Objective: To estimate the prevalence rates of neural tube defects (NTDs) in Heshun County, Shanxi Province, China by Bayesian smoothing technique. Methods: A total of 80 infants in the study area who were diagnosed w...Objective: To estimate the prevalence rates of neural tube defects (NTDs) in Heshun County, Shanxi Province, China by Bayesian smoothing technique. Methods: A total of 80 infants in the study area who were diagnosed with NTDs were analyzed. Two mapping techniques were then used. Firstly, the GIS software ArcGIS was used to map the crude prevalence rates. Secondly, the data were smoothed by the method of empirical Bayes estimation. Results: The classical statistical approach produced an extremely dishomogeneous map, while the Bayesian map was much smoother and more interpretable. The maps produced by the Bayesian technique indicate the tendency of villages in the southeastern region to produce higher prevalence or risk values. Conclusions: The Bayesian smoothing technique addresses the issue of heterogeneity in the population at risk and it is therefore recommended for use in explorative mapping of birth defects. This approach provides procedures to identify spatial health risk levels and assists in generating hypothesis that will be investigated in further detail.展开更多
Copy number variations have been found in patients with neural tube abnormalities.In this study,we performed genome-wide screening using high-resolution array-based comparative genomic hybridization in three children ...Copy number variations have been found in patients with neural tube abnormalities.In this study,we performed genome-wide screening using high-resolution array-based comparative genomic hybridization in three children with tethered spinal cord syndrome and two healthy parents.Of eight copy number variations,four were non-polymorphic.These non-polymorphic copy number variations were associated with Angelman and Prader-Willi syndromes,and microcephaly.Gene function enrichment analysis revealed that COX8 C,a gene associated with metabolic disorders of the nervous system,was located in the copy number variation region of Patient 1.Our results indicate that array-based comparative genomic hybridization can be used to diagnose tethered spinal cord syndrome.Our results may help determine the pathogenesis of tethered spinal cord syndrome and prevent occurrence of this disease.展开更多
Background Maternal exposure to nitrate, nitrite, and N-nitroso compounds from drinking water or diet has been associated with an increased risk of neural tube defects （NTDs） in some studies. Pickled vegetables cont...Background Maternal exposure to nitrate, nitrite, and N-nitroso compounds from drinking water or diet has been associated with an increased risk of neural tube defects （NTDs） in some studies. Pickled vegetables contain relatively large amounts of nitrite and N-nitroso compounds. We examined the association between maternal periconceptional consumption of pickled vegetables and NTDs in Shanxi Province of northern China. Methods Data were derived from a population based case-control study of major external birth defects in four counties of $hanxi Province. Participants included 519 NTDs cases identified between 2003 and 2007 and 694 healthy controls. Exposure information was collected within 1 week after delivery. Multivariable non-conditioanal Logistic regression model was used to estimate the adjusted odds ratio （OR） controlling for potential confounding variables.展开更多
目的·探究小鼠胚胎在视黄酸(retinoic acid,RA)诱导下产生神经管畸形的分子调控机制,揭示小鼠神经管闭合阶段基因表达规律。方法·基于已获得的小鼠胚胎神经管闭合关键期[胚胎发育第8.5日(embryonic day 8.5,E8.5)、E9.5、E10...目的·探究小鼠胚胎在视黄酸(retinoic acid,RA)诱导下产生神经管畸形的分子调控机制,揭示小鼠神经管闭合阶段基因表达规律。方法·基于已获得的小鼠胚胎神经管闭合关键期[胚胎发育第8.5日(embryonic day 8.5,E8.5)、E9.5、E10.5]高质量脑泡转录组数据,利用短时间序列表达挖掘器(Short Time-series Expression Miner,STEM)软件分别得到RA处理组和正常组在3个时间点的基因表达趋势数据。对处理组与正常组基因表达趋势不一致的基因进行基因本体(Gene Ontology,GO)富集分析、京都基因与基因组百科全书(Kyoto Encyclopedia of Genes and Genomes,KEGG)富集分析,并随机筛选候选基因以验证测序数据可靠性。利用RA诱导构建神经管畸形小鼠模型,分为处理组和正常组,每组各9只。处理组和正常组孕鼠在E7.5分别接受28 mg/kg RA和香油灌胃处理,在E8.5、E9.5、E10.5收集胎鼠脑泡组织,对筛选的候选基因进行实时荧光定量PCR(quantitative real-time PCR,RT-qPCR)验证。结果·正常组共检测出18255个基因的表达量数据,处理组共检测出19037个基因的表达量数据;正常组基因可归纳至7个具有显著意义的表达模式中,处理组基因可归纳至6个具有显著意义的表达模式中;正常组和处理组检测到表达的基因数目足够、表达的模式相似,具有可比性。进一步分析发现正常组中呈现上升表达趋势但在处理组中呈现下降表达趋势的基因共有46个,在生物学过程层面富集在器官发育、神经元凋亡的正负调控、少突胶质细胞增殖、成纤维生长因子信号通路等;在细胞组分层面,主要参与组成细胞、神经元的基本结构;在分子功能层面,主要与成纤维细胞生长因子受体结合有关。正常组中呈现下降表达趋势而在处理组中呈现上升表达趋势的61个基因,在生物学过程层面富集在细胞溶解、氨基酸/离子转运等功能上;在细胞组分层面,富集在胞内分子、皮质颗粒、胞外区域、细胞间隙等;在分子功能层面,与一系列酶及转运蛋白的活性有关。RT-qPCR验证结果显示转录组测序数据真实可靠。结论·RA干预使小鼠胚胎发育过程中发生基因表达失调和应激反应,导致胚胎发育异常,机体自我保护相关信号通路激活,维持胚胎正常发育的基因受到抑制。展开更多
目的探讨利用表面增强激光解析/离子化飞行时间质谱(SELDI-TOF-MS)技术结合分类与回归树分析(classification and regression tree analysis,CART)在筛选神经管缺陷胎儿母亲血清和尿液蛋白质标志物的应用。方法孕母血清样本31例,尿液样...目的探讨利用表面增强激光解析/离子化飞行时间质谱(SELDI-TOF-MS)技术结合分类与回归树分析(classification and regression tree analysis,CART)在筛选神经管缺陷胎儿母亲血清和尿液蛋白质标志物的应用。方法孕母血清样本31例,尿液样本35例和羊水样本20例用于检测。采用PBSIIC型蛋白质芯片阅读机读取数据。SELDI数据结果采用分类与回归树分析(CART)建立血清和尿液诊断模型,用于区分神经管缺陷组与正常对照组。结果与正常组比较,神经管畸形组血清中有8种蛋白质高表达,4种蛋白质低表达;尿液中有4种蛋白质高表达,1种蛋白质低表达;羊水中有6种蛋白质高表达,1种蛋白质低表达。4种蛋白质峰用于建立决策分类树诊断模型,血清诊断灵敏度88.20%,特异度100%;尿液诊断灵敏度80.00%,特异度93.33%。结论血清和尿液蛋白质谱的高灵敏度和特异度提示表面增强激光解析/离子化飞行时间质谱结合分类与回归树分析能够筛选神经管缺陷胎儿和正常对照。展开更多
目的利用Meta分析探讨母亲及子代甲硫氨酸合酶还原酶(MTRR)基因A66G多态性与神经管缺陷(NTDs)发生的相关性。方法检索万方数据库、中国知网、中国生物医学文献数据库、中文科技期刊数据库、Pub Med和Web of Science等中英文数据库,检索...目的利用Meta分析探讨母亲及子代甲硫氨酸合酶还原酶(MTRR)基因A66G多态性与神经管缺陷(NTDs)发生的相关性。方法检索万方数据库、中国知网、中国生物医学文献数据库、中文科技期刊数据库、Pub Med和Web of Science等中英文数据库,检索时间均为自建库至2015年11月。按照纳入标准选取有关母亲和(或)子代MTRR基因A66G多态性与NTDs发生相关的病例对照研究的学术期刊文献及其参考文献,提取相关数据并应用RevMan 5.0和STATA12.0软件进行Meta分析。结果 (1)有关母亲MTRR基因A66G多态性与NTDs发生相关的文献11篇,包括病例组1 284例,对照组2 182例。Meta分析结果显示,在共显性(GG基因型 vs AA基因型)及等位基因遗传模型下合并OR(95%CI)分别为1.55(1.06~2.27)、1.22(1.01~1.47),故母亲GG基因型相对AA基因型、G等位基因相对A等位基因对于子代NTDs的发生有统计学意义。(2)有关子代MTRR基因A66G多态性与NTDs发生相关的文献11篇,包括病例组1 567例,对照组2 621例。Meta分析结果显示,在共显性(AG基因型 vs AA基因型)遗传模型下合并OR(95%CI)为1.47(1.05~2.05),故子代AG基因型相对AA基因型对于NTDs的发生有统计学意义。结论母亲和子代MTRR基因A66G多态性均为NTDs发生的危险因素。展开更多
目的应用Meta分析方法定量评价母亲甲硫氨酸合成酶(MTR)基因A2756G和甲硫氨酸合成酶还原酶(MTRR)基因A66G多态性与子代神经管畸形(NTDs)易感性的相关性。方法制定检索策略和文献纳入排除标准,系统检索中国生物医学文献数据库、中文科技...目的应用Meta分析方法定量评价母亲甲硫氨酸合成酶(MTR)基因A2756G和甲硫氨酸合成酶还原酶(MTRR)基因A66G多态性与子代神经管畸形(NTDs)易感性的相关性。方法制定检索策略和文献纳入排除标准,系统检索中国生物医学文献数据库、中文科技期刊数据库、中国期刊全文数据库、万方数据库和PubMed、Webof Science外文数据库中自1990年1月到2011年10月的有关MTR A2756G和MTRR A66G位点多态性与子代NTDs易感性的病例对照研究、学位论文及其引文。采用RevMan5.0软件对各文献进行异质性检验和Meta分析,得到合并后的OR值及其95%CI。结果共有18篇文献纳入Meta分析,MTR A2756G(907例病例和1 978例对照)和MTRR A66G(1 123例病例和1 700例对照)基因多态性的文献各11篇。Meta分析结果显示,母亲MTR基因A2756G位点各遗传模型与子代NTDs易感性之间关联性无统计学意义,而MTRR基因A66G位点GG/AG vsAA、GG vs AA、AG vs AA、GG vs AG/AA和G vs A各遗传模型与子代NTDs易感性之间关联性均有统计学意义,OR值及95%CI分别为1.89(1.28～2.78)、1.68(1.31～2.16)、1.77(1.18～2.66)、1.28(1.06～1.55)和1.35(1.12～1.63)。结论母亲MTRR基因A66G位点多态性是子代NTDs发病的重要危险因素之一。展开更多
基金Project supported by the National Natural Science Foundation of China (Nos. 40471111 and 70571076)the Ministry of Science and Technology of China (No. 2001CB5103)
文摘Objective: To estimate the prevalence rates of neural tube defects (NTDs) in Heshun County, Shanxi Province, China by Bayesian smoothing technique. Methods: A total of 80 infants in the study area who were diagnosed with NTDs were analyzed. Two mapping techniques were then used. Firstly, the GIS software ArcGIS was used to map the crude prevalence rates. Secondly, the data were smoothed by the method of empirical Bayes estimation. Results: The classical statistical approach produced an extremely dishomogeneous map, while the Bayesian map was much smoother and more interpretable. The maps produced by the Bayesian technique indicate the tendency of villages in the southeastern region to produce higher prevalence or risk values. Conclusions: The Bayesian smoothing technique addresses the issue of heterogeneity in the population at risk and it is therefore recommended for use in explorative mapping of birth defects. This approach provides procedures to identify spatial health risk levels and assists in generating hypothesis that will be investigated in further detail.
文摘Copy number variations have been found in patients with neural tube abnormalities.In this study,we performed genome-wide screening using high-resolution array-based comparative genomic hybridization in three children with tethered spinal cord syndrome and two healthy parents.Of eight copy number variations,four were non-polymorphic.These non-polymorphic copy number variations were associated with Angelman and Prader-Willi syndromes,and microcephaly.Gene function enrichment analysis revealed that COX8 C,a gene associated with metabolic disorders of the nervous system,was located in the copy number variation region of Patient 1.Our results indicate that array-based comparative genomic hybridization can be used to diagnose tethered spinal cord syndrome.Our results may help determine the pathogenesis of tethered spinal cord syndrome and prevent occurrence of this disease.
文摘Background Maternal exposure to nitrate, nitrite, and N-nitroso compounds from drinking water or diet has been associated with an increased risk of neural tube defects （NTDs） in some studies. Pickled vegetables contain relatively large amounts of nitrite and N-nitroso compounds. We examined the association between maternal periconceptional consumption of pickled vegetables and NTDs in Shanxi Province of northern China. Methods Data were derived from a population based case-control study of major external birth defects in four counties of $hanxi Province. Participants included 519 NTDs cases identified between 2003 and 2007 and 694 healthy controls. Exposure information was collected within 1 week after delivery. Multivariable non-conditioanal Logistic regression model was used to estimate the adjusted odds ratio （OR） controlling for potential confounding variables.
文摘目的探讨利用表面增强激光解析/离子化飞行时间质谱(SELDI-TOF-MS)技术结合分类与回归树分析(classification and regression tree analysis,CART)在筛选神经管缺陷胎儿母亲血清和尿液蛋白质标志物的应用。方法孕母血清样本31例,尿液样本35例和羊水样本20例用于检测。采用PBSIIC型蛋白质芯片阅读机读取数据。SELDI数据结果采用分类与回归树分析(CART)建立血清和尿液诊断模型,用于区分神经管缺陷组与正常对照组。结果与正常组比较,神经管畸形组血清中有8种蛋白质高表达,4种蛋白质低表达;尿液中有4种蛋白质高表达,1种蛋白质低表达;羊水中有6种蛋白质高表达,1种蛋白质低表达。4种蛋白质峰用于建立决策分类树诊断模型,血清诊断灵敏度88.20%,特异度100%;尿液诊断灵敏度80.00%,特异度93.33%。结论血清和尿液蛋白质谱的高灵敏度和特异度提示表面增强激光解析/离子化飞行时间质谱结合分类与回归树分析能够筛选神经管缺陷胎儿和正常对照。
文摘目的利用Meta分析探讨母亲及子代甲硫氨酸合酶还原酶(MTRR)基因A66G多态性与神经管缺陷(NTDs)发生的相关性。方法检索万方数据库、中国知网、中国生物医学文献数据库、中文科技期刊数据库、Pub Med和Web of Science等中英文数据库,检索时间均为自建库至2015年11月。按照纳入标准选取有关母亲和(或)子代MTRR基因A66G多态性与NTDs发生相关的病例对照研究的学术期刊文献及其参考文献,提取相关数据并应用RevMan 5.0和STATA12.0软件进行Meta分析。结果 (1)有关母亲MTRR基因A66G多态性与NTDs发生相关的文献11篇,包括病例组1 284例,对照组2 182例。Meta分析结果显示,在共显性(GG基因型 vs AA基因型)及等位基因遗传模型下合并OR(95%CI)分别为1.55(1.06~2.27)、1.22(1.01~1.47),故母亲GG基因型相对AA基因型、G等位基因相对A等位基因对于子代NTDs的发生有统计学意义。(2)有关子代MTRR基因A66G多态性与NTDs发生相关的文献11篇,包括病例组1 567例,对照组2 621例。Meta分析结果显示,在共显性(AG基因型 vs AA基因型)遗传模型下合并OR(95%CI)为1.47(1.05~2.05),故子代AG基因型相对AA基因型对于NTDs的发生有统计学意义。结论母亲和子代MTRR基因A66G多态性均为NTDs发生的危险因素。
文摘目的应用Meta分析方法定量评价母亲甲硫氨酸合成酶(MTR)基因A2756G和甲硫氨酸合成酶还原酶(MTRR)基因A66G多态性与子代神经管畸形(NTDs)易感性的相关性。方法制定检索策略和文献纳入排除标准,系统检索中国生物医学文献数据库、中文科技期刊数据库、中国期刊全文数据库、万方数据库和PubMed、Webof Science外文数据库中自1990年1月到2011年10月的有关MTR A2756G和MTRR A66G位点多态性与子代NTDs易感性的病例对照研究、学位论文及其引文。采用RevMan5.0软件对各文献进行异质性检验和Meta分析,得到合并后的OR值及其95%CI。结果共有18篇文献纳入Meta分析,MTR A2756G(907例病例和1 978例对照)和MTRR A66G(1 123例病例和1 700例对照)基因多态性的文献各11篇。Meta分析结果显示,母亲MTR基因A2756G位点各遗传模型与子代NTDs易感性之间关联性无统计学意义,而MTRR基因A66G位点GG/AG vsAA、GG vs AA、AG vs AA、GG vs AG/AA和G vs A各遗传模型与子代NTDs易感性之间关联性均有统计学意义,OR值及95%CI分别为1.89(1.28～2.78)、1.68(1.31～2.16)、1.77(1.18～2.66)、1.28(1.06～1.55)和1.35(1.12～1.63)。结论母亲MTRR基因A66G位点多态性是子代NTDs发病的重要危险因素之一。
