This paper aims to determine the possible role of estrogen receptor-β （ERβ） gene Rsal polymorphism on sperm fertility and early embryonic development in humans. Three groups of Chinese men were recruited： in vitr...This paper aims to determine the possible role of estrogen receptor-β （ERβ） gene Rsal polymorphism on sperm fertility and early embryonic development in humans. Three groups of Chinese men were recruited： in vitro fertilization （IVF） group, including 374 couples who underwent conventional IVF; intracytoplasmic sperm injection （ICSI） group, including 294 couples who underwent an ICSI procedure using ejaculated sperm; and azoospermic group, consisting of 197 couples who underwent ICSI using either testis or epididymis sperm. Rsal polymorphism in the ERβ gene was detected by polymerase chain reaction （PCR）-restriction fragment length polymorphism technique; fertilization and high-quality embryo rates were evaluated for each group. In each group, no significant differences were found in the overall rates of fertilization and high-quality embryos among GG, AG and AA genotypes. However, the proportion of cycles possessing a satisfactory high-quality embryo rate with the AA genotype was significantly lower than that in the wild-type GG genotype from each group. These results demonstrated that sperm possessing the ERβ RsalA genotype may have reduced fertilization ability and decreased early embryonic developmental potential, which could directly or indirectly contribute to the low fertilization rate and early embryonic developmental arrest in some cases.展开更多
Objectives Peroxisome proliferator-activated receptor-γ2（PPARγ2） variant Pro12Ala was demonstrated with risk of coronary heart disease （CHD） and type 2 diabetes mellitus （T2DM）. Another variant C-689T in the p...Objectives Peroxisome proliferator-activated receptor-γ2（PPARγ2） variant Pro12Ala was demonstrated with risk of coronary heart disease （CHD） and type 2 diabetes mellitus （T2DM）. Another variant C-689T in the promoter was reported with lower receptor activity but lack of reports on association between C-689T and CHD or T2DM. Methods A total of 351 subjects without CHD and T2DM （controls） and 125 patients with CHD and T2DM （cases） were enrolled in our case-control study. Polymerase chain reaction-restricted fragments length polymorphism （PCR-RFLP） was used to detect Pro12Ala and C-689T polymorphisms. And effects on CHD merged with T2DM of the two polymorphisms were analyzed in individual and haplotype analyses. Results In the study, Pro12Pro, Pro12Ala and Ala12Ala genotype frequencies were 92.9%, 6.8% and 0.3% in controls; 92.8%, 7.2% and 0.0% in cases respectively whilst CC, CT and TT genotype frequencies were 93.4%, 6.3% and 0.3% in controls; 92.8%, 7.2% and 0.0% in cases respectively. Pro12Ala and C-689T polymorphisms were in strong linkage disequilibrium （D＇=0.81, P=0.000） and the observed haplotype frequency of Pro-C, Pro-T, Ala-C and Ala-T was 0.957, 0.006, 0.008 and 0.028 respectively. No significant associations were detected between the two polymorphisms and CHD merged with T2DM in either individual or haplotype analyses. In subjects with obesity [body mass index （BMI）≥25 kg/m^2], we found that both Pro12Ala and C-689T polymorphisms were associated with BMI. In haplotype analyses, we found that Pro12Ala and C-689T haplotypes had associations with systolic blood pressure in total population, with BMI, waist circle and total cholesterol（TC） in obesity subgroup and with fasting blood glucose and TC in males. Conclusions PPARγ2 Pro12Ala and C-689T polymorphisms and haplotypes affect the profiles of CHD merged with T2DM in Chinese Han people.展开更多
[目的]探究Ⅲ型纤连蛋白域包含蛋白5(typeⅢfibronectin domain-containing protein 5,FNDC5)基因对藏猪低氧适应性的调控作用。[方法]以藏猪和大约克猪为实验动物,提取其耳组织DNA,分段扩增FNDC5基因的5′侧翼区、3′侧翼区和CDS区,测...[目的]探究Ⅲ型纤连蛋白域包含蛋白5(typeⅢfibronectin domain-containing protein 5,FNDC5)基因对藏猪低氧适应性的调控作用。[方法]以藏猪和大约克猪为实验动物,提取其耳组织DNA,分段扩增FNDC5基因的5′侧翼区、3′侧翼区和CDS区,测序后筛选单核苷酸多态性(SNPs)位点。采集实验猪心脏、肺脏组织,提取其RNA及总蛋白,采用实时荧光定量PCR(RT-qPCR)法检测FNDC5基因mRNA的表达量,采用Western blot法检测FNDC5蛋白的表达量。采集藏猪和大约克猪颈动脉血样各30头份,测定血液生理指标。将猪骨骼肌卫星细胞(PSMSC)分为常氧组(氧气体积分数21%)及体积分数5%和1%氧气组,常氧组又分为PGC-1α激活剂ZLN005添加组、PGC-1α抑制剂SR-18292添加组和空白对照组,培养后分别采用RT-qPCR和Western blot法检测FNDC5基因mRNA和蛋白的表达量。[结果]在FNDC5基因CDS区,2种猪未检测到SNPs位点;在5′侧翼区,2种猪有3个SNPs位点,分别为g.-118A>G、g.-790T>C和g.-931A>G;在3′侧翼区,大约克猪无SNP位点,藏猪有4个多态性位点(分别为g.46G>T、g.56G>C、g.517T>C和g.1028G>A)。这些SNPs可能是藏猪低氧适应性的重要调控位点。藏猪的白细胞数、红细胞数、血红蛋白质量浓度、红细胞压积、血小板计数、血小板压积指标极显著高于大约克猪(P<0.01),红细胞分布宽度变异系数极显著低于大约克猪(P<0.01),其他指标与大约克猪无显著差异,推测藏猪具有更强的低氧适应能力。藏猪心脏FNDC5基因和蛋白表达量极显著高于大约克猪,肺脏FNDC5基因表达量极显著高于大约克猪。在PSMSC中,FNDC5基因和蛋白的表达量均随着氧体积分数的降低而显著或极显著降低;PGC-1α激活剂ZLN005可极显著促进FNDC5基因的表达,抑制剂SR-18292可极显著抑制FNDC5基因的表达。[结论]FNDC5基因和部分血液生理指标可能与藏猪的低氧适应性相关;PGC-1α可正向调控FNDC5基因的表达。展开更多
文摘This paper aims to determine the possible role of estrogen receptor-β （ERβ） gene Rsal polymorphism on sperm fertility and early embryonic development in humans. Three groups of Chinese men were recruited： in vitro fertilization （IVF） group, including 374 couples who underwent conventional IVF; intracytoplasmic sperm injection （ICSI） group, including 294 couples who underwent an ICSI procedure using ejaculated sperm; and azoospermic group, consisting of 197 couples who underwent ICSI using either testis or epididymis sperm. Rsal polymorphism in the ERβ gene was detected by polymerase chain reaction （PCR）-restriction fragment length polymorphism technique; fertilization and high-quality embryo rates were evaluated for each group. In each group, no significant differences were found in the overall rates of fertilization and high-quality embryos among GG, AG and AA genotypes. However, the proportion of cycles possessing a satisfactory high-quality embryo rate with the AA genotype was significantly lower than that in the wild-type GG genotype from each group. These results demonstrated that sperm possessing the ERβ RsalA genotype may have reduced fertilization ability and decreased early embryonic developmental potential, which could directly or indirectly contribute to the low fertilization rate and early embryonic developmental arrest in some cases.
文摘Objectives Peroxisome proliferator-activated receptor-γ2（PPARγ2） variant Pro12Ala was demonstrated with risk of coronary heart disease （CHD） and type 2 diabetes mellitus （T2DM）. Another variant C-689T in the promoter was reported with lower receptor activity but lack of reports on association between C-689T and CHD or T2DM. Methods A total of 351 subjects without CHD and T2DM （controls） and 125 patients with CHD and T2DM （cases） were enrolled in our case-control study. Polymerase chain reaction-restricted fragments length polymorphism （PCR-RFLP） was used to detect Pro12Ala and C-689T polymorphisms. And effects on CHD merged with T2DM of the two polymorphisms were analyzed in individual and haplotype analyses. Results In the study, Pro12Pro, Pro12Ala and Ala12Ala genotype frequencies were 92.9%, 6.8% and 0.3% in controls; 92.8%, 7.2% and 0.0% in cases respectively whilst CC, CT and TT genotype frequencies were 93.4%, 6.3% and 0.3% in controls; 92.8%, 7.2% and 0.0% in cases respectively. Pro12Ala and C-689T polymorphisms were in strong linkage disequilibrium （D＇=0.81, P=0.000） and the observed haplotype frequency of Pro-C, Pro-T, Ala-C and Ala-T was 0.957, 0.006, 0.008 and 0.028 respectively. No significant associations were detected between the two polymorphisms and CHD merged with T2DM in either individual or haplotype analyses. In subjects with obesity [body mass index （BMI）≥25 kg/m^2], we found that both Pro12Ala and C-689T polymorphisms were associated with BMI. In haplotype analyses, we found that Pro12Ala and C-689T haplotypes had associations with systolic blood pressure in total population, with BMI, waist circle and total cholesterol（TC） in obesity subgroup and with fasting blood glucose and TC in males. Conclusions PPARγ2 Pro12Ala and C-689T polymorphisms and haplotypes affect the profiles of CHD merged with T2DM in Chinese Han people.
