目的探索SLC2A9基因R265H位点突变与痛风易感性间的关联。方法检索6个电子数据库,获得SLC2A9基因R265H位点与痛风相关的文献,对纳入文献进行质量评价后,运用RevMan 5.0和Stata 11.0软件进行Meta分析。结果共纳入文献6篇,包含5 182例参...目的探索SLC2A9基因R265H位点突变与痛风易感性间的关联。方法检索6个电子数据库,获得SLC2A9基因R265H位点与痛风相关的文献,对纳入文献进行质量评价后,运用RevMan 5.0和Stata 11.0软件进行Meta分析。结果共纳入文献6篇,包含5 182例参与者（痛风病人1 999例,正常对照3 183例）。经Meta分析发现,SLC2A9基因rs3733591位点SNPs与痛风易感性在TT vs CC＋CT和CC vs TT＋CT模型及C等位基因中存在统计学关联,在CT vs TT＋CC模型中无统计学差异（TT vs CC＋CT：OR=0.71,95%CI=0.61～0.84,P〈0.000 1;CC vs TT＋CT：OR=1.23,95%CI=1.06～1.42,P=0.006;C等位基因：OR=2.39,95%CI=1.98～2.89,P〈0.000 1;CT vs TT＋CC：OR=1.06,95%CI=0.94～1.20,P=0.36）。亚组分析发现,仅TT vs CC＋CT和CC vs TT＋CT模型在亚洲人群中有统计学差异,其余均无统计学差异（TT vs CC＋CT：OR=0.66,95%CI=0.55～0.80,P〈0.000 1;CC vs TT＋CT：OR=1.45,95%CI=1.19～1.77,P=0.003）。纳入研究结果间无异质性及发表偏倚。结论 SLC2A9基因rs3733591位点多态性与痛风易感性在亚洲人群中可能存在关联,且C等位基因可能增加患痛风的风险。展开更多
This study aimed to test the effects of five single nucleotide polymorphisms within SLC2A9 on uric acid level in a special ethnic population,the Uygurs in Xinjiang,China.According to our inclusion and exclusion criter...This study aimed to test the effects of five single nucleotide polymorphisms within SLC2A9 on uric acid level in a special ethnic population,the Uygurs in Xinjiang,China.According to our inclusion and exclusion criteria,Uygur adults from Xinjiang constituted the study population.There were 1053 Uygur adults with hyperuricemia and 1373 normal Uygur adults who served as controls.Five single nucleotide polymorphisms within SLC2A9(rs938557,rs7679916,rs7349721,rsl3101785,and rs 13137343)were selected with the HapMap dataset and TaqMan assays.We found that,in normouricemia group,rs938557 was significantly correlated with uric acid(β=11.39±3.74,P=0.0024)adjusting for age,gender and BMI;rs7679916 and rsl3137343 were marginally associated with uric acid concentration(β=5.77±3.O9,P=0.0626;p=-5.99±3.08,P=0.0520).In the hyperuricemia group,no SNP was found to possibly influence uric acid concentration.None of these SNPs showed significant association with hyperuricemia after controlling for age,gender and BMI.There were significant or marginal correlations between certain single nucleotide polymorphisms in the SLC2A9 region and uric acid concentration in Uygur normouricemia samples.In turn,some of these single nucleotide polymorphisms in SLC2A9 may increase the risk of hyperuricemia.展开更多
Background:Epidemiological studies showed that higher plasma urate was associated with lower risk for Parkinson’s disease(PD)and slower disease progression.Recent genome-wide association studies(GWAS)consistently sho...Background:Epidemiological studies showed that higher plasma urate was associated with lower risk for Parkinson’s disease(PD)and slower disease progression.Recent genome-wide association studies(GWAS)consistently showed that several single nucleotide polymorphisms(SNPs)in the solute carrier family 2 member 9 gene(SLC2A9)were associated with plasma urate concentration and the risk of gout.Methods:We conducted a case–control study to examine twelve tag SNPs of the SLC2A9 gene in relation to PD among 788 cases and 911 controls of European ancestry.Odds ratios(OR)and 95%confidence intervals(CI)were derived from logistic regression models,adjusting for age,sex,smoking and caffeine consumption.Results:These SNPs were all in linkage disequilibrium(R^(2)>0.7).None of them were associated with PD risk.Among women,however,there was a suggestion that the presence of the minor allele of one SNP(rs7442295)was related to a small increase in PD risk[OR(95%CI)=1.48(1.01-2.16)].Conclusion:This study provides little support for genetic variations of SLC2A9 and PD risk.展开更多
文摘目的探索SLC2A9基因R265H位点突变与痛风易感性间的关联。方法检索6个电子数据库,获得SLC2A9基因R265H位点与痛风相关的文献,对纳入文献进行质量评价后,运用RevMan 5.0和Stata 11.0软件进行Meta分析。结果共纳入文献6篇,包含5 182例参与者（痛风病人1 999例,正常对照3 183例）。经Meta分析发现,SLC2A9基因rs3733591位点SNPs与痛风易感性在TT vs CC＋CT和CC vs TT＋CT模型及C等位基因中存在统计学关联,在CT vs TT＋CC模型中无统计学差异（TT vs CC＋CT：OR=0.71,95%CI=0.61～0.84,P〈0.000 1;CC vs TT＋CT：OR=1.23,95%CI=1.06～1.42,P=0.006;C等位基因：OR=2.39,95%CI=1.98～2.89,P〈0.000 1;CT vs TT＋CC：OR=1.06,95%CI=0.94～1.20,P=0.36）。亚组分析发现,仅TT vs CC＋CT和CC vs TT＋CT模型在亚洲人群中有统计学差异,其余均无统计学差异（TT vs CC＋CT：OR=0.66,95%CI=0.55～0.80,P〈0.000 1;CC vs TT＋CT：OR=1.45,95%CI=1.19～1.77,P=0.003）。纳入研究结果间无异质性及发表偏倚。结论 SLC2A9基因rs3733591位点多态性与痛风易感性在亚洲人群中可能存在关联,且C等位基因可能增加患痛风的风险。
基金the National Natural Science Foundation of China(No.81560153 and No.81760169)the Natural Science Foundation of the Xinjiang Uygur Autonomous Region(No.2017D01C234)the Open Project of Shanghai Six People,Hospital and Shanghai Key Laboratory of Diabetes Mellitus(No.SHKLD-KF-1502).
文摘This study aimed to test the effects of five single nucleotide polymorphisms within SLC2A9 on uric acid level in a special ethnic population,the Uygurs in Xinjiang,China.According to our inclusion and exclusion criteria,Uygur adults from Xinjiang constituted the study population.There were 1053 Uygur adults with hyperuricemia and 1373 normal Uygur adults who served as controls.Five single nucleotide polymorphisms within SLC2A9(rs938557,rs7679916,rs7349721,rsl3101785,and rs 13137343)were selected with the HapMap dataset and TaqMan assays.We found that,in normouricemia group,rs938557 was significantly correlated with uric acid(β=11.39±3.74,P=0.0024)adjusting for age,gender and BMI;rs7679916 and rsl3137343 were marginally associated with uric acid concentration(β=5.77±3.O9,P=0.0626;p=-5.99±3.08,P=0.0520).In the hyperuricemia group,no SNP was found to possibly influence uric acid concentration.None of these SNPs showed significant association with hyperuricemia after controlling for age,gender and BMI.There were significant or marginal correlations between certain single nucleotide polymorphisms in the SLC2A9 region and uric acid concentration in Uygur normouricemia samples.In turn,some of these single nucleotide polymorphisms in SLC2A9 may increase the risk of hyperuricemia.
基金This study was supported by the intramural research program of the NIH,the National Institute of Environmental Health Sciences(Z01-ES-101986)NIH extramural grant to Dr.Huang(NS06722).
文摘Background:Epidemiological studies showed that higher plasma urate was associated with lower risk for Parkinson’s disease(PD)and slower disease progression.Recent genome-wide association studies(GWAS)consistently showed that several single nucleotide polymorphisms(SNPs)in the solute carrier family 2 member 9 gene(SLC2A9)were associated with plasma urate concentration and the risk of gout.Methods:We conducted a case–control study to examine twelve tag SNPs of the SLC2A9 gene in relation to PD among 788 cases and 911 controls of European ancestry.Odds ratios(OR)and 95%confidence intervals(CI)were derived from logistic regression models,adjusting for age,sex,smoking and caffeine consumption.Results:These SNPs were all in linkage disequilibrium(R^(2)>0.7).None of them were associated with PD risk.Among women,however,there was a suggestion that the presence of the minor allele of one SNP(rs7442295)was related to a small increase in PD risk[OR(95%CI)=1.48(1.01-2.16)].Conclusion:This study provides little support for genetic variations of SLC2A9 and PD risk.
