Objective To investigate the association of plasma homocysteine（Hcy） level and 5,10-methylenetetrahydrofolate reductase（MTHFR） gene C677T polymorphisms with early-onset large artery atherosclerosis（LAA） ischemic stroke（IS）. Methods A population-based case-control study was conducted, a total of 847 patients with acute early-onset（age ≤55 years） LAA IS in the case group and 1765 patients in the control group were collected. Plasma Hcy level were detected by enzyme-linked immunosorbent assay（ELISA）. Genotyping was performed by Sequenom Mass Array Mass spectrometry using Spectrochip-G384 chip single chain extension method. The OR and 95%CI were calculated by binary Logistic regression. Results The TT homozygous genotypes frequencies of C677T in case group and control group were 2.13% and 0.85%, respectively, and the difference was statistically significant（P=0.007）. In the case group, the TT genotype carriers was 2.578 times more susceptible to IS than that in subjects with CC genotype carriers（OR=2.578, 95%CI:1.291-5.150, P=0.007）. The plasma Hcy level in the case group were significantly higher in case group than that in control group（14.04±7.77μmol/L vs 11.04±4.51μmol/L）, and the difference was statistically significant（P＜0.001）. In the case group, the plasma Hcy level of TT genotype carriers were the highest, the CT genotype was in the middle, and the CC genotype was the lowest, which were 22.26±11.11μmol/L, 19.98±8.69μmol/L, 11.78±2.19μmol/L, respectively. Conclusion MTHFR gene C677T polymorphism is associated with susceptibility to LAAIS, and is involved in the occurrence of disease by decreasing MTHFR enzyme activity and increasing plasma Hcy level.

目的 分析新疆和田地区长寿人群健康状况,并采用全基因组关联分析(GWAS)进行长寿基因筛查.方法 连续纳入新疆和田地区维吾尔族长寿人群为长寿组(n=110),同时纳入该地区同期非长寿人群为对照组(n=90),随访并统计纳入人群的基线资料及血压、血脂、血糖及肾功能等相关健康指标,基于DNA池技术,应用GWAS分析与长寿相关的基因位点,并采用多重线性回归分析健康指标与长寿相关位点的依存关系.结果 长寿组人群收缩压(SBP)、血尿素氮(BUN)、肌酐(CRE)、血清总胆固醇(TC)、低密度脂蛋白胆固醇(LDL-C)及空腹血糖(FBG)等指标水平显著低于对照组,高密度脂蛋白胆固醇(HDL-C)显著高于对照组(P<0.05).同时rs2879135 GG基因型、rs11217987 AT基因型及rs714205 CG基因型与长寿存在正相关关系(P<0.05),此外rs2879135与SBP、CRE、TC、HDL-C及LDL-C等指标存在依存关系(P<0.05),而rs11217987则与CRE、TC、HDL-C、LDL-C和FBG等指标存在依存关系(P<0.05).结论 通过GWAS发现rs2879135 GG基因型、r511217987 AT基因及rs714205 CG基因型与新疆和田地区长寿人群健康状况相关.

Ischemic stroke, one of the prevalent causes of death and disability worldwide, is linked to environmental and genetic factors, including polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene involved in homocysteine metabolism. The present study aimed to explore the relationship between the MTHFR C677T variant, plasma homocysteine, and risk of developing large-artery atherosclerotic ischemic stroke (LAAIS) among Han Chinese. A population-based case-control study, which included 1810 patients with LAAIS and 1765 unrelated control subjects, was conducted. Compared to the controls, LAAIS patients had a significantly higher prevalence of hypertension, diabetes mellitus, smoking, and alcohol consumption (P < .001), as well as significantly higher mean fasting blood glucose, triglyceride, total cholesterol, and plasma homocysteine levels (P < .001). The TT homozygous genotype correlated with increased risk of developing LAAIS, as indicated by a significantly higher odds ratio (OR) compared to the CT and CC genotypes, in both additive (OR = 3.215, P = .01) and recessive models (OR = 3.265, P = .01). The plasma homocysteine level was genotype-dependent according to the following trend: TT > CT > CC. In conclusion, our data demonstrate that, in spite of its low prevalence in both patients and controls (1.5% vs 0.8%), the MTHFR C677T variant could, at least in part, affect homocysteine levels and this, either alone or in combination with other factors, increases the risk of LAAIS.

Hypertension is a well-known risk factor for stroke, but the relationship between blood pressure variation (BPV) and prognosis remains unclear. This prospective observational study assessed the association between BPV and early functional outcomes in acute ischemic stroke patients. A total of 871 patients with acute ischemic stroke within 24 h of symptom onset were recruited from the Third Affiliated Hospital of Qiqihar Medical University between 2013 and 2016. Within 6 days of hospitalization, blood pressure was continuously measured from 8:00 to 9:00 every day, and the coefficient of variation (CV) of blood pressure was calculated (including systolic blood pressure [SBP] and diastolic blood pressure [DBP]). The modified Rankin scale was used to evaluate early functional outcomes at discharge. The coefficients of variation of SBP, DBP, and functional outcomes were included as primary outcome variables. Demographic characteristics and medical history were recorded as secondary outcome variables. We found that a greater CV level of SBP and DBP were associated with the poor early functional outcome at hospital discharge, and the odds ratio (OR) and 95% confidence interval (95%CI) of them were 1.56 (1.04-2.35) and 1.99 (1.31-3.03) respectively. A higher standard deviation (SD) of SBP and DBP significantly increased risk of poor early prognosis, OR (95%CI) was 1.78 (1.17-2.71) and 2.25 (1.47-3.45) respectively. Similar results were observed for SBP and DBP. The larger the range of SBP and DBP, the worse is the prognosis. In conclusion, the present study suggests that high BPV is a risk factor for poor early prognosis in acute ischemic stroke.

目的 探讨急性心梗患者和健康人群心肌损伤标志物表达的差异性,讨论其临床诊断意义.方法 选择2020年1—12月本院收治的心梗患者110例作为病例组,另选择同期本院健康体检者92名作为对照组,采集静脉血3 ml,使用贝克曼AU5800生化分析仪检测血清中谷氨酰基转移酶(GGT)、谷丙转氨酶(ALT)、谷草转氨酶(AST)、乳酸脱氢酶(LDH)、羟丁酸脱氢酶(HBDH)、肌酸激酶(CK)及肌酸激酶同工酶(CKMB)水平,分析两组各指标的表达差异.结果 对照组的GGT、ALT、AST、LDH、HBDH、CK及CKMB的表达水平均低于病例组,差异均具有统计学意义(P<0.05).结论 心肌损伤标志物GGT、ALT、AST、LDH、HBDH、CK、CKMB的变化有助于急性心梗的临床诊断,对突发急性心梗患者的早发现、早治疗可提供一定数据支持,提高患者生命质量及远期愈后.

Voltage-gated Ca2+ channels play a key role in the regulation of arterial tone and blood pressure. The aim of this study was to determine whether the association of calcium voltage-gated channel subunit alpha1 C (CACNA1C) rs1006737 with essential hypertension (EH) exists in both Chinese Han and ethnic Russian populations of Northeast Asia. We used a case-control study of 2 ethnic groups in the same latitude geographical area to investigate the association between the susceptibility of EH and rs1006737 polymorphism. A total of 1512 EH patients and 1690 controls in Chinese Han people (Heilongjiang Provence, China), 250 EH patients, and 250 controls in ethnic Russian people (Chita, Russia), participated in this study. All participants were genotyped using the TaqMan SNP genotyping assay (Agena Company). Baseline characteristics and the minor allele frequencies of rs1006737 vary substantially among common Chinese Han and ethnic Russian people. Allele A was found to be a risk factor for EH in Chinese Han [(odds ratio) OR 1.705, (confidence interval) 95% CI: 1.332-2.182, P < .001] and ethnic Russian (OR 1.437; 95% CI: 1.110-1.860, P = .006). The GA genotype was significantly associated with an increased risk of hypertension (OR 1.538, 95% CI: 1.188-1.991, P = .001) for Chinese Han people, and the AA genotype (OR 2.412, 95% CI: 1.348-4.318, P = .003) for ethnic Russian people. The results of this study indicate that the A allele of the variant rs1006737 in the CACNA1C gene may be a useful genetic marker for EH risk prediction in Chinese Han and ethnic Russian populations.

BACKGROUND:Human cytomegalovirus (HCMV) is the most frequent cause of congenital infections and can lead to adverse pregnancy outcomes (APOs). HCMV encodes multiple microRNAs (miRNAs) that have been reported to be partially related to host immune responses, cell cycle regulation, viral replication, and viral latency, and can be detected in human plasma. However, the relevance for HCMV-encoded miRNAs in maternal plasma as an indicator for APOs has never been evaluated. METHODS:Expression profiles of 22 HCMV-encoded miRNAs were first measured in plasma samples from 20 pregnant women with APOs and 28 normal controls using quantitative reverse-transcription polymerase chain reaction. Next, markedly changed miRNAs were validated in another independent validation set consisting of 20 pregnant women with APOs and 27 control subjects. Markedly changed miRNAs were further assessed in the placenta tissues. HCMV DNA in peripheral blood leukocytes (PBLs) and anti-HCMV immunoglobulin M (IgM) and anti-HCMV immunoglobulin G (IgG) in plasma were also examined in both training and validation sets. Diagnostic value and risk factors were compared between APO cohorts and normal controls. RESULTS:Analysis of the training and validation data sets revealed that plasma concentrations of hcmv-miR-UL148D, hcmv-miR-US25-1-5p and hcmv-miR-US5-1 were significantly increased in pregnant women with APOs compared with normal controls. Hcmv-miR-US25-1-5p presented the largest area under the receiver-operating characteristic (ROC) curve (AUC) (0.735; 95% CI, 0.635-0.836), with a sensitivity of 68% and specificity of 71%. Furthermore, plasma levels of hcmv-miR-US25-1-5p and hcmv-miR-US5-1 correlated positively with APOs (P=0.029 and 0.035, respectively). Hcmv-miR-US25-1-5p in the placenta tissues were dramatically increased in APOs, and correlated with plasma hcmv-miR-US25-1-5p. Nevertheless, neither the concentration of HCMV DNA in PBLs nor the positivity rates of anti-HCMV IgM and anti-HCMV IgG in plasma showed a statistically significant correlation with APOs. CONCLUSIONS:We identified a unique signature of HCMV-encoded miRNAs in pregnant women with APOs that may be useful as a potential noninvasive biomarker for predicting and monitoring APOs during HCMV infection.

Aims: Diabetes mellitus and hypertension are both complex diseases that are caused by interactions among multiple genetic and physiological factors. To investigate the association of common single-nucleotide polymorphisms (SNPs) of SUCNR1, GRK4 and CAMK1D genes with the susceptibility of the two diseases in a northern Chinese Han population. Methods: 36 SNPs were genotyped in 2304 clinical patients (1152 type 2 diabetes mellitus, 1152 essential hypertension) and 1152 health controls by Sequenom Mass-ARRAY RS1000. Results: In this study, we found that BMI, blood press, pulse pressure, FBG, total cholesterol and triglycerides were associated with an increased risk of type 2 diabetes mellitus (T2DM) and essential hypertension (EH). Three SNPs (SUCNR1: rs73168929; GRK4: rs1557213; CAMK1D: rs17151584) significantly associated with the susceptibility of T2DM and EH at the same time. Also, the susceptibility genotypes of 3 SNPs were significantly correlated with liver and renal function parameters. Conclusion: To the best of our knowledge, the present study is the first to report that three SNPs (SUCNR1: rs73168929; GRK4: rs1557213; CAMK1D: rs17151584) contributed to the risk of T2DM and EH in a northern Chinese Han population. These results provide a favourable evidence for better understand of the underlying common mechanism of these two diseases. (C) 2020 Elsevier Inc. All rights reserved.

There is a significant correlation between ischemic stroke (IS) and chromosome 9. However, its status was uncertain in China's cold regions. 1920 IS patients, and 1920 healthy individuals were included in the study. Blood samples were collected. The association of SNPs with IS was evaluated by Sequenom, and logistic regression models adjusted for known risk factors of IS were constructed to assess the SNPs' associations in cases and controls. We found rs1333040 and rs2383207 were associated with IS, compared with primitive genotypes. The genotype CT of rs7027526 has a protective role during IS development, while the effect of the genotype TT is still not clear. These results changed after stratification by age and sex. In conclusion, rs1333040 and rs2383207 SNPs in CDKN2BAS are associated with ischemic stroke in the Chinese Han population. This study confirms the association between 9p21.3 and IS.

目的 新疆维吾尔自治区和田地区长寿相关单核苷酸多态性(SNP)的全基因组关联分析(GWAS)及其与健康状况相关性探究.方法 纳入新疆维吾尔自治区和田地区长寿人群122例为长寿组,该地区同期非长寿人群98例为对照组,采用GWAS分析与长寿相关的SNP,同时测量研究对象的体重指数(BMI)、空腹血糖(FBG)水平、收缩压(SBP)和舒张压(DBP)以及测定血清总胆固醇(TC)、甘油三酯(TG)、低密度脂蛋白胆固醇(LDL-C)以及高密度脂蛋白胆固醇(HDL-C)等血脂水平,此外采用多重回归分析长寿相关基因与健康状况的相关性.结果 rs4449651 TT基因型、rs1718307 TT基因型、rs4316818 TT基因型及rs2834384 GG型与长寿呈强相关性(P<0.05).同时长寿组人群BMI、FBG、TG、TG以及LDL-C水平降低,HDL-C水平显著升高(P<0.05).多重线性回归分析发现BMI和rs4449651、rs1718307、rs4316818以及rs2834384均具有显著相关性(P<0.05),FBG水平与rs4449651及rs1718307呈相关性(P<0.05),TC水平则与rs1718307、rs4316818以及rs2834384呈相关性(P<0.05),TG水平与rs2834384呈相关性(P<0.05),而HDL-C以及LDL-C则与rs4316818以及rs2834384呈相关性(P<0.05).结论 rs4449651、rs1718307、rs4316818及rs2834384共4个基因型与长寿呈强相关性,同时与BMI、血糖以及血脂等健康指标具有相关性.

目的 观察脑梗死患者血小板糖膜蛋白Ⅱb基因(ITGA2B基因)的多态性.方法 选取齐齐哈尔医学院第二附属医院收治的高纬度脑梗死患者384例(观察组),另选与齐齐哈尔市处于同一纬度的漠河市北极镇健康体检无脑卒中健康居民384例(对照组),运用HapView软件筛选ITGA2B基因的标签位点,并采用SpectroChipⅡ-G384芯片技术对筛选出的多态性位点(SNP)进行检测,通过对比不同基因型的频数,分析两组间基因型分布的统计学差异.结果 经Hardy-Weinberg平衡检验和连锁不平衡分析,剔除不适宜位点后取rs850730和rs11780452两个位点,共740例样本(对照组379例,观察组361例)纳入分析;χ2检验显示两个位点均与脑梗死无关.但按年龄进行分层后,结果显示在非老年人(<60岁)中位点rs850730的AG基因型和等位基因A均增加了脑梗死的危险性,OR(95％CI)=1.819(1.136,2.913)和1.324(1.012,1.733);计算该位点的显性模型,结果显示脑梗死发病危险性显著增加,OR(95％CI)=1.667(1.065,2.611).结论 ITGA2B基因虽与脑梗死无显著关联,但在年龄低于60岁群体中可增加脑梗死发病的可能性.

目的 通过病例-对照分析研究探讨东北汉族人群中内皮型一氧化氮合酶(eNOS)基因多态性与原发性高血压(EH)的关系.方法 本项目主要基于黑龙江省的2次现场流行病学调查研究,总共纳入受试者2208人,其中正常血压组1046人,EH组1162例.通过Sequenom MassArry平台对eNOS基因单核苷酸多态性(SNP) rs1800780,rs2070744,rs891512,rs7830和rs3918227进行基因分型.采用SPSS 20.0软件用于统计基因型和等位基因频率的组间差异,并使用SHEsis软件进行SNP位点Hardy-Weinberg平衡检验和单倍型分析.结果 rs1800780在正常血压组显示Hardy-Weinberg不平衡,其余4个SNP基因型分布在两组中均显示Hardy-Weinberg平衡,因此在后续分析中排除rs1800780.4个SNP的基因型分布和等位基因频率在两组间差异无统计学意义(P＞0.05);单倍型分析显示,与正常血压组相比,EH组单倍型GCGC(rs891512-rs2070744-rs7830-rs3918227)频率显著增高(1.7％比0.6％,x2 =8.634,P=0.003,OR=2.834,95％ CI 1.372～5.856).结论 东北汉族人群中,单个eNOS基因SNP与EH无关,但携带单倍型GCGC(rs891512-rs2070744-rs7830-rs3918227)与EH相关.

Uncoupling proteins (UCPs) belong to the family of mitochondrial transporter proteins and mediate regulated proton leak across the inner mitochondrial membrane. The UCPs play an important role in energy homeostasis and reactive oxygen species (ROS) release, and have been established as candidate genes for obesity, diabetes and hypertension. This study examined the possible association between the single nucleotide polymorphisms (SNPs) of UCP1–3 genes and essential hypertension (EH) in a northeastern Han Chinese population. A total of 2207 Chinese Han subjects were enrolled, including 1045 normotensives and 1162 hypertensives. Genotyping of UCP1 rs1800592, UCP1 rs12502572, UCP2 rs659366, UCP2 rs660339, and UCP3 rs3781907 was detected using Sequenom MassArray System. SHEsis was used to analyze linkage disequilibrium and haplotype. No evident association was observed between the genotype distributions and allele frequencies of individual SNPs and EH. Haplotype analysis showed the haplotype GAATA (rs1800592-rs12502572-rs659366-rs660339-rs3781907) was significantly associated with lower EH risk (p = 0.001, χ2 = 10.861, OR = 0.634, 95% CI = 0.483–0.833), and AGATG was associated with increased EH risk (p = 0.012, χ2 = 6.287, OR = 1.265, 95% CI = 1.052–1.521). These findings suggest haplotypes of UCP1–3 genes are linked to EH risk in a northeastern Han Chinese population. Further investigation with larger sample size in multiethnic population is needed to confirm our results.

目的 初步筛查新疆和田地区维吾尔族长寿相关基因.方法 应用全基因组关联分析(GWAS),基于DNA池技术(DNA-pooling)及全基因组扫描(SNP-Map)策略,2014年1至6月对和田维吾尔族长寿组(年龄≥90岁,n=54)及对照组(70岁之前死亡者,n=54)进行全基因扫描,选取可能有差异的基因位点后,用直接测序和PCR-限制性片段长度多态性(RFLP)方法,对各位点进行大样本验证,按上述标准选取500人为长寿组,250人为对照组,计算出基因型及相应等位基因的频率.结果 长寿相关基因的全基因组SNP中,rs6450874、rs6800573和rs6741735三个位点各基因型和等位基因频率分布在两组间差异均无统计学意义(均P ＞0.05);rs1718307、rs4449651、rs11217987和rs2907092基因型和等位基因频率分布两组间差异均有统计学意义(均P＜0.05).rs11217987 TT基因型(OR=1.462,P=0.034)、rs2907092 GG基因型(OR =3.000,P=0.018)与长寿呈正相关,rs11217987位点T等位基因(OR=1.382,95％ CI:1.075～1.776)、rs2907092位点G等位基因(OR=1.672,95％ CI:1.267 ～2.205)携带者长寿的频率较高.rs4449651(OR=6.892,P=0.009)、rs1718307(OR=4.036,P＜O.001)TT基因型与长寿呈正相关,且OR值均＞4.O;这两个位点的T等位基因携带者(OR=1.793,95％ CI:1.298～2.477;OR=1.830,95％ CI:1.391～2.407)长寿的频率较高.结论 GWAS能够有效及大范围地分析人类长寿相关基因,rs1718307、rs4449651、rs11217987和rs2907092与新疆和田地区维吾尔族长寿相关.

目的 探讨ACE活性?ACE2活性及ACE/ACE2活性比是否存在性别和年龄差异性. 方法 运用ELISA方法检测220名健康个体血清中ACE和ACE2活性,计算ACE活性与ACE2活性比. 结果 将男性和女性进行比较,ACE/ACE2活性比差异具有统计学意义(P<0.05);将两个年龄组(年龄<55岁为年轻组和年龄≥55岁为老年组)进行比较,发现ACE活性?ACE2活性?ACE/ACE2活性比在两组间均具有统计学差异(P<0.05). 结论 ACE和ACE2活性水平可能受性别和年龄因素影响.

目的 通过调查新疆和田地区百岁老人的流行病学特征及分析生化指标,进行百岁老人与低龄老人的差异性研究.方法 通过整群分层抽样的方法,对长期居住在新疆和田地区的维吾尔族人群进行抽样调查,选取年龄≥100岁的自然长寿老人为百岁组,同时选择同一地区无血缘关系已自然死亡人群,年龄在60～80岁之间,作为死亡组,对2组进行问卷调查、体格检查以及抽血化验等.结果 百岁组的收缩压高于死亡组(P<0.01),腰围、血尿素氮(BUN)、肌酐(Cr)、尿酸(UA)、甘油三酯(TG)、总胆固醇(TC)、低密度脂蛋白胆固醇(LDL-C)、载脂蛋白A(Apo A)、载脂蛋白B(Apo B)水平均低于死亡组(P<0.05或P<0.01).比较2组人群的生活状况,百岁组生活规律、心理乐观、运动、家庭和睦、家族长寿史、饮食情况、慢性病史等方面均优于死亡组,差异有统计学意义(P<0.05).结论 新疆和田地区百岁老人普遍有着良好的生活方式,长寿因素与老年人的生活方式、遗传、环境等有关,但百岁老人平均收缩压水平较高,应该早期重视早期预防,控制血压,避免心脑血管意外的发生.

Angiotensin I converting enzyme (ACE) gene is one of the most-studied candidate genes related to essential hypertension (EH). Pulse pressure (PP) may reflect vascular stiffness, especially in patients with EH, and has been used to predict EH. Previous evidence has indicated that obesity is a traditional risk factor of hypertension. The aim of the present study was to investigate the interaction between the obesity status and ACE gene polymorphisms on the development of high level of PP. A total of 1980 adults (1024 hypertensive and 956 normotensive) were included in this study and genotyped for ACE gene polymorphisms. The results showed that rs4343 and rs4351 in ACE gene were risk factors of high level of pulse pressure (p < 0.05). We also detected positive interactions between the two SNPs and obesity status in the pathway of high level PP.

目的 探讨随着时间的推移和生活方式的转变,克里雅人代谢综合征患病率的变化.方法 2005年8月、2008年10月,分别采取随机抽样的方法在克里雅人群和于田县先拜巴扎镇维吾尔族人群进行流行病学调查.2005年8月随机抽取年龄≥16岁克里雅人359人,平均年龄(33.65±19.51)岁,男性205人,女性154人;和田于田县≥16岁维吾尔族101人,平均年龄(35.15±17.89)岁,男性51人,女性50人.2008年10月随机抽取年龄≥16岁克里雅人503人,平均年龄(35.72±16.40)岁,男性293人,女性210人;和田于田县≥16岁维吾尔族人237人,平均年龄(37.30±18.31)岁,男性138人,女性99人.结果 2005年8月与2008年10月比较,克里雅人高血压患病率有所增加[6.69％(24/359)比9.94％(50/503)(x2=2.83,P=0.109)];克里雅人糖尿病患病率有所增加[1.67％(6/359)比2.19％(11/503) (x2=0.30,P=0.63)];克里雅人代谢综合征患病率明显增加[1.95％(7/359)比5.20％(26/500) (x2=5.975,P=0.018)].结论 通过对2005年8月与2008年10月比较,克里雅人代谢综合征患病率有所升高,差异有统计学意义,这与他们生活方式的转变密切相关.

Angiotensin converting enzyme (ACE) gene, as a strong candidate gene for essential hypertension(EH), has been extensively studied. In this study, we carried out a population-based case-control study to explore whether ACE gene I/D and A2350G polymorphisms could consider to be risk factors for EH. A total of 2040 subjeces were recruited from Chinese Han in this study, out of which 1010 were cases and 1030 were normotensive individuals. ACE gene A2350G and I/D polymorphisms were amplified by polymerase chain reaction (PCR) and A2350G polymorphism was detected after restriction enzyme digestion with BstuI. Besides, we choosed 10% samples randomly sequencing to verify the accuracy of results. Genotype and allele frequencies distribution of I/D and A2350G in EH and control groups were significantly different. After grouped by sex or age, there were still statistical significances for two polymorphisms. In dominant and recessive model of A2350G, we found significant differences between two groups, respectively. For ACE I/D polymorphism, we observed that the existence of dramatical difference in dominant model between two groups, while in recessive model, marginally significant difference was found. Among the four haplotypes composed by ACE gene A2350G and I/D, haplotype G-D reached the statistical significance in two groups, and exhibited to be a risk factor for the development of EH, whose P < 0.001 and OR 95%CI = 1.639(1.435–1.872), while the other haplotypes were the protective factors and decreased the susceptibility to EH(P < 0.05). ACE gene A2350G and I/D polymorphisms were associated with increasing the risk of suffering from EH in the northernmost province of China individuals, with D allele and G allele individuals had a higher risk of EH(OR = 1.443, 95%CI = 1.273–1.636 and OR = 1.481, 95%CI = 1.303–1.684).

Angiotensin-converting enzyme 2 (ACE2) plays an important role in the development of essential hypertension (EH). The aim of this study was to investigate the relationship of ACE2 gene polymorphisms and enzymatic activity with EH in the northeastern Chinese Han population. 34 single-nucleotide polymorphism (SNP) loci of ACE2 were detected in 1024 EH patients and 956 normotensive (NT) controls by Sequenom Mass-ARRAY RS1000. Five SNPs (rs1514283, rs4646155, rs4646176, rs2285666, and rs879922) in ACE2 gene were determined to significantly associate with EH in female participants, while no SNP locus was linked to male group. Specifically, it was the first time to report that rs4646155 was significantly associated with EH in females. Furthermore, the correlation between ACE2 activity and clinical parameters were performed by Pearson correlation analysis in EH patients. We found that the ACE2 activity level was negatively correlated with body mass index (BMI), DBP, and pulse pressure, and significantly positively with ACE2 concentration, blood glucose and estrogen level in female EH patients. These results demonstrated that the genetic variants of ACE2 played vital roles in the development of EH. And the serum ACE2 activity can predict the development of cardiac dysfunction in EH patients.