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X-ray repair cross-complementing gene 1 Arg399Gln polymorphism and glioma risk among Asians A meta-analysis based on 2 326 cases and 3 610 controls

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Neural Regeneration Research 2012年第29期7卷 2313-2319页

作者： Liang Zhang Zhiqun Qiu Jiaohua Luo Weiqun Shu Department of Environmental Hygiene College of Preventive Medicine Third Military Medical University of Chinese PLA Chongqing 400037China

OBJECTIVE： Previous reports have demonstrated that X-ray repair cross-complementing gene 1 （XRCCl） Arg399GIn polymorphism is a possible risk factor for several cancers. Published data on the association of XRCCl Arg399GIn polymorphism with glioma susceptibility have generated conflicting results. This study is designed to precisely estimate the relationship. DATA RETRIEVAL： A computer-based online retrieval of Medline, EMBASE, OVID, Sciencedirect, and Chinese National Knowledge Infrastructure was performed to search papers regarding association of XRCC1 Arg399GIn polymorphisms with glioma published up to April 2012. SELECTION CRITERIA： Two investigators selected data independently. Meta analysis was then performed for the selected studies using STATA 11.0 software after strict selection. Heterogeneity test, sensitivity analysis and publication bias assessments were then conducted. MAIN OUTCOME MEASURES： Association of XRCCl Arg399GIn polymorphism with glioma risk. RESULTS： A total of nine case-controlled studies comprising 2 326 cases and 3 610 controls were selected for final analysis. The overall data failed to indicate a significant association of XRCCl Arg399GIn polymorphism with glioma risk （Gin/Gin vs. Arg/Arg： odds ratio （OR） = 1.11; 95% confidence interval （Cl） = 0.94-1.31; dominant model： OR = 1.06; 95%C/= 0.95-1.18; recessive model： OR = 1.04; 95%C/= 0.81-1.34）. However, subgroup analysis regarding ethnicity showed an increased risk among Asians （Gin/Gin vs. Arg/Arg OR = 1.40; 95%C/= 1.10-1.78; recessive model： Caucasians or mixed ethnicities. OR = 1.70; 95%Cl = 1.17-2.46; dominant mode OR = 1.46; 95%C/= 1.04-2.05） but not CONCLUSION： XRCCl Arg399GIn polymorphism might modify the susceptibility to glioma among Asians but not Caucasians. Further large and well-designed studies are needed to confirm this conclusion.

关键词： genetic association XRCC1 Arg399GIn glioma malignancy susceptibility meta analysis polymorphism risk case-controlled study database variation

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Association between the polymorphisms of interleukin-4, the interleukin-4 receptor gene and asthma

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Chinese Medical Journal 2013年第15期126卷 2943-2951页

作者： ZHU Ning GONG Yi CHEN Xiao-dong ZHANG Jing LONG Feng HE Jian XIA Jing-wen DONG Liang Fudan Univ Allergy Res Lab Inst Resp Dis Shanghai 200040 Peoples R China Fudan Univ Dept Resp Dis Huashan Hosp Shanghai 200040 Peoples R China

Background Interleukin-4 （IL4） is one of the most important cytokines involved in a variety of allergic disorders, particularly, asthma. A number of genetic epidemiological studies have identified an association between the gene polymorphisms of IL4 and interleukin-4 receptor （IL4R） and asthma in different populations. However, these studies have been inconsistent and inconclusive. The aim of this study was to investigate the association between the single nucleotide polymorphism （SNP） of IL-4, IL-4R and asthma risk in case-controlled studies using meta-analysis. Method A genetic model-free approach was used to perform the meta-analysis. Asthma （atopy status nondefined）, nonatopic and atopic asthma subgroups were separately analyzed. Next, the ethnic subgroup was analyzed. Heterogeneity and publication bias were also explored. Results Only two polymorphisms of IL4 （rs2243250 and rs2070874） and four polymorphisms of IL4R （rs1801275, rs1805011, rs1805010, and rs1805015） were included in the meta-analysis. Polymorphisms rs2243250 and rs2070874 of IL-4 and rs1801275 and rs1805011 of IL4R were associated with asthma. The overall odds ratio （OR） of rs2243250 in the CC versus TT＋TC genotypes was 0.84 （95% CI： 0.75-0.94）, and the Z-test for the overall effect was 3.0 （P=0.003）. We obtained significant results from this polymorphism in the Caucasian ethnicity and adult groups. However, the overall OR of rs1801275 for the GG＋AG versus AA genotype was 1.16 （95% CI： 1.00-1.35）, and the Z-test for the overall effect was 1.87 （P=0.06）. Moreover, significant results were only obtained from the sub-group analysis in Asians （P=0.02）. In the rs1805011 polymorphism of IL4R, the overall OR for the CC ＋AC versus AA genotypes was 0.39 （95% CI： 0.16-0.95）, and the Z-test for the overall effect was 2.08 （P=0.04）. Conclusions Both the IL4 and IL4R polymorphisms were associated with asthma. The rs2243250 polymorphism of IL4 was more important in the white and adult groups. Individuals who ca

关键词： interleukin-4 interleuMn-4 receptor asthma gene polymorphism case-controlled study meta-analysis

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Effectiveness of Alpha-Fetoprotein Variants L2 and L3 as Substitutes of Alpha-Fetoprotein in Screening for Fetal Trisomy 18

Effectiveness of Alpha-Fetoprotein Variants L2 and L3 as Sub...

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2019浙江省妇产科医师大会及妇产科学学术年会

作者： Yiming Chen Hao Wang Sha Lu Jin Mei Yixuan Yin Yanzhen Zhang Wen Zhang Jiejing Lian Min Wang Wensheng Hu Department of Prenatal diagnosis and screening center Hangzhou Women's Hospital (Hangzhou Maternity and Child Health Care Hospital) Department of Cell Biology and Medical Genetics School of MedicineZhejiang University

Objectives To evaluate the effectiveness of alpha-fetoprotein variants(AFP-L2,AFP-L3) for fetal screening of Trisomy 18 in place of alpha fetoprotein(AFP).Methods A case-control study,per the presence or absence of fetal Trisomy 18,was *** case group included 39 pregnant women diagnosed by karyotype analysis of amniotic fluid cells as bearing Trisomy 18 *** control group was randomly selected and included 48 pregnant women with clinically normal and healthy fetal *** serum AFP-L2 and AFP-L3 concentrations for the two groups of pregnant women were detected by enzyme-linked immunosorbent *** operating characteristic(ROC) curves were used to determine the optimal cutoff value,area under the curve(AUC),and assess the screening performance of AFP-L2 and *** The AFP-L2 and AFP-L3 concentrations in pregnant women with Trisomy 18 fetuses were 7.95±3.57 ng/mL(6.79 ～ 9.10 ng/mL),and 2.53±1.80 ng/mL(1.94 ～ 3.11 ng/mL),respectively,which was significantly higher than those of the control group(3.73±1.63 ng/mL [3.26 ～ 4.20],t=6.820,P<0.001,and 0.84±0.60 ng/mL [0.66 ～ 1.01],t=5.588,P<0.001,respectively).The AUC for AFP-L2 and AFP-L3 in screened Trisomy 18 fetuses was 0.848(95% CI:0.767-0.930,P < 0.001) and 0.806(95% CI:0.707-0.905,P < 0.001),*** optimal cutoff values of AFP-L2 and AFP-L3 for Trisomy 18 fetuses were determined to be 6.340 ng/mL and 1.705 ng/mL,*** corresponding sensitivity,specificity,and Youden index values were 0.615,1.000,0.615;0.6410,0.958,and 0.599,*** across multiple modeling methods showed that the highest AUC of screened Trisomy 18 fetuses(0.992 and 0.986) was yielded by AFP-L2 + AFP-L3 + free β-HCG,and AFP-L2 + free β-HCG,with 1.000 sensitivity indicated in both *** comparing the results of the two combined tests,it was shown that,when performed in parallel,the sensitivities of the four Trisomy 18 screening combinations were all *** the contro

关键词： pregnant women mid-pregnancy prenatal screening fetoprotein variant AFP-L2/AFP-L3 Trisomy 18. case-controlled study

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Effectiveness of Alpha-Fetoprotein Variants L2 and L3 as Substitutes of Alpha-Fetoprotein in Screening for Fetal Trisomy 18

Effectiveness of Alpha-Fetoprotein Variants L2 and L3 as Sub...

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2019长三角围产医学学术会议暨浙江省围产医学学术大会

Objectives To evaluate the effectiveness of alpha-fetoprotein variants(AFP-L2, AFP-L3) for fetal screening of Trisomy 18 in place of alpha fetoprotein(AFP).Methods A case-control study, per the presence or absence of fetal Trisomy 18, was conducted. The case group included 39 pregnant women diagnosed by karyotype analysis of amniotic fluid cells as bearing Trisomy 18 fetuses. The control group was randomly selected and included 48 pregnant women with clinically normal and healthy fetal development. The serum AFP-L2 and AFP-L3 concentrations for the two groups of pregnant women were detected by enzyme-linked immunosorbent assays. Receiver operating characteristic(ROC) curves were used to determine the optimal cutoff value, area under the curve(AUC), and assess the screening performance of AFP-L2 and *** The AFP-L2 and AFP-L3 concentrations in pregnant women with Trisomy 18 fetuses were 7.95±3.57 ng/mL(6.79 ～ 9.10 ng/mL), and 2.53±1.80 ng/mL(1.94 ～ 3.11 ng/mL), respectively, which was significantly higher than those of the control group(3.73±1.63 ng/mL [3.26 ～ 4.20], t=6.820, P<0.001, and 0.84±0.60 ng/mL [0.66 ～ 1.01], t=5. 588, P<0.001, respectively). The AUC for AFP-L2 and AFP-L3 in screened Trisomy 18 fetuses was 0.848(95% CI: 0.767-0.930, P < 0.001) and 0.806(95% CI: 0.707-0.905, P < 0.001), respectively. The optimal cutoff values of AFP-L2 and AFP-L3 for Trisomy 18 fetuses were determined to be 6.340 ng/mL and 1.705 ng/mL, respectively. The corresponding sensitivity, specificity, and Youden index values were 0.615, 1.000, 0.615;0.6410, 0.958, and 0.599, respectively. Comparisons across multiple modeling methods showed that the highest AUC of screened Trisomy 18 fetuses(0.992 and 0.986) was yielded by AFP-L2 + AFP-L3 + free β-HCG, and AFP-L2 + free β-HCG, with 1.000 sensitivity indicated in both instances. By comparing the results of the two combined tests, it was shown that, when performed in parallel, the sensitivities of the four Trisomy 18 screening

关键词： pregnant women mid-pregnancy prenatal screening fetoprotein variant AFP-L2/AFP-L3 Trisomy 18. case-controlled study

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Correlation Risk Modelling of Maternal Serum Alpha-Fetoprotein Variants(AFP-L2 and AFP-L3) in the Detection of Fetal Open Neural Tube Defects and Abdominal Wall Defects

Correlation Risk Modelling of Maternal Serum Alpha-Fetoprote...

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2019长三角围产医学学术会议暨浙江省围产医学学术大会

作者： Yiming Chen Sha Lu Liu Rimin Wen Zhang Chen Lei Yixuan Yin Zhang Lidan Jiejing Lian Jin Aiyu Wensheng Hu Department of Prenatal diagnosis and screening center Hangzhou Women’s Hospital (Hangzhou Maternity and Child Health Care Hospital) Department of Cell Biology and Medical Genetics School of Medicine Zhejiang University

Objective: To evaluate correlation risk model screening efficiency of the maternal serum alphafetoprotein variants L2 and L3(AFP-L2 and AFP-L3) in the detection of fetal open neural tube defects(ONTD) and abdominal wall defects(AWD).Methods: We divided Subjects into the ONTD group(21 cases), the AWD group(16 cases) and the control group(38 cases) depending on the presence or absence of fetal ONTD or AWD. Serum levels of AFP-L2 and AFP-L3 using the multiple of the median(MoM) were detected by Enzyme linked immunosorbent assay(ELISA). Comparative analysis was performed on AFP-L2 and AFP-L3 levels using a model created by multiple indicators to determine the efficiency of ONTD or AWD screening. Receiver operating characteristic(ROC) curves were used to determine the optimal cut-off value, area under the curve(AUC) and to evaluate the screening performance of AFP-L2 and AFP-L3. Results: AFP-L2 levels in the ONTD group and the AWD group were 1.77(0.76-2.89) MoM and 1.79(0.77-4.41) MoM, respectively. They were both significantly higher than those in the control group [1.01(0.15-1.53) MoM, P<0.001)]. AFP-L3 levels in the ONTD group and the AWD group were 2.85(0.74-5.85) MoM and 3.57(0.86-6.81) MoM, respectively. They were also both significantly higher than those in the control group [1.16(0.13-1.92) MoM, P<0.001)]. The AUC for screening ONTD or AWD using AFP-L2 was 0.830 [95% confidence interval(CI): 0.734-0.926, P<0.001], while using AFP-L3 was 0.886 [95% confidence interval(CI): 0.809-0.963, P<0.001]. ROC curves indicated that the optimal threshold values for ONTD or AWD by AFP-L2 and AFP-L3 were 1.467 MoM and 1.944 MOM, respectively. The corresponding sensitivity, specificity and Youden index for AFP-L2 and AFP-L3 were 0.703, 0.947, 0.650 and 0.730, 0.974, 0.703, respectively. The correlation risk model established using AFP-L2 and AFP-L3 showed better screening efficiency than the original AFP MOM as a single-value model. Conclusion: Mid-pregnancy maternal serum level

关键词： pregnant women mid-pregnancy prenatal screening fetoprotein variant AFP-L2/AFP-L3 open neural tube abnormalities case-controlled study

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Correlation Risk Modelling of Maternal Serum Alpha-Fetoprotein Variants(AFP-L2 and AFP-L3) in the Detection of Fetal Open Neural Tube Defects and Abdominal Wall Defects

Correlation Risk Modelling of Maternal Serum Alpha-Fetoprote...

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2019浙江省妇产科医师大会及妇产科学学术年会

作者： Yiming Chen Sha Lu Liu,Rimin Wen Zhang Chen,Lei Yixuan Yin Zhang,Lidan Jiejing Lian Jin Aiyu Wensheng Hu Department of Prenatal diagnosis and screening center Hangzhou Women's Hospital (Hangzhou Maternity and Child Health Care Hospital) Department of Cell Biology and Medical Genetics School of MedicineZhejiang University Department of Cell Biology and Medical Genetics School of MedicineZhejiang University866Yuhangtang Road

Objective:To evaluate correlation risk model screening efficiency of the maternal serum alphafetoprotein variants L2 and L3(AFP-L2 and AFP-L3) in the detection of fetal open neural tube defects(ONTD) and abdominal wall defects(AWD).Methods:We divided Subjects into the ONTD group(21 cases),the AWD group(16 cases) and the control group(38 cases) depending on the presence or absence of fetal ONTD or *** levels of AFP-L2 and AFP-L3 using the multiple of the median(MoM) were detected by Enzyme linked immunosorbent assay(ELISA).Comparative analysis was performed on AFP-L2 and AFP-L3 levels using a model created by multiple indicators to determine the efficiency of ONTD or AWD *** operating characteristic(ROC) curves were used to determine the optimal cut-off value,area under the curve(AUC) and to evaluate the screening performance of AFP-L2 and ***:AFP-L2 levels in the ONTD group and the AWD group were 1.77(0.76-2.89) MoM and 1.79(0.77-4.41) MoM,*** were both significantly higher than those in the control group [1.01(0.15-1.53) MoM,P<0.001)].AFP-L3 levels in the ONTD group and the AWD group were 2.85(0.74-5.85) MoM and 3.57(0.86-6.81) MoM,*** were also both significantly higher than those in the control group [1.16(0.13-1.92) MoM,P<0.001)].The AUC for screening ONTD or AWD using AFP-L2 was 0.830 [95% confidence interval(CI):0.734-0.926,P<0.001],while using AFP-L3 was 0.886 [95% confidence interval(CI):0.809-0.963,P<0.001].ROC curves indicated that the optimal threshold values for ONTD or AWD by AFP-L2 and AFP-L3 were 1.467 MoM and 1.944 MOM,*** corresponding sensitivity,specificity and Youden index for AFP-L2 and AFP-L3 were 0.703,0.947,0.650 and 0.730,0.974,0.703,*** correlation risk model established using AFP-L2 and AFP-L3 showed better screening efficiency than the original AFP MOM as a single-value ***:Mid-pregnancy maternal serum levels of AFP-L2 and AFP-L3 are good bi

关键词： pregnant women mid-pregnancy prenatal screening fetoprotein variant AFP-L2/AFP-L3 open neural tube abnormalities case-controlled study

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