目的探讨西南地区雌激素受体α（estrogen receptorα,ERα）基因多态性与原因不明月经过少的关系。方法选择西南地区100例原因不明月经过少患者为实验组,100例正常月经者作为对照组。应用分子生物学的方法分析PvuⅡ、XbaⅠ限制性片段...目的探讨西南地区雌激素受体α（estrogen receptorα,ERα）基因多态性与原因不明月经过少的关系。方法选择西南地区100例原因不明月经过少患者为实验组,100例正常月经者作为对照组。应用分子生物学的方法分析PvuⅡ、XbaⅠ限制性片段长度多态性（restriction fragment length polymorphism,RFLP）。同时对人雌激素受体基因上游的短串联重复序列（short tandem repeat,STR）进行纯化、克隆和序列分析,观察ERα基因多态性基因型在实验组与对照组中的基因型分布。结果P基因型频率实验组为47.5%,对照组为30.5%,OR值1.810（95%CI=1.113-2.765）,P=0.012。实验组X基因型频率为20.5%,对照组为32.0%,OR值0.641（95%CI=0.361-0.898）,P=0.036；PvuⅡ和XbaⅠ限制性片段长度多态性在两组中均呈多态性分布。病例组TA13等位基因频率高于对照组,差异有显著性（P=0.006）,TA15等位基因频率低于对照组,差异有显著性（P=0.033）。结论ERα基因多态性与原因不明月经过少有关,P等位基因可能是其危险因素,X等位基因可能是其保护因素,TA13等位基因可能是其危险因素,TA15等位基因可能是其保护因素。展开更多
Several studies have investigated the association between CYP2C19 polymorphism and clinical outcomes of patients treated with clopidogrel, but few have noticed the difference in association between Westerners and Asia...Several studies have investigated the association between CYP2C19 polymorphism and clinical outcomes of patients treated with clopidogrel, but few have noticed the difference in association between Westerners and Asians. We searched MEDLINE, EMBASE and Cochrane Library database and conducted a systematic review and meta-analysis. Thirty-six studies involving 44 655 patients with coronary artery disease（CAD） treated with clopidogrel were included, of which more than 68% had undergone percutaneous coronary intervention（PCI）. The primary outcome of our interest was the recurrence of major adverse cardiovascular events（MACE） in those CAD patients. Firstly, we found that the distribution of reduced-function CYP2C19 allele varied between Westerners and Asians. Among Asians, 1 and 2 reduced-function CYP2C19 mutant allele carriers accounted for 42.5% and 10%, respectively. While among Westerners, 1 and 2 reduced-function CYP2C19 mutant allele carriers accounted for 25.5% and 2.4%, respectively. Secondly, the impact of CYP2C19 polymorphism on clinical outcomes of patients treated with clopidogrel varied with races. Among Asians, only 2 reduced-function CYP2C19 mutant allele carriers had the reduced effect of clopidogrel. And the reduced effect was significant only after the 30 th day of treatment. While among Westerners, both 1 and 2 reduced-function CYP2C19 allele carriers had the reduced effect, and it mainly occurred within the first 30 days. Thirdly, the safety of clopidogrel was almost the same among races. Reduced-function allele non-carriers had higher risk for total bleeding but did not have higher risk for major bleeding. It is suggested that CYP2C19 polymorphism affects the efficacy of clopidogrel differently among Westerners and Asians.展开更多
文摘目的探讨西南地区雌激素受体α（estrogen receptorα,ERα）基因多态性与原因不明月经过少的关系。方法选择西南地区100例原因不明月经过少患者为实验组,100例正常月经者作为对照组。应用分子生物学的方法分析PvuⅡ、XbaⅠ限制性片段长度多态性（restriction fragment length polymorphism,RFLP）。同时对人雌激素受体基因上游的短串联重复序列（short tandem repeat,STR）进行纯化、克隆和序列分析,观察ERα基因多态性基因型在实验组与对照组中的基因型分布。结果P基因型频率实验组为47.5%,对照组为30.5%,OR值1.810（95%CI=1.113-2.765）,P=0.012。实验组X基因型频率为20.5%,对照组为32.0%,OR值0.641（95%CI=0.361-0.898）,P=0.036；PvuⅡ和XbaⅠ限制性片段长度多态性在两组中均呈多态性分布。病例组TA13等位基因频率高于对照组,差异有显著性（P=0.006）,TA15等位基因频率低于对照组,差异有显著性（P=0.033）。结论ERα基因多态性与原因不明月经过少有关,P等位基因可能是其危险因素,X等位基因可能是其保护因素,TA13等位基因可能是其危险因素,TA15等位基因可能是其保护因素。
基金supported by grants from National Natural Science Foundation of China(Nos.81371311 and 81101905)New Century Excellent Talents in University of China(No.NCET-10-0406)
文摘Several studies have investigated the association between CYP2C19 polymorphism and clinical outcomes of patients treated with clopidogrel, but few have noticed the difference in association between Westerners and Asians. We searched MEDLINE, EMBASE and Cochrane Library database and conducted a systematic review and meta-analysis. Thirty-six studies involving 44 655 patients with coronary artery disease（CAD） treated with clopidogrel were included, of which more than 68% had undergone percutaneous coronary intervention（PCI）. The primary outcome of our interest was the recurrence of major adverse cardiovascular events（MACE） in those CAD patients. Firstly, we found that the distribution of reduced-function CYP2C19 allele varied between Westerners and Asians. Among Asians, 1 and 2 reduced-function CYP2C19 mutant allele carriers accounted for 42.5% and 10%, respectively. While among Westerners, 1 and 2 reduced-function CYP2C19 mutant allele carriers accounted for 25.5% and 2.4%, respectively. Secondly, the impact of CYP2C19 polymorphism on clinical outcomes of patients treated with clopidogrel varied with races. Among Asians, only 2 reduced-function CYP2C19 mutant allele carriers had the reduced effect of clopidogrel. And the reduced effect was significant only after the 30 th day of treatment. While among Westerners, both 1 and 2 reduced-function CYP2C19 allele carriers had the reduced effect, and it mainly occurred within the first 30 days. Thirdly, the safety of clopidogrel was almost the same among races. Reduced-function allele non-carriers had higher risk for total bleeding but did not have higher risk for major bleeding. It is suggested that CYP2C19 polymorphism affects the efficacy of clopidogrel differently among Westerners and Asians.
