血管紧张素转换酶2和血管紧张素转换酶基因多态性与妊娠期糖尿病相关性研究

目的探讨血管紧张素转换酶2(angiotensin converting enzyme 2,ACE2)单核苷酸多态性位点rs2285666及血管紧张素转换酶(angiotensin converting enzyme,ACE)插入/缺失(insertion/deletion,I/D)多态性与妊娠期糖尿病(GDM)的相关性。方法选取GDM孕妇360例,糖耐量受损(IGT)孕妇167例,以糖耐量正常(NGT)孕妇428例及50 g葡萄糖激发试验阴性[GCT(-)]孕妇273例[NGT+GCT(-)]为对照。共纳入受试者1,228例,采用聚合酶链反应(PCR)及聚合酶链反应-限制性片断长度多态性(PCR-RFLP)方法检测ACE2及ACE基因多态性。结果各组间ACE2 rs2285666和ACEI/D基因型及等位基因分布频率均无统计学差异(P>0.05)。GDM组ACE2 TT和ACE(DD+ID)基因型的组合TT(DD+ID)频率显著高于对照组(18.9%vs12.6%,P=0.005),具有TT(DD+ID)基因型者患GDM的危险性是具有其他基因型组合者的1.577倍[OR=1.577,95%CI(1.144～2.173)],通过logistic回归分析,校正年龄、血压、白细胞总数、甘油三脂的影响后,具有TT(DD+ID)基因型的孕妇患GDM的危险性是具有其他基因型组合者的1.699倍[OR=1.699,95%CI(1.129～2.556),Wald=6.46,P=0.011]。对照组中ACE基因型为(DD+ID)者的舒张压比ACE基因型为II者高[(68±9)mmHgvs(66±8)mmHg,t=2.635,P=0.009]。结论ACE2基因型TT和ACE基因型(DD+ID)的组合即TT(DD+ID)可能会增加妇女发生GDM的危险性,在正常妊娠妇女中携带ACE D等位基因者有相对较高的舒张压水平。     

IgA肾病与血管紧张素转换酶基因多态性研究

为了进一步明确血管紧张素转换酶 (ＡＣＥ)基因多态性与ＩｇＡ肾病的关系 ,我们随机对 1 1 0例ＩｇＡ肾病患者及 1 1 6例正常人ＡＣＥ基因进行检测 ,并结合ＩｇＡ肾病临床及病理特点 ,对ＡＣＥ基因多态性分布作了分析研究。材料与方法1　研究对象及实验室检查　 1 1 0例ＩｇＡ肾病患者系 1 998年 1月～ 1 999年 1 2月本院无选择性的住院患者 ,1 1 0例均接受肾活检。患者肾组织病理经光镜、免疫荧光、部分经电镜检查确诊为ＩｇＡ肾病 ,其中男性 6 3例 ,女性 47例 ,均为汉族 ;年龄1 1岁～ 56岁 ,平均年龄 3 0 7岁。所有患者排除了过敏性紫癜…     

血管紧张素转换酶基因多态性与肾小球疾病

长期以来,肾小球疾病的易感性和(或)预后与遗传因素(如HLA)间的关系,一直是肾脏病学界广泛关注的问题。近年来随着分子生物学等研究手段的成熟和深入,一些研究结果显示某些基因多态性,如血管紧张素转换酶(ACE)基因、白细胞介素-1受体拮抗剂基因、粘附分子基因、肿瘤坏死因子-α(TNF-α)基因等多态性与某些肾脏疾病的严重性、预后和(或)易感性明显相关,探讨两者的关系已成为肾脏病领域中新的研究热点。这对于阐明疾病发病机理,更正确判断预     

系统性红斑狼疮与血管紧张素转换酶基因多态性

系统性红斑狼疮（ＳＬＥ）是一种比较常见的累及多脏器的自身免疫性疾病，其对肾脏的累及尤其明显，且其临床与病理表现多种多样，预后在不同个体间相差悬殊，其发病机制至今仍不完全清楚。肾素－血管紧张素系统（ＲＡＳ）是机体内一个重要的系统，许多研究表明，其与免疫系统功能异常有关[１］，在ＳＬＥ的发病过程中也参与了免疫介导的多脏器损伤过程[２］，其在肾脏病的病情进展中起了重要作用。 血管紧张素转化酶（ＡＣＥ）是ＲＡＳ系统的一个关键酶，ＡＣＥ基因存在着多态性。ＡＣＥ基因第１６内含子存在一个2８７ｂｐ的插入／缺失变异…     

河北地区汉族人血管紧张素转换酶基因与糖尿病肾病的相关性研究

目的探讨血管紧张素转换酶（ＡＣＥ）基因与糖尿病肾病（ＤＮ）发病的关系。方法用ＰＣＲ方法检测１４９例ＮＩＤＤＭ患者及１００例正常对照的ＡＣＥ基因型。结果（１）ＡＣＥ基因型及等位基因构成比在正常对照组和ＮＩＤＤＭ组间无统计学差异;（２）ＤＤ基因型及Ｄ等位基因频率在ＤＮ组（０２７）显著高于非ＤＮ组（００９）。结论ＡＣＥ基因多态性与ＤＮ发病有关。     

血管紧张素转换酶基因多态性与糖尿病及其肾脏合并症发病的关系

目的探讨血管紧张素转换酶（ＡＣＥ）基因插入／缺失（Ｉ／Ｄ）多态性与Ⅱ型糖尿病（ＮＩＤＤＭ）及其肾脏合并症发病的关系。方法应用聚合酶链反应（ＰＣＲ）扩增技术检测了１０９例ＮＩＤＤＭ患者及１５５例健康对照者的ＡＣＥ基因Ｉ／Ｄ多态性。结果位于ＡＣＥ基因第１６内含子的Ｉ／Ｄ多态性经ＰＣＲ技术扩增后分为三种基因型：纯合子缺失型（ＤＤ）,纯合子插入型（Ｉ）及杂合子插入／缺失型（ＩＤ）。１０９例ＮＩＤＤＭ患者与１５５例正常对照组之间基因型及等位基因频率差异均无显著意义;ＮＩＤＤＭ合并肾病者（ＤＮ）的基因型与未合并肾病者无显著性差异,但等位基因则有显著性差异（Ｄ、Ｉ等位基因为０４５和０５５对０３０和０７０）（Ｐ＜００２）;ＮＩＤＤＭ病程≤１年即伴有肾病者与病程≥５年仍无肾病者比较,ＤＤ型及Ｄ等位基因均显著高于无肾病组（Ｐ均＜００５）,后者以Ｉ型及Ｉ等位基因占绝对优势。结论ＡＣＥ基因多态性与ＮＩＤＤＭ发病无关,而与其肾脏合并症则明显相关,ＤＤ型是ＤＮ的易感基因,而Ｉ型则为其保护基因。     

血管紧张素Ⅰ转换酶基因多态性与肾脏疾病

血管紧张素Ⅰ转换酶（ＡＣＥ）是一种锌金属肽酶，其主要作用底物为血管紧张素Ⅰ和缓激肽，通过血管紧张素Ⅱ（Ａ－Ⅱ）的生成及缓激肽的降解调节血管的紧张性和血管平滑肌细胞增殖，参与了多种肾脏疾病的病理生理改变。随着分子生物学技术的发展，已明确ＡＣＥ基因的１６内含子内存在一个２８７ｂｐ的插入／缺失（Ｉ／Ｄ）多态性，ＡＣＥ基因有３种基因型：ＤＤ型、ＤＩ型和Ⅱ型。研究表明机体ＡＣＥ水平受ＡＣＥ基因Ｉ／Ｄ多态性影     

湘西地区苗族人群糖尿病肾病遗传流行病学调查及血管紧张素转换酶基因多态性研究

我们对本地区苗族人群糖尿病肾病(DN)的遗传流行病学进行调查,并用PCR检测出其基因多态性,且与汉族人群中DN患者进行对照。旨在探讨本地区不同族类人群中血管紧张素转换酶(ACE)基因的插入、缺失(I/D)多态性与DN的发病关系。 一、材料与方法 1.对象选择:选自经我院确诊的DN患者。调查其中68例苗族患者家系及其中一、二级亲属,共1262人。 2.群体患病率:对湖南西部及毗邻地区进行DN普查。苗族人群中3486人     

高血压病人血管紧张素转换酶基因多态性与气管插管心血管反应的关系

肾素-血管紧张素系统(RAS)是机体参与心血管活动体液调节的重要因素之一,血管紧张素转换酶(ACE)是RAS中的重要成分,ACE基因多态性与原发性高血压、冠心病等心血管系统疾病的关系已有报道[1,2]。本研究旨在观察高血压病人不同ACE基因型与全麻气管插管心血管反应的关系。     

KCNQ1基因单核苷酸多态性与妊娠期糖尿病相关性研究

目的探讨KCNQ1基因单核苷酸多态性(SNP)位点rs2237892、rs2237895及rs2237896与妊娠期糖尿病(GDM)的相关性。方法本研究共纳入1436例孕妇,其中GDM 520例,糖耐量正常(NGT) 641例以及50 g葡萄糖激发试验阴性[GCT(-)]275例,后两组设为对照。采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)的方法检测KCNQ1基因的多态性。并以稳态模型评估指数(HOMA)评估其胰岛β细胞功能及胰岛素抵抗。结果(1)SNP rs2237896的三种基因型(AA、AG、GG)在GDM组及对照组分布频率分别为8.8%、46.7%、44.4%和13.1%、47.5%、39.4%,两组的基因型分布频率差异显著(P=0.011)。该位点在其隐性模型中(AA vs AG+GG),两组差异仍显著(P=0.016)。rs2237896等位基因A、G的分布频率在GDM组和对照组分别为32.2%、67.8%和36.8%、63.2%,GDM组中G等位基因分布频率高于对照组,差异有显著性[P=0.012,OR 1.228(95%CI 1.045～1.442)]。(2) SNP rs2237895的三种基因型(AA、AC、CC)在GDM组及对照组分布频率分别为39%、53.3%、7.7%和48.1%、43.0%、8.8%,两组的基因型分布频率差异显著(P=0.022)。该位点在其显性模型中(CC+AC vs AA),两组差异仍显著(P=0.001)。其等位基因A、C的分布频率在GDM组和对照组分别为65.7%、34.3%和69.7%、30.3%,GDM组中C等位基因分布频率高于对照组,差异有显著性[P=0.028,OR 1.200(1.020～1.411)]。(3)将受试者按SNP rs2237895基因型AA、AC、CC分类,其HOMA-B值分别为(158.15±99.66)、(141.72±132.62)和(131.54±189.85),差异具有显著性(P=0.021),基因型CC的孕妇具有最小的HOMA-B值。同时,该位点在显性模型中,差异也有显著性(P=0.005)[HOMA-B值为(140.25±142.15)(AC+CC)vs(158.15±99.66)(AA)]。结论在中国人群中KCNQ1基因SNP与GDM具有一定相关性,可能与具有风险基因的个体其胰岛β细胞功能更易受到损伤有关。     

妊娠期糖尿病分子遗传学研究进展

妊娠期糖尿病（GDM）是指妇女在妊娠期发生或首次发现的不同程度的糖耐量异常.与妊娠相关的胰岛素抵抗程度超过了胰岛β细胞功能代偿的极限是目前较为公认的GDM发病原因,但其具体的发病机制尚不完全清楚.近年的研究表明,遗传因素在GDM的发生发展中起重要作用,一些基因的多态性可能影响到个体GDM易感性的差异.现就近年的关GDM基因多态性方面的研究做一综述.     

Indicators of glycemic control in patients with gestational diabetes mellitus and pregnant women with diabetes mellitus

Recently, it has become clear that mild abnormal glucose tolerance increases the incidence of perinatal maternal-infant complications, and so the definition and diagnostic criteria of gestational diabetes mellitus (GDM) have been changed. Therefore, in patients with GDM and pregnant women with diabetes mellitus, even stricter glycemic control than before is required to reduce the incidence of perinatal maternal-infant complications. Strict glycemic control cannot be attained without an indicator of glycemic control; this review proposes a reliable indicator. The gold standard indicator of glycemic control in patients with diabetes mellitus is hemoglobin A1c (HbA1c); however, we have demonstrated that HbA1c does not reflect glycemic control accurately during pregnancy because of iron deficiency. It has also become clear that glycated albumin, another indicator of glycemic control, is not influenced by iron deficiency and therefore might be a better indicator of glycemic control in patients with GDM and pregnant women with diabetes mellitus. However, large-population epidemiological studies are necessary in order to confirm our proposal. Here, we outline the most recent findings about the indicators of glycemic control during pregnancy including fructosamine and 1,5-anhydroglucitol.     

100g口服葡萄糖耐量试验与妊娠糖尿病

目的探讨妊娠糖尿病(GDM)孕妇100g口服糖耐量试验(OGTT)的血糖水平并评价能否将抽血4次减为3次。方法回顾性分析2003年1月至2004年12月本院妇产科出院的、经50g OGTT阳性(服糖后1h血糖≥7.8mmol/L)后行100g OGTT、按照美国国家糖尿病数据组(NDDG)标准诊断的115例GDM患者的100 g OGTT血糖水平。结果如果不取空腹血糖值,将有2例(1.7%)GDM孕妇被漏诊;分别略去餐后1、2和3h的血糖值,依次有42例(36.5%)、63例(54.8%)和36例(31.3%)孕妇被漏诊。结论省略餐后1、2或3h任何一个时点的血糖值都将出现较高的GDM漏诊率。目前资料显示,不论采用75 g或100g OGTT,尚不能将试验时间由3h简化为2h;而诊断标准是沿用NDDG还是采用美国糖尿病学会(ADA)的标准,有待进一步行大规模的前瞻性研究。     

Current progress in metabolomics of gestational diabetes mellitus

Gestational diabetes mellitus (GDM) is one of the most common metabolic disorders of pregnancy and can cause short- and long-term adverse effects in both pregnant women and their offspring. However, the etiology and pathogenesis of GDM are still unclear. As a metabolic disease, GDM is well suited to metabolomics study, which can monitor the changes in small molecular metabolites induced by maternal stimuli or perturbations in real time. The application of metabolomics in GDM can be used to discover diagnostic biomarkers, evaluate the prognosis of the disease, guide the application of diet or drugs, evaluate the curative effect, and explore the mechanism. This review provides comprehensive documentation of metabolomics research methods and techniques as well as the current progress in GDM research. We anticipate that the review will contribute to identifying gaps in the current knowledge or metabolomics technology, provide evidence-based information, and inform future research directions in GDM.     

Metabonomics fingerprint of volatile organic compounds in serum and urine of pregnant women with gestational diabetes mellitus

BACKGROUNDGestational diabetes mellitus (GDM) is a metabolic disease with an increasing annual incidence rate. Our previous observational study found that pregnant women with GDM had mild cognitive decline.AIMTo analyze the changes in metabonomics in pregnant women with GDM and explore the mechanism of cognitive function decline. METHODSThirty GDM patients and 30 healthy pregnant women were analyzed. Solid-phase microextraction gas chromatography/mass spectrometry was used to detect organic matter in plasma and urine samples. Statistical analyses were conducted using principal component analysis and partial least squares discriminant analysis.RESULTSDifferential volatile metabolites in the serum of pregnant women with GDM included hexanal, 2-octen-1-ol, and 2-propanol. Differential volatile metabolites in the urine of these women included benzene, cyclohexanone, 1-hexanol, and phenol. Among the differential metabolites, the conversion of 2-propanol to acetone may further produce methylglyoxal. Therefore, 2-propanol may be a potential marker for serum methylglyoxal.CONCLUSION2-propanol may be a potential volatile marker to evaluate cognitive impairment in pregnant women with GDM.     

血管紧张素转换酶在肺损伤中作用的研究进展

背景 急性肺损伤(acute lung injury,ALI)/急性呼吸窘迫综合征(acute respiratory distress syndrome,ARDS)是一种炎性综合征,近年研究发现血管紧张素转换酶(angiotensin converting enzyme,ACE)在其发生发展过程中起着重要作用.目的 人们对于肾素血管紧张素系统(renin angiotensin system,RAS),特别是ACE在肺损伤中的作用研究日趋深入,有必要了解其研究现状和未来趋势. 内容 重点就近几年来国内外对ACE在各种原因导致的肺损伤中作用的研究作一综述. 趋向 血管紧张素转换酶抑制剂(angiotensin converting enzyme inhibitom,ACEI)和血管紧张素Ⅱ(angiotensinⅡ,ATⅡ)受体阻断剂在各种肺损伤中的应用已取得肯定成果,使人们对RAS和其在肺损伤中作用的认识不断加深.     

Attenuating type 2 diabetes with postpartum interventions following gestational diabetes mellitus

Women with a history of gestational diabetes should be screened during and after the postpartum period because of a high risk for developing type 2 diabetes mellitus. Although differences exist between guidelines practiced throughout various parts of the world, all recommend the use of cutoffs for fasting and/or post-load plasma glucose to diagnose diabetes or pre-diabetes. The use of these glycemic parameters could be optimized when a trend is observed, rather than considering them as isolated values at various time points. As the presence of insulin resistance and beta-cell dysfunction start before glycemic changes are evident, the estimation of insulin sensitivity and beta-cell function by Homeostatic Model Assessment is suggested for women who have additional risk factors for diabetes, such as obesity. Disease-modifying lifestyle intervention should be the first-line strategy to prevent or delay the onset of diabetes in women with a history of gestational diabetes mellitus. Intensive lifestyle interventions are designed to decrease caloric intake and increase physical activity in order to reduce body weight and fat, which will in turn reduce insulin resistance. This article also reviews unique problems of postpartum women, which should be considered when designing and implementing an intervention. Innovative “out of the box” thinking is appreciated, as continued adherence to a program is a challenge to both the women and the health care personnel who deal with them.