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。     

E-选择素基因rs3917422A和rs5355C位点多态性与哈尼族原发性高血压相关性研究

目的探讨E-选择素基因rs3917422A＼C和rs5355C＼T位点多态性与哈尼族原发性高血压的关系。方法采用PCR测序技术,对云南哈尼族172例原发性高血压患者和133例正常对照的B选择素基因rs3917422A、C和rs5355C＼T的错义突变进行检测。结果在哈尼族中未发现有rs3917422A多态存在,发现rs5355C基因有多态存在。rs5355C等位基因频率在原发性高血压组中为10．5％,正常对照组中为13．2％,两组之间无显著性差异（P=0．311,P〉0．05）。结论哈尼族中E-选择素基因无rs3917422A多态基因存在,而多态性基因rs5355C基因频率分布是原发性高血压组低与正常对照组,其多态性与哈尼族原发性高血压成负相关,两组之间无显著性差异。     

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。     

EMILIN1 CYP11B2基因多态性与原发性高血压相关性研究

目的 研究 EMILIN1、CYP11B2基因多态性与原发性高血压的相关性。方法 回顾性分析该院2010年3月至2012年3月期间收治的100例原发性高血压患者,将其作为临床研究对象（患者组）,另选取血压正常的健康自愿者100例作为健康对照组,进行基因多态性的对比研究。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法 分别检测两组EMILIN1基因SNP位点和CYP11B2基因SNP位点的等位基因及基因型分布情况。结果 患者组患者EMILIN1基因rs2304682位点上的基因型与等位基因频率与健康对照组比较,差异有统计学意义（P＜0．05）,患者组CG基因型、G等位基因频率明显高于健康对照组,而CC基因型、C等位基因频率则比健康对照组低;CYP11B2基因多态性基因型及等位基因频率发现,患者组（CYP11B2）-344 T/C基因多态性中TT基因型、T基因频率明显高于健康对照组,而CT 基因型、C基因频率则低于健康对照组,差异均有统计学意义（P＜0．05）。结论 EMILIN1基因多态性可能与原发性高血压有一定的相关性,（CYP11B2）-344T/C位点上等位基因T的频率较高。     

Aldosterone synthase (CYP11B2)-344T/C polymorphism and renoprotective response to losartan treatment in diabetic nephropathy

OBJECTIVE: It has been suggested that an aldosterone synthase gene polymorphism (CYP11B2 -344T/C) is predictive of the blood pressure lowering effect of angiotensin II receptor blockers in essential hypertension. We investigated whether this polymorphism is predictive of reductions in blood pressure and albuminuria and preservation of glomerular filtration rate (GFR) during short-term and long-term treatment with losartan in 57 hypertensive type-1 diabetic patients with diabetic nephropathy. MATERIAL AND METHODS: After a 4-week washout period, patients received losartan (100 mg o.d.) and were followed for a mean follow-up of 36 months. At baseline, after 2 and 4 months, and every 6 months thereafter, GFR (51Cr-EDTA-clearance), albuminuria and 24-h blood pressure were determined. The CYP11B2 -344T/C polymorphism was determined by standard polymerase chain reaction (PCR). RESULTS: The TT, CT and CC genotypes were found in 28 %, 58 % and 14 % of patients, respectively. At baseline albuminuria and blood pressure did not differ between genotype groups. Plasma aldosterone levels (geometric mean (95 % CI)) were similar at baseline: 87 (60-125), 77 (53-112), and 89 (49-161) pg mL(-1) and during follow-up (not significant). After initiation of losartan treatment, comparable mean (SE) reductions in blood pressure and albuminuria were seen in patients with TT, CT and CC genotypes (p >0.6 between groups). After long-term follow-up, there was a tendency towards a difference in systolic blood pressure reduction (p = 0.07, one-way ANOVA), suggesting a poorer response in patients with the CC genotype. No significant difference in rate of decline in GFR (median (range)) was seen between groups (TT, CT, CC): 4.2 (-1.0 to 16.0), 3.2 (-1.6 to 13.8) and 2.6 (-0.1 to 11.0) mL min(-1)year(-1), respectively (p = 0.5). CONCLUSIONS: Compared to a previous smaller study of angiotensin II receptor blockade in essential hypertension, we could not confirm that CYP11B2 -344T/C genotypes contribute towards explaining the observed variability in response to treatment with angiotensin II receptor blockers, which could be due to lack of power.     

CYP11B2-344T/C基因多态性与2型糖尿病肾病的关系

目的:研究2型糖尿病(T2DM)患者CYP11B2-344T/C基因多态性与糖尿病肾病(DN)的相关性以及与DN不同分期的关系。方法:将145例T2DM患者分为DN组73例和糖尿病非肾病组(NDN组)72例,另选择52例门诊体验健康人为正常对照组(NC组)。应用聚合酶链反应-限制性内切酶片段长度多态性(PCR-RFLP)对以上197例观察对象进行基因型分析。结果:(1)DN患者存在CYP11B2-344T/C多态性,本研究197例观察对象中CYP11B2-344T/C多态性存在CC、CT、TT3种基因型,频率分别为12.7%、50.3%、37.1%;C、T等位基因频率分别为31.2%、68.8%。(2)DN组CYP11B2-344T/CT等位基因频率明显高于NC组(P<0.05)。(3)DN组CYP11B2-344T/C多态性CC、CT、TT3种基因型各临床指标均数比较差异无显著性(均P>0.05)。(4)DN组内微量白蛋白尿期、临床白蛋白尿期和肾功能不全期CC、TT、CT基因型频率和C、T等位基因频率差异均无显著性(均P>0.05)。(5)CYP11B2-344T/C基因型与DN无相关性(P>0.05)。(...     

原发性高血压患者醛固酮合酶基因多态性与血浆醛固酮水平的关系研究

目的 :探索武汉地区汉族高血压人群醛固酮合酶CYP11B2基因 3 44C/T多态性与血浆醛固酮 (pAldo)水平的相关性。方法 :应用PCR RELP技术对 10 6例武汉地区汉族高血压病人的CYP11B2基因 3 44C/T多态性进行分析 ,应用放射免疫法测定 10 6例武汉地区汉族高血压病人的血浆醛固酮水平。结果 :武汉地区汉族高血压人群CYP11B2基因 3 44C/T多态性以TT和CT为主要基因型 ,C等位基因较少见 ,其频率为 0 2 5。高血压患者血浆醛固酮水平在CYP11B2基因 3 44C/T的 3个不同基因型组中差异有显著性 (P <0 0 1)。结论 :武汉地区高血压人群的血浆醛固酮水平与CYP11B2基因 3 44C/T多态性相关 ,且高醛固酮水平与C等位基因相关。     

中国人醛固酮合成酶CYP11B2基因多态性与原发性高血压左室肥厚相关性的Meta分析

目的通过Meta分析评估醛固酮合成酶CYP11B2（-344C／T）基因多态性与原发性高血压左室肥厚之间的相关性。方法查阅1980年1月-2012年12月发表的有关CYP11B2基因多态性与中国汉族人群原发性高血压左室肥厚关系的病例对照研究文献,选择的数据库有中国期刊全文数据库、中国生物医学文献数据库、维普中文期刊数据、万方数据库及Pubmed。以左室肥厚组[LVH（＋）]和无左室肥厚组[LVH（-）]基因分布的OR值为统计量,应用RevMan 5．1软件对各研究结果进行异质性检验和数据合并。结果最终入选6篇病例对照研究文献。共人选原发性高血压患者1791例。LVH（＋）组与LVH（-）组CC／（TT＋TC）OR=1．21,95％CI（0．80,1．81）,P=-0．36;（TC＋CC）／TTOR=1．16,95％CI（0．68,1．98）,P=0．59;LVH（＋）组与LVH（-）组C等位基因／T等位基因频率OR=1．09,95％CI（0．78,1．54）,P=0．61。结论中国人的CYP11B2基因多态性与原发性高血压左室肥厚无关。     

Aldosterone synthase (CYP11B2)­344T/C polymorphism and renoprotective response to losartan treatment in diabetic nephropathy

Objective. It has been suggested that an aldosterone synthase gene polymorphism (CYP11B2 ­344T/C) is predictive of the blood pressure lowering effect of angiotensin II receptor blockers in essential hypertension. We investigated whether this polymorphism is predictive of reductions in blood pressure and albuminuria and preservation of glomerular filtration rate (GFR) during short‐term and long‐term treatment with losartan in 57 hypertensive type‐1 diabetic patients with diabetic nephropathy. Material and methods. After a 4‐week washout period, patients received losartan (100 mg o.d.) and were followed for a mean follow‐up of 36 months. At baseline, after 2 and 4 months, and every 6 months thereafter, GFR (⁵¹Cr‐EDTA‐clearance), albuminuria and 24‐h blood pressure were determined. The CYP11B2 ­344T/C polymorphism was determined by standard polymerase chain reaction (PCR). Results. The TT, CT and CC genotypes were found in 28 %, 58 % and 14 % of patients, respectively. At baseline albuminuria and blood pressure did not differ between genotype groups. Plasma aldosterone levels (geometric mean (95 % CI)) were similar at baseline: 87 (60–125), 77 (53–112), and 89 (49–161) pg mL^?1 and during follow‐up (not significant). After initiation of losartan treatment, comparable mean (SE) reductions in blood pressure and albuminuria were seen in patients with TT, CT and CC genotypes (p >0.6 between groups). After long‐term follow‐up, there was a tendency towards a difference in systolic blood pressure reduction (p = 0.07, one‐way ANOVA), suggesting a poorer response in patients with the CC genotype. No significant difference in rate of decline in GFR (median (range)) was seen between groups (TT, CT, CC): 4.2 (?1.0 to 16.0), 3.2 (?1.6 to 13.8) and 2.6 (?0.1 to 11.0) mL min^?1year^?1, respectively (p = 0.5). Conclusions. Compared to a previous smaller study of angiotensin II receptor blockade in essential hypertension, we could not confirm that CYP11B2 ­344T/C genotypes contribute towards explaining the observed variability in response to treatment with angiotensin II receptor blockers, which could be due to lack of power.     

醛固酮合成酶CYP11B2基因多态性与中国汉族人原发性高血压关系的系统分析

目的 Meta分析中国汉族人醛固酮合成酶CYP11B2基因多态性与原发性高血压关系。方法 查阅1980年1月至2006年7月发表的有关醛固酮合成酶CYP11B2基因多态性与原发性高血压关系的病例对照试验研究文献，选择的数据库有中国生物医学文献数据库（CBMdise）、中国学术期刊全文数据库（CAJ—CD）和Medline。以原发性高血压组和健康对照组基因分布的OR值为统计量，全面检索相关文献并剔除不符合要求的文献，排除发表偏倚的影响。应用RevMan4．2软件对各研究结果进行一致性检验和数据合并。最终入选5篇随机对照试验文献。结果 5．篇文献的病例对照试验一致性较好，原发性高血压组总计高血压患者1000例，对照组967例，原发性高血压组与对照组TT/（TC＋CC）OR值（95％可信区间）0．95（0．79，1．13），显著性检验Z值为0．60，P=0．55。T等住基因频率OR值为（95％可信区间）0．92（0．80，1．06），显著性检验Z值为1．17，P=0．24。结论 中国汉族人醛固酮合成酶CYP11B2基因多态性与原发性高血压无关。     

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.     

CYP17A1基因多态性与原发性高血压的相关性研究

目的探讨CYP17A1基因rs11191548位点多态性与原发性高血压关系。方法选取原发性高血压患者143例和健康体检者199例。应用Taq Man探针分析CYP17A1基因rs11191548位点多态性的基因型,并探讨其相关性,采用逐步Logistic回归分析,分析获得性因素对高血压的影响。结果经χ~2检验,2组间基因型分布差异有统计学意义(P0.05),2组间等位基因频率分布差异有统计学意义(P0.05)。TT和CT基因型较CC基因型对于患病具有较高风险,CC基因型的个体患高血压的风险分别是携带TT基因型的0.370倍,携带T等位基因的个体患高血压的风险是携带C等位基因的1.776倍。获得性因素中,空腹血糖、甘油三酯及年龄较高的人群具有更高的患病风险。结论 CYP17A1基因rs11191548多态性与原发性高血压发病可能相关,其中TT基因型及T等位基因的个体患高血压的风险升高,获得性因素对高血压的发病有显著影响。     

A Genetic Variant of the CD14 C-159T in Patients with Functional Dyspepsia (FD) in Japanese Subjects

Inflammatory changes in the gastric mucosa are commonly observed in Japanese patients with functional dyspepsia (FD). However, detailed data regarding the relationship between the genetic regulatory factors of inflammation and FD are not available. CD14 is an important mediator of the inflammatory response in the first line of host defense by recognition of Lipopolysaccharide (LPS). We aimed to investigate the association between CD14 promoter C-159T polymorphism and FD in a Japanese population. 108 patients with FD and 99 non-dyspeptic subjects enrolled in this study. Dyspeptic symptoms were divided according to Rome III criteria. CD14 gene C-159T polymorphism was determined by polymerase chain reaction-restriction fragment length polymorphism. In the non-dyspeptics, the CD14 genotype distribution was 28CC (28.3%), 51CT (51.5%), 21TT (21.2%). Meanwhile, the CD14 genotype distribution in FD was 31CC (28.4%), 56CT (51.4%), 22TT (20.2%). The genotype distribution was not significantly different. There was no significant difference between two groups in the genotype distribution. We did not found any association between CD14 genotypes and dyspeptic patients in different gender and Helicobacter pylori infection status. No significant association was also found between CD14 polymorphism and any of different subtypes of FD according to Rome III while there was a weak correlation between TT genotype and PDS in male subjects (TT vs others, OR = 3.18, 95% CI = 0.98-10.26, p = 0.06). In conclusion, our results suggest that CD14 polymorphism is unlikely to associate with susceptibility of dyspeptic symptoms. The role of inflammation related-gene polymorphisms to the development of dyspepsia needs to further evaluation.     

The hepatic lipase gene C-480T polymorphism in the development of early coronary atherosclerosis: the Helsinki Sudden Death Study

BACKGROUND: The T allele of the hepatic lipase (HL) C-480T polymorphism was previously found to be associated with lower post-heparin plasma HL activity, atherosclerosis and risk of coronary artery disease. We studied the association of HL C-480T polymorphism with the extent of atherosclerosis at vessel-wall level in an autopsy series of middle-aged men. MATERIALS AND METHODS: An autopsy cohort of 700 Caucasian Finnish men aged 33-70 years (mean 53 years), which comprised two autopsy series, collected 10 years apart during 1981-82 and 1991-92, were analysed. Areas of coronary wall covered with fatty streaks and fibrotic and complicated lesions were measured using computer-assisted planimetry and related to HL C-480T genotypes (CC, CT, and TT). RESULTS: There was a significant age-by-genotype interaction on the mean percentage area of fatty streaks (P = 0.01). The HL C-480T polymorphism was a significant explanatory factor for fatty streak area in men under 53 years of age with or without age, body mass index, hypertension, diabetes, smoking, alcohol consumption, apolipoprotein E genotype, and series number as covariates. Men carrying the TT genotype had two times larger areas of fatty streaks compared to the CC carriers (8.8% vs. 4.3%, P = 0.009). However, this association disappeared in men over 53 years. The areas of more advanced atherosclerotic lesions did not vary significantly among the genotype groups. CONCLUSIONS: Our results suggest that the HL C-480T polymorphism affects the formation of early coronary atherosclerotic lesions in men in their early middle age.     

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.     

Peroxisome proliferator-activated receptor gamma gene polymorphism is associated with serum triglyceride levels and body mass index in Japanese type 2 diabetic patients

Peroxisome proliferator-activated receptor gamma (PPARgamma) controls adipocyte differentiation and regulates lipid and glucose homeostasis. Therefore, the PPARgamma gene may affect insulin sensitivity and resistance. We analyzed the relationship between C/T exon 6 polymorphism of the PPARgamma gene and various clinical parameters in type 2 diabetic patients. There were no significant differences in the frequencies of genotype and allele between diabetic patients with and without nephropathy. Diabetic patients were divided into two groups: patients bearing at least one T allele (CT/TT), and patients with no T allele (CC). Levels of serum triglyceride and body mass index (BMI) were significantly higher in the CT/TT genotype group than in the CC genotype group. Since obesity affects insulin resistance, the diabetic patients were also divided into two groups: those with a BMI of <23, and those with a BMI of >23. In patients with a BMI of <23, there was no significant change in the levels of glycosylated hemoglobin A1c (HbA1c) between the CC and CT/TT genotype groups. However, in patients with a BMI of >23, HbA1c levels were significantly higher in the CT/TT genotype group than in the CC genotype group. It appears that the CT/TT genotype with PPARgamma gene polymorphism may contribute to higher BMI and higher serum triglyceride and HbA1c levels in Japanese type 2 diabetic patients.     

The G501C polymorphism of oxidized LDL receptor gene [OLR-1] is associated with susceptibility and serum C-reactive protein concentration in Chinese essential hypertensives

BACKGROUND: Oxidized LDL receptor gene 1 (OLR-1) polymorphism is reportedly associated with several cardiovascular conditions. However, its relationship with essential hypertension remains unknown. The aim of this study is to explore the association of OLR-1 polymorphism at position 501 in the open reading frame (G501C), with the susceptibility of essential hypertension. METHODS: 2-hundred eighty Chinese essential hypertensive and 284 control subjects were enrolled and genetic study was performed. The clinical data, i.e., sex, age, blood pressure, body mass index, smoking history, lipid profile and serum C-reactive protein concentration in both hypertensives and controls were obtained. RESULTS: A significant difference in OLR-1 genotype distributions was noted between the hypertensives and the controls (GG: 67.9% vs. 70.8%; GC: 20.0% vs. 23.6%; CC: 12.1% vs. 5.6%, P=0.021). For G and C allele frequencies, the difference between these 2 groups was significant as well (G: 67.5% vs. 23.5%, C: 82.6% vs. 17.4%, P=0.011). Logistic regression analysis revealed that the CC genotype is an independent risk factor for hypertension (OR=3.036, 95% CI: 1.572-6.174, P=0.016). Furthermore, when the serum C-reactive protein concentration in the hypertensive group was studied according to OLR-1 genotypes, the serum CRP concentration in CC homozygous carriers were found significantly higher than that in GC and GG carriers (1.53+/-0.32, 1.31+/-0.32 and 2.94+/-1.29 respectively, P=0.002). CONCLUSIONS: The CC genotype of OLR-1 G501C polymorphism is associated with susceptibility and serum C-reactive protein concentration in Chinese essential hypertensive population.     

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.     

牡丹江地区汉族及朝鲜族高血压人群中G蛋白133亚单位825C／T的多态性

背景：G蛋白B3亚单位825C／T基因多态性与朝鲜族人群原发性岛血压是否存在关系尚无报道。目的：研究牡丹江地区朝鲜族、汉族高血压患者C825T基因的多态性。方法：纳入2008-09／2010-08在牡丹江市朝鲜民族医院内科就诊的原发性高m压患者224例作为病例组,同时选取同时期的门诊体检的健康者196例作为对照。用PCR．RFLP检测G蛋白B3亚尊他基凶C825T多念性,观察TT,CT,CC基因型频率及等位基因频率。结果与结论：PCR．RFLP检测结果显示牡丹江地区朝鲜族高血压患者与朝鲜族健康人TT,CT,CC基因型频率差异无显著性意义（P〉0．05）;T,C等位基因频率差异有显著忡意义（尸〈0．05）。而牡坩江地区汉族人群中TT,CT,CC基因型分布在高血压人群和正常人群差异有显著性意义（P〈0．05）,而T,C等位基因频率幕异无疑著性意义（P〉005）。朝鲜族高血压组等位艟因C的比例较高,而汉族高血压组等位基因T的比例较高,存在民族异质性。提永G蚩白β3亚单位基因C825T多态性与牡丹江地区朝鲜族高血压无关联,但其是牡丹江地区汉族高血压的危险凶素。     

AT1R基因、ACE基因和CYP基因多态性与妊娠期高血压疾病的相关性研究

目的 探讨血管紧张素Ⅱ-1型受体(AT1R)基因A1166-C、血管紧张素转换酶(ACE)基因插入/缺失(I/D)和醛固酮合成酶(CYP11B2)基因-344T/C位点多态性与妊娠期高血压疾病(HDCP)的相关关系.方法 采用聚合酶链反应-限制性内切酶片段长度多态性技术(PCR-RFLP),分别检测HDCP组86例和正常对照组175例AT1R基因A1166-C、ACE基因I/D和CYP11B2基因-344T/C突变位点的基因型.结果 HDCP组和正常对照组AT1R基因A1166-C、ACE基因I/D和CYPllB2基因-344T/C多态性18种组合的分布不同,构成比不同;这18种组合中,相对于AT1R-AA+ACE-Ⅱ+CYP 1182-TT基因型,携带AT1R-AA+ACE-DD+CYP11B2-TC基因型人群的OR值为7.289;携带AT1R-AC+ACE-ID+CYP11B2-TC基因型人群的OR值为5.315;携带AT1R.AC+ACE-DD+CYP11B2-TC基因型人群的OR值为5.694.其余联合基因型,差异均无统计学意义(P均0.05);或者由于样本量小,不具有代表性.结论 HDCP组和正常对照组AT1R基因A1166-C、ACE基因I/D和CYPllB2基因-344T/C多态性18种组合中,AT1R-AA+ACE-DD+CYP11B2-TC联合基因型、AT1R-AC+ACE-ID+CYP11B2-TC联合基因型、AT1R-AC+ACE-DD+CYP11B2-TC联合基因型可能增加HDCP的遗传易感性;HDCP的发生,可能是多个基因共同作用的结果 .