Introduction: Preeclampsia can lead to several maternal and perinatal adverse effects. There are few published data on the association between transmembrane serine protease 6 (TMPRSS6) gene polymorphism and preeclamps...Introduction: Preeclampsia can lead to several maternal and perinatal adverse effects. There are few published data on the association between transmembrane serine protease 6 (TMPRSS6) gene polymorphism and preeclampsia. Objective: To assess the association between TMPRSS6 gene polymorphism rs855791SNP in women with preeclampsia compared with healthy pregnant women. Method: A case-control study (60 women in each arm) was conducted at Saad Abuaela Maternity Hospital in Khartoum, Sudan. Sociodemographic and clinical data were gathered through a questionnaire. The participant was genotype for TMPRSS6 gene rs855791SNP using Polymerase Chain Reaction and Restriction Fragment Length Polymorphism (PCR-RFLP). The results were confirmed by DNA sequencing. Result: There was no significant difference in the median of age, parity, and body mass index. The distribution of the genotypes and alleles of TMPRSS6 rs855791 was consistent with the HWE. The overall TMPRSS6 rs855791 polymorphism was not significantly associated with preeclampsia. However, the proportion of heterozygotes (TC) was considerably higher in the women with preeclampsia (46.7%) than in the control group (23.3%) (p = 0.001;OR = 2.71;95% CI = 1.21 - 6.07). The proportion of homozygotes (TT) and T alleles was not significantly different between women with preeclampsia and the control group. Conclusion: The overall TMPRSS6 rs855791 polymorphism was not significantly associated with preeclampsia and healthy control.展开更多
目的:通过系统评价与Meta分析探索Ⅰ型血小板结合蛋白基序的解聚蛋白样金属蛋白酶7(ADAMTS7)基因rs3825807位点单核苷酸的多态性与冠心病发病风险的关联。方法:计算机检索PubMed, Web of Science, Cochrane Library,中国知网,万方,维普...目的:通过系统评价与Meta分析探索Ⅰ型血小板结合蛋白基序的解聚蛋白样金属蛋白酶7(ADAMTS7)基因rs3825807位点单核苷酸的多态性与冠心病发病风险的关联。方法:计算机检索PubMed, Web of Science, Cochrane Library,中国知网,万方,维普和中国生物医学数据库,以获取ADAMTS7基因rs3825807多态性与冠心病易感性的原始研究。检索时限均为建库至2019年12月6日。由两位研究者独立筛选文献、提取数据并评价纳入研究的偏倚风险后,采用RevMan 5.3软件进行Meta分析。结果:共纳入6个病例-对照研究,观察组包括4 989例病例,对照组包含5 471例。Meta分析结果显示,患者ADAMTS7基因rs3825807多态性与冠心病的发病风险增加有相关性(AA vs, GG:OR=21.07,95%CI:1.61~275.95,P=0.02;AG vs. GG:OR=6.80,95%CI:0.77~60.11,P=0.08;AA+AG vs. GG:OR=13.19,95%CI:1.09~158.97,P=0.04;AA vs. AG+GG:OR=2.39,95%CI:1.44~3.96,P=0.0007;A vs. G:OR=23.44,95%CI:8.19~67.10,P<0.00001)。结论:患者ADAMTS7基因rs3825807多态性是冠心病的发病风险因素之一。受纳入研究数量和质量限制,本研究需更多的高质量临床研究予以验证。展开更多
目的研究CYP1A1 SNPrs4646903在宁夏地区正常女性人群中的基因型频率和等位基因频率分布特征,并与国内其它人群进行比较,获得该位点人群的遗传学数据。方法应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术及测序分析对154例宁夏...目的研究CYP1A1 SNPrs4646903在宁夏地区正常女性人群中的基因型频率和等位基因频率分布特征,并与国内其它人群进行比较,获得该位点人群的遗传学数据。方法应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术及测序分析对154例宁夏地区汉族女性正常人的CYP1A1 SNP rs4646903分布进行测定,并利用χ2检验比较本地与中国各地人群基因频率分布差异。结果SNP rs4646903突变纯合子(CC基因型)、突变杂合子(TC基因型)和野生纯合子(TT基因型)在宁夏人群中的基因型频率分别为11.7%、47.4%、40.9%;SNP rs4646903T和C等位基因频率在宁夏人群中为64.6%、35.4%,其等位基因和基因型频率分布与中国广州人和河南人群的差异有统计学意义(P<0.05),但与其它各地的研究结果统计无差异。结论中国各地人群CYP1A1 SNP rs4646903基因型频率和等位基因频率分布不同,具有其特有的群体遗传学特征。展开更多
目的:探讨糖尿病易感与MTHFR SNP rs1801133基因多态性的相关性以及胰岛素抵抗2型糖尿病、空腹血糖以及体重指数(BMI)与糖尿病的相关性的关系。方法:荧光原位杂交法检测MTHFR SNP rs1801133基因多态性,研究基因多态性与糖尿病易感的相...目的:探讨糖尿病易感与MTHFR SNP rs1801133基因多态性的相关性以及胰岛素抵抗2型糖尿病、空腹血糖以及体重指数(BMI)与糖尿病的相关性的关系。方法:荧光原位杂交法检测MTHFR SNP rs1801133基因多态性,研究基因多态性与糖尿病易感的相关性、胰岛素患者体重指数、胰岛素抵抗合并高血压的关性。结果:BMI(kg/m^2)胰岛素抵抗组为27.9±6.5,对照组为23.8±1.9,差异显著(P<0.01);BMI及血糖浓度有一定关联,差异有显著性(P<0.05);与胰岛素抵抗合并高血压具有一定关联,差异有显著性(P<0.05)。治疗前rs1801133 TT基因型治疗前空腹血糖明显高于基因型,12.4±2.3、CC9.3±2.2差异有显著性(P<0.05),合并用药后血糖浓度具有关联,CT基因型血糖高于其他两个基因型,TT与CT基因型比较差异有显著性6.35±0.55,5.9±0.57,(P<0.05)。结论:高体重指数是糖尿病胰岛素抵抗的高度危险因素;MTHFR SNP rs1801133基因多态性可能与糖尿病易感及糖尿病合并高血压有关联;THFR SNP rs1801133基因多态性与胰岛素抵抗患者治疗前后血糖浓度有一定关联。展开更多
文摘Introduction: Preeclampsia can lead to several maternal and perinatal adverse effects. There are few published data on the association between transmembrane serine protease 6 (TMPRSS6) gene polymorphism and preeclampsia. Objective: To assess the association between TMPRSS6 gene polymorphism rs855791SNP in women with preeclampsia compared with healthy pregnant women. Method: A case-control study (60 women in each arm) was conducted at Saad Abuaela Maternity Hospital in Khartoum, Sudan. Sociodemographic and clinical data were gathered through a questionnaire. The participant was genotype for TMPRSS6 gene rs855791SNP using Polymerase Chain Reaction and Restriction Fragment Length Polymorphism (PCR-RFLP). The results were confirmed by DNA sequencing. Result: There was no significant difference in the median of age, parity, and body mass index. The distribution of the genotypes and alleles of TMPRSS6 rs855791 was consistent with the HWE. The overall TMPRSS6 rs855791 polymorphism was not significantly associated with preeclampsia. However, the proportion of heterozygotes (TC) was considerably higher in the women with preeclampsia (46.7%) than in the control group (23.3%) (p = 0.001;OR = 2.71;95% CI = 1.21 - 6.07). The proportion of homozygotes (TT) and T alleles was not significantly different between women with preeclampsia and the control group. Conclusion: The overall TMPRSS6 rs855791 polymorphism was not significantly associated with preeclampsia and healthy control.
文摘目的:通过系统评价与Meta分析探索Ⅰ型血小板结合蛋白基序的解聚蛋白样金属蛋白酶7(ADAMTS7)基因rs3825807位点单核苷酸的多态性与冠心病发病风险的关联。方法:计算机检索PubMed, Web of Science, Cochrane Library,中国知网,万方,维普和中国生物医学数据库,以获取ADAMTS7基因rs3825807多态性与冠心病易感性的原始研究。检索时限均为建库至2019年12月6日。由两位研究者独立筛选文献、提取数据并评价纳入研究的偏倚风险后,采用RevMan 5.3软件进行Meta分析。结果:共纳入6个病例-对照研究,观察组包括4 989例病例,对照组包含5 471例。Meta分析结果显示,患者ADAMTS7基因rs3825807多态性与冠心病的发病风险增加有相关性(AA vs, GG:OR=21.07,95%CI:1.61~275.95,P=0.02;AG vs. GG:OR=6.80,95%CI:0.77~60.11,P=0.08;AA+AG vs. GG:OR=13.19,95%CI:1.09~158.97,P=0.04;AA vs. AG+GG:OR=2.39,95%CI:1.44~3.96,P=0.0007;A vs. G:OR=23.44,95%CI:8.19~67.10,P<0.00001)。结论:患者ADAMTS7基因rs3825807多态性是冠心病的发病风险因素之一。受纳入研究数量和质量限制,本研究需更多的高质量临床研究予以验证。
文摘目的研究CYP1A1 SNPrs4646903在宁夏地区正常女性人群中的基因型频率和等位基因频率分布特征,并与国内其它人群进行比较,获得该位点人群的遗传学数据。方法应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术及测序分析对154例宁夏地区汉族女性正常人的CYP1A1 SNP rs4646903分布进行测定,并利用χ2检验比较本地与中国各地人群基因频率分布差异。结果SNP rs4646903突变纯合子(CC基因型)、突变杂合子(TC基因型)和野生纯合子(TT基因型)在宁夏人群中的基因型频率分别为11.7%、47.4%、40.9%;SNP rs4646903T和C等位基因频率在宁夏人群中为64.6%、35.4%,其等位基因和基因型频率分布与中国广州人和河南人群的差异有统计学意义(P<0.05),但与其它各地的研究结果统计无差异。结论中国各地人群CYP1A1 SNP rs4646903基因型频率和等位基因频率分布不同,具有其特有的群体遗传学特征。
文摘目的:探讨糖尿病易感与MTHFR SNP rs1801133基因多态性的相关性以及胰岛素抵抗2型糖尿病、空腹血糖以及体重指数(BMI)与糖尿病的相关性的关系。方法:荧光原位杂交法检测MTHFR SNP rs1801133基因多态性,研究基因多态性与糖尿病易感的相关性、胰岛素患者体重指数、胰岛素抵抗合并高血压的关性。结果:BMI(kg/m^2)胰岛素抵抗组为27.9±6.5,对照组为23.8±1.9,差异显著(P<0.01);BMI及血糖浓度有一定关联,差异有显著性(P<0.05);与胰岛素抵抗合并高血压具有一定关联,差异有显著性(P<0.05)。治疗前rs1801133 TT基因型治疗前空腹血糖明显高于基因型,12.4±2.3、CC9.3±2.2差异有显著性(P<0.05),合并用药后血糖浓度具有关联,CT基因型血糖高于其他两个基因型,TT与CT基因型比较差异有显著性6.35±0.55,5.9±0.57,(P<0.05)。结论:高体重指数是糖尿病胰岛素抵抗的高度危险因素;MTHFR SNP rs1801133基因多态性可能与糖尿病易感及糖尿病合并高血压有关联;THFR SNP rs1801133基因多态性与胰岛素抵抗患者治疗前后血糖浓度有一定关联。
