0.0099) and a not significantly lower serum 8-OHdG level than those with the CC genotype, despite no difference in the risk factors. Stepwise multiple regression analysis showed that the risk factors for increased IMT in the diabetic subjects were systolic blood pressure (P = 0.0042) and p22 phox CC genotype (P = 0.0151). In nondiabetic subjects, the average IMT of the TC+TT group was not different from that of the CC group (0.85 +/- 0.14 vs. 0.94 +/- 0.30 mm, P = 0.417). Fasting plasma insulin concentration (41.4 +/- 15.6 vs. 64.2 +/- 59.4 pmol/l, P = 0.0098) and insulin resistance index of homeostasis model assessment (HOMA-R) (1.58 +/- 0.66 vs. 2.60 +/- 2.56, P = 0.0066) were significantly lower in the TC+TT group than in the CC group. CONCLUSIONS: These results show that the C242T mutation in the p22 phox gene is associated with progression of asymptomatic atherosclerosis in the subjects with type 2 diabetes and is also associated with insulin resistance in nondiabetic subjects.     

Influence of angiotensin II type 1 receptor polymorphism on hypertension in patients with hypercholesterolemia

Essential hypertension results from the combined influence of environmental and genetic factors. The relationship between angiotensin II type 1 receptor (AT(1)) A-C(1166) polymorphism and essential hypertension is controversial. Because it is accepted that high concentration of serum cholesterol is one of risk factors of atherosclerosis, we investigated the influence of the AT(1) A-C(1166) polymorphism on hypertension in patients with hypercholesterolemia. A total of 131 hypertensive, 97 borderline, and 175 normotensive subjects were enrolled in this study. We selected hypercholesterolemic subjects on the condition that their serum concentration of total cholesterol was >220 mg/dl, and obtained 55 hypertensive, 24 borderline, and 52 normotensive subjects with hypercholesterolemia. There were no significant differences in the genotype nor allele frequency between hypertensive and normotensive subjects in the overall population. However, the presence of the C allele of the AT(1) gene has a tendency to increase the value of systolic blood pressure not only in subjects with hypercholesterolemia but also in the overall population. Furthermore, we found a significant relationship between the AT(1) polymorphism and hypertension in subjects with hypercholesterolemia; i.e., the frequency of the C allele of the AT(1) gene was significantly higher in hypertensives than in normotensives (P<0.005). These results suggested that high concentration of total cholesterol was an important risk factor to the occurrence of essential hypertension for patients who carried the C allele of the AT(1) gene.     

血管紧张素原基因部分多态性指标与原发性高血压的发病风险:社区病例对照

背景:血管紧张素原基因是第一个被发现的原发性高血压候选基因,T174M5和M235T多态均位于AGT基因第二外显子,且存在连锁不平衡。启动子区域A-6G和G-217A位点多态对其基因表达起重要调节作用,且血管紧张素原基因的表达产物与血压水平的维持密切相关。目的:探讨血管紧张素原基因A-6G,T174M和G-217A位点多态性与中国汉族人群原发性高血压发病风险的关系。设计:整群抽样,病例-对照分析。单位:南京医科大学第一附属医院老年医学科与心血管科,国家人类基因组南方研究中心,江苏省东台市人民医院心血管科。对象:实验于2005-09/10在江苏省东台市农村完成。①263例实验对象均来自江苏省盐城市东台县农村,其中原发性高血压组177例为未经药物治疗的原发性高血压患者,高血压的诊断参照1999年WHO/ISH高血压诊断标准(收缩压≥140mmHg和/或舒张压≥90mmHg);正常对照组86例。②纳入标准:实验对象为汉族;长期居住本地非外来人口;能清楚回答问题;经病史、临床症状、体征及辅助检查确诊;统一问卷面访调查资料完整。③排除标准:原发性高血压组排除继发性高血压,正常对照组排除高血压家族史,同时两组人群均排除肝、肾慢性疾病和糖尿病。方法:采集外周静脉血3mL,用FlexiGeneDNAKit(250)提取人外周血中DNA。应用primer3软件进行引物设计,并排除引物序列中的多态位点。多重聚合酶链反应扩增后,取3μL反应产物用琼脂糖凝胶电泳检测扩增结果,扩增成功的聚合酶链反应产物用QIAquickPCRPurifica-tionKit纯化,纯化后的产物用DNaseⅠ片段化,片段化的酶切产物以脱氧核苷酸末端转移酶进行荧光素标记。每个单核苷酸多态各设计2条等位基因特异性探针和1条错配探针,芯片用OmniGridTM100点样仪制备,每个探针重复3次,形成3个阵列。杂交液95℃变性10min后,立即置于冰上冷切,取10μL杂交液加入到芯片矩阵上,50℃杂交2h,然后洗涤,甩干。GenePix4000B共聚焦激光扫描仪进行芯片扫描,利用GenePixPro提取得到每条探针的荧光信号强度值,通过计算每个单核苷酸多态的等位基因分数判断基因型。主要观察指标:①两组血管紧张素原基因各多态位点基因型分布频率的比较。②血管紧张素原基因A-6G和T174M位点多态性与原发性高血压发病风险的相关分析。③两组血管紧张素原基因A-6G,T174M和G-217A位点多态性对血压的影响。结果:按意向处理分析,263例实验对象均进入结果分析。①血管紧张素原基因A-6G位点AA,AG,GG基因型(P=0.014)以及A,G等位基因频率(P=0.004,OR=0.44)差异明显;T174M位点CC,CT,TT基因型(P=0.031)以及C,T等位基因频率(P=0.014,OR=0.55)差异有显著性意义;未发现G-217A位点GG,AG,AA基因型(P=0.722)以及G,A等位基因频率(P=0.403,OR=0.80)有明显差异。②携带A-6G多态AA基因型和T174M多态CC基因型的个体发生原发性高血压的风险分别减少57%(95%可信区间=0.23～0.82,P=0.010)和56%(95%可信区间=0.25～0.79,P=0.006)。③两组血管紧张素原基因A-6G,T174M和G-217A位点各基因型的收缩压、舒张压和平均动脉压的差异均无显著性意义(F=0.100～2.911,P均>0.05)。结论:血管紧张素原基因A-6G位点AA基因型和T174M位点CC基因型可能会减少中国汉族人群原发性高血压发病风险,未发现G-217A多态基因型与其有显著相关性。     

老年高血压病患者心房颤动易感性与C-反应蛋白-717A/G多态性的关系

目的探讨C-反应蛋白（CRP）-717A/G多态性与老年高血压病患者心房颤动易感性的关系。方法选择75例合并心房颤动（房颤组）及94例无心房颤动（对照组）的老年高血压病患者,聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法检测CRP-717A/G基因型,比较两组基因型及等位基因频率分布,以及各基因型对血脂参数、高敏C反应蛋白（hs-CRP）的影响。结果房颤组hs-CRP水平（P=0.000 0）及左心房直径（P=0.000 0）均显著高于对照组,房颤组AA基因型频率（P=0.025 3）及A等位基因频率也显著高于对照组（P=0.028 0）。无论是房颤组抑或对照组,均未发现CRP-717A/G多态性对各临床参数有影响。结论老年高血压病合并房颤患者hs-CRP水平显著升高,CRP-717 A等位基因与房颤易感性相关。     

中国人群脂联素基因启动子区-11377C/G位点多态性与2型糖尿病易感性的Meta 分析

目的 探讨中国人群脂联素基因启动子区-11377C/G位点多态性与2型糖尿病易感的相关性.方法 检索2011年11月前中国生物医学文献数据库(CBM)、中国期刊全文数据库(CNKI)、万方数据库、维普中文科技期刊数据库(VIP)及Medline、Cochrane Library、Embase、Springer、Ovid等数据库,收集有关中国人群脂联素基因-11377C/G多态性与2型糖尿病的相关性研究;评价纳入研究质量,提取有效数据,采用Review Manager5.0软件进行Meta分析.结果 共纳入12组研究中国人群脂联素基因启动子区-11377C/G位点多态性与2型糖尿病的相关性的病例-对照研究,2型糖尿病病例2 598例,对照4 508例.Meta分析发现,脂联素基因启动子区-11377C/G位点C/G多态性与2型糖尿病相关性中G等位基因与C等位基因[OR=1.14,95%CI(1.03,1.25),P=0.009]、基因型(CG+GG)与CC[OR=1.19,95%CI(1.06,1.35),P=0.004]、基因型CG与CC[OR=1.14,95%CI(1.00,1.29),P=0.05]、基因型GG与CC[OR=1.34,95%CI(1.06,1.71),P=0.02]均具有统计学意义差异.结论 中国人群脂联素基因启动子区-11377C/G位点多态性与2型糖尿病易感性存在相关性.     

CD40基因启动子区-1C／T多态性与早发急性心肌梗死的相关性研究

目的：研究我国湖北十堰地区汉族人群CD40基因启动子区-1C／T多态性与早发急性心肌梗死（AMI）的相关性．方法：应用流式细胞仪俭测161例早发AMI患者和186名健康对照者的B淋巴细胞CD40表达水平；用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）检测CD40基因启动子区-1C／T多态性的基因型频率分布；应用酶联免疫吸附试验检测血清可溶性CD40配体（sCD40L）水平；应用微粒子增强透射免疫分析技术检测血清超敏C-反应蛋白（hs-CRP）水平？结果：早发AMI患者B淋巴细胞CD40表达水平高于对照组，且差异有统计学意义（平均荧光强度为6．81±2．16比2．08±1．19．P〈0．01）：而其血清sCD40L及hs-CRP也均较对照组升高，差异有统计学意义（P均〈0．01）。基因型分布在早发AMI组（CC=34.2％、CT=54．7％、TT=11．1％）与对照组（CC=23．7％、CT=56．9％、TT：19．4％）的差异有统计学意义（P〈0．05）：早发AMI组C等位基因频率高于对照组，差异有统计学意义（61．5％比52．2％，OR=L465，95％CI：1．082-1．983，P〈0．05）；B淋巴细胞CD40表达水平在CC、CT、TT各基因型间差异也有统计学意义（P〈0．05）。结论：CD40基因启动子区-1C／T多态性可能与我国湖北十堰地区汉族人群早发AMI的发生有关。     

Angiotensin converting enzyme DD genotype is associated with hypertensive crisis

OBJECTIVE: The genetic background of hypertensive crisis is unknown. We examined the association of polymorphisms in genes involved in the renin-angiotensin-aldosterone-system with hypertensive crisis. DESIGN: Population-based case-control study. SETTING: Emergency department at a tertiary care university hospital. PATIENTS: A total of 182 patients with essential hypertension who were admitted to an emergency department for treatment of hypertensive crisis and 182 age- and sex-matched healthy individuals. INTERVENTIONS: None. MEASUREMENTS: Analysis of polymorphisms in genes coding for angiotensinogen (AJT 704T-->C), angiotensin II receptor 1 (AGTR1 1166A-->C), renin (REN 2646G-->A), renin-binding protein (RENBP 61T-->C), alpha-adducin (ADD1 1378G-->T), beta-2-adrenergic receptor (ADRB2 46A-->G, 79C-->G), and angiotensin I converting enzyme (ACE I/D) was performed by polymerase chain reaction and restriction fragment length polymorphism analysis.MAIN RESULTS Among patients, the ACE I/D polymorphism showed a deviation from Hardy-Weinberg equilibrium (p =.01). In controls, all polymorphisms were in the Hardy-Weinberg equilibrium. The frequency of the DD genotype was increased in patients (n = 70, 38.5%) vs. controls (n = 51; 28.0%;p =.03; odds ratio, 1.61; 95% confidence interval, 1.03-2.50), which was due to the DD genotype in 40 male patients (44%) vs. 23 in male controls (25.3%;p =.004; odds ratio, 3.48; 95% confidence interval, 1.47-8.30). There were no differences in genotype distributions among other polymorphisms. CONCLUSION: We demonstrate a possible association of the DD genotype with hypertensive crisis in men.     

醛固酮合酶基因多态性与原发性高血压相关性研究

目的探讨醛固酮合酶基因（CYP11B2）-344T/C多态性与原发性高血压的相关性。方法采用关联分析,收集湖南地区汉族男性原发性高血压患者100例,正常对照100名。应用聚合酶链反应-限制性片段长度多态性分析（PCR-RFLP）对2组对象的CYP11B2-344T/C多态进行分析。结果2组对象CYP11B2基因型（TT型、CT型和CC型）的频率差异无统计学意义（χ^2=0.34,P〉0.05）,等位基因的频率差异也无统计学意义（χ^2=0.28,P〉0.05）,但各组内等位基因T的频率（原发性高血压组：67.67%）高于等位基因C（32.33%）;对照组T69.67%高于C 30.33%。结论多基因联合分析显示,在男性患者中,CYP11B2-344T/C多态性与原发性高血压无明显相关,但CYP11B2-344各组内等位基因T的频率高于等位基因C。