目的探讨α2A肾上腺素能受体(ADRA2A)-1291C>G和胆囊收缩素受体1(CCK1R)-779T>C的多态性与肠易激综合征(irritable bowel syndrome,IBS)的关系。方法利用PubMed、Embase、ISI科学网和万方数据库的在线网站,在不限制语言的情况下,...目的探讨α2A肾上腺素能受体(ADRA2A)-1291C>G和胆囊收缩素受体1(CCK1R)-779T>C的多态性与肠易激综合征(irritable bowel syndrome,IBS)的关系。方法利用PubMed、Embase、ISI科学网和万方数据库的在线网站,在不限制语言的情况下,检索1996年6月至2019年5月的相关文献。结果ADRA2A-1291C>G的C等位基因和CCK1R-779T>C的T等位基因与IBS发病风险的增加密切相关。亚组分析表明,ADRA2A-1291C>G增加了显性模型中IBS-C(CC vs GG+CG:OR=1.38,95%CI:1.00~1.90)和IBS-D(CC vs GG+CG:OR=1.50,95%CI:1.06~2.14)的风险。结论ADRA2A-1291C>G的C等位基因与CCK1R-779T>C的T等位基因密切相关,提示IBS的危险性增加。为了验证其关联性,还需要更大的样本进行进一步的研究。展开更多
Objective:To investigate the frequency of-786T>C variant in endothelial nitric oxide synthase(eNOS)gene promoter in Iranian women with recurrent pregnancy loss.Methods:Blood samples were obtained from 100 unrelated...Objective:To investigate the frequency of-786T>C variant in endothelial nitric oxide synthase(eNOS)gene promoter in Iranian women with recurrent pregnancy loss.Methods:Blood samples were obtained from 100 unrelated women affected by recurrent pregnancy loss and 100 unaffected women as the controls.Genomic DNA was extracted and-786T>C polymorphism in eNOS gene promoter was investigated by PCR-RFLP method.Statistical analyses and Hardy-Weinberg equilibrium in the groups of patients and controls were performed by Chi-square test and SPSS standard software(Version 21).Results:The frequency of homozygous TT was 40%in cases and 46%in the control group;the frequency of CC was 7%in cases and 5%in the control group;frequency heterozygote TC was 53%in cases and 49%in the control group.Genotype frequencies between the two groups showed no significant differences(P>0.05).Conclusions:The-786T>C polymorphism is not more frequent in recurrent pregnancy loss in this population.展开更多
Objectives The association of peroxisome prolif-erator-activated receptor delta(PPARD)+294T】C polymorphism and serum lipid levels is inconsistent in several previous studies.Bai Ku Yao is an isolated association of P...Objectives The association of peroxisome prolif-erator-activated receptor delta(PPARD)+294T】C polymorphism and serum lipid levels is inconsistent in several previous studies.Bai Ku Yao is an isolated association of PPARD+294T】C(rs2016520)polymorphism and several environmental factors with serum lipid levels in the Guangxi Bai Ku Yao and Han populations.Methods A total of 609 subjects of Bai Ku Yao and 573 participants of Han Chinese were randomly selected from our previous stratified randomized cluster samples.Genotyping of the PPARD+294T】C polymorphism was performed by polymerase chain reaction and restriction fragment length polymorphism combined with gel electrophoresis,and then confirmed by direct sequencing.Results The levels of serum total cholesterol(TC),high-density lipoprotein cholesterol(HDL-C),apolipoprotein(Apo)AI and ApoB were lower in Bai Ku Yao than in Han(P【0.001 for all).The frequency of T and C alleles was 77.50%and 22.50%in Bai Ku Yao,and 72.43%and 27.57%in Han(P【0.01);respectively.The frequency of TT,TC and CC genotypes was 60.59%,33.83%and 5.53%in Bai Ku Yao,and 52.18%,40.50%and 7.32%in Han(P【0.05);respectively.The levels of LDL-C,ApoB and the ratio of ApoAI to ApoB in Bai Ku Yao were different among the three genotypes in females but not in males(P【0.05 for all).The subjects with TT and TC genotypes had lower serum LDL-C and ApoB levels and higher the ratio of ApoAI to ApoB than the CC genotype in females.The levels of TC and ApoB in the total Han population were different among the three genotypes(P【0.05 for all).The C allele carriers had higher serum TC and ApoB levels than the C allele noncarriers.When serum lipid levels were analyzed according to sex,the difference in serum TC levels in Han was significant in males(P【0.01)but not in females,whereas the difference in serum ApoB levels was significant in females(P【0.05)but not in males.Serum TC and ApoB levels were correlated with genotypes in Han(P【0.05 for each)but not in Bai Ku Yao.Serum lipid parameters were also correlated with sex,age,body massindex,alcohol consumption,cigarette smoking,and blood pressure in both ethnic groups.Conclusions These results suggest that the association of PPARD+294T】C polymorphism and serum lipid levels is different between the Bai Ku Yao and Han populations.The discrepancy between the two ethnic groups might partly result from different PPARD+294T】C polymorphism or PPARD gene-enviromental interactions,subgroup of the Yao minority in China.展开更多
目的探讨淋巴细胞特异性蛋白1（lymphocyte-specific protein 1,LSP1）基因rs3817198 T〉C多态性与乳腺癌易感性的关系。方法检索Pubmed,Embase和Web of Science数据库,对提取的12个研究结果进行Meta分析。结果 Meta分析结果表明LSP1 rs...目的探讨淋巴细胞特异性蛋白1（lymphocyte-specific protein 1,LSP1）基因rs3817198 T〉C多态性与乳腺癌易感性的关系。方法检索Pubmed,Embase和Web of Science数据库,对提取的12个研究结果进行Meta分析。结果 Meta分析结果表明LSP1 rs3817198基因多态性与乳腺癌风险相关（OR=1.07,95%CI 1.05~1.10,P=5.38×10-11）。在所有模型（包括共显性模型、显性模型和隐形模型）中排出GWAS研究后两者也存在相关性。种族和遗传亚组分层分析表明欧洲人群组（OR=1.10;95%CI 1.06~1.14;P=4.19×10-7）和遗传型乳腺癌人群（OR=1.07,95%CI 1.05-1.10,P=1.27×10-8）该位点多态性增加癌症风险。但非洲人群组、亚洲人群组和散发型乳腺癌人群的P值未达到GWAS显著水平。结论 Meta分析表明LSP1基因rs3817198 T〉C多态性可能增加乳腺癌的风险。展开更多
文摘目的探讨α2A肾上腺素能受体(ADRA2A)-1291C>G和胆囊收缩素受体1(CCK1R)-779T>C的多态性与肠易激综合征(irritable bowel syndrome,IBS)的关系。方法利用PubMed、Embase、ISI科学网和万方数据库的在线网站,在不限制语言的情况下,检索1996年6月至2019年5月的相关文献。结果ADRA2A-1291C>G的C等位基因和CCK1R-779T>C的T等位基因与IBS发病风险的增加密切相关。亚组分析表明,ADRA2A-1291C>G增加了显性模型中IBS-C(CC vs GG+CG:OR=1.38,95%CI:1.00~1.90)和IBS-D(CC vs GG+CG:OR=1.50,95%CI:1.06~2.14)的风险。结论ADRA2A-1291C>G的C等位基因与CCK1R-779T>C的T等位基因密切相关,提示IBS的危险性增加。为了验证其关联性,还需要更大的样本进行进一步的研究。
文摘Objective:To investigate the frequency of-786T>C variant in endothelial nitric oxide synthase(eNOS)gene promoter in Iranian women with recurrent pregnancy loss.Methods:Blood samples were obtained from 100 unrelated women affected by recurrent pregnancy loss and 100 unaffected women as the controls.Genomic DNA was extracted and-786T>C polymorphism in eNOS gene promoter was investigated by PCR-RFLP method.Statistical analyses and Hardy-Weinberg equilibrium in the groups of patients and controls were performed by Chi-square test and SPSS standard software(Version 21).Results:The frequency of homozygous TT was 40%in cases and 46%in the control group;the frequency of CC was 7%in cases and 5%in the control group;frequency heterozygote TC was 53%in cases and 49%in the control group.Genotype frequencies between the two groups showed no significant differences(P>0.05).Conclusions:The-786T>C polymorphism is not more frequent in recurrent pregnancy loss in this population.
文摘Objectives The association of peroxisome prolif-erator-activated receptor delta(PPARD)+294T】C polymorphism and serum lipid levels is inconsistent in several previous studies.Bai Ku Yao is an isolated association of PPARD+294T】C(rs2016520)polymorphism and several environmental factors with serum lipid levels in the Guangxi Bai Ku Yao and Han populations.Methods A total of 609 subjects of Bai Ku Yao and 573 participants of Han Chinese were randomly selected from our previous stratified randomized cluster samples.Genotyping of the PPARD+294T】C polymorphism was performed by polymerase chain reaction and restriction fragment length polymorphism combined with gel electrophoresis,and then confirmed by direct sequencing.Results The levels of serum total cholesterol(TC),high-density lipoprotein cholesterol(HDL-C),apolipoprotein(Apo)AI and ApoB were lower in Bai Ku Yao than in Han(P【0.001 for all).The frequency of T and C alleles was 77.50%and 22.50%in Bai Ku Yao,and 72.43%and 27.57%in Han(P【0.01);respectively.The frequency of TT,TC and CC genotypes was 60.59%,33.83%and 5.53%in Bai Ku Yao,and 52.18%,40.50%and 7.32%in Han(P【0.05);respectively.The levels of LDL-C,ApoB and the ratio of ApoAI to ApoB in Bai Ku Yao were different among the three genotypes in females but not in males(P【0.05 for all).The subjects with TT and TC genotypes had lower serum LDL-C and ApoB levels and higher the ratio of ApoAI to ApoB than the CC genotype in females.The levels of TC and ApoB in the total Han population were different among the three genotypes(P【0.05 for all).The C allele carriers had higher serum TC and ApoB levels than the C allele noncarriers.When serum lipid levels were analyzed according to sex,the difference in serum TC levels in Han was significant in males(P【0.01)but not in females,whereas the difference in serum ApoB levels was significant in females(P【0.05)but not in males.Serum TC and ApoB levels were correlated with genotypes in Han(P【0.05 for each)but not in Bai Ku Yao.Serum lipid parameters were also correlated with sex,age,body massindex,alcohol consumption,cigarette smoking,and blood pressure in both ethnic groups.Conclusions These results suggest that the association of PPARD+294T】C polymorphism and serum lipid levels is different between the Bai Ku Yao and Han populations.The discrepancy between the two ethnic groups might partly result from different PPARD+294T】C polymorphism or PPARD gene-enviromental interactions,subgroup of the Yao minority in China.
