女孩特发性中枢性性早熟的基因多态性及环境因素研究

发布时间：2018-06-23 10:22

  本文选题：特发性中枢性性早熟 + 危险因素　； 参考：《福建医科大学》2014年硕士论文

【摘要】：[目的] 探讨福建地区女孩特发性中枢性性早熟（ICPP）的环境危险因素；研究单核苷酸多态性（SNP）与ICPP易感性的关系，从环境和基因两方面，探讨ICPP女孩的发病机制。 [方法] 1.采用病例对照研究，选择2011年10月至2013年10月在福建省福州儿童医院确诊为ICPP的女孩566名以及来源于本院体检中心的健康女孩547名作为研究对象，对儿童的饮食情况、行为习惯、父母及家庭情况进行问卷调查，并对相关因素进行Logistic回归分析。 2.选择2011年10月至2013年5月在福建省福州儿童医院确诊为ICPP的女孩244例以及来源于本院体检中心的健康女孩297例作为研究对象。应用计算机预测软件筛选出7个性发育相关基因microRNA(miRNA)结合位点SNPs以及选择在白种人群中有意义的8个初潮相关SNPs。采集研究对象2ml血液样本，提取DNA，通过多重连接酶（imLDRTM）SNP分型技术检测以上SNPs。应用χ2检验及logistic回归分析这些SNPs与ICPP的关系。 [结果] 1.单因素分析有23个变量差异有统计学意义。Logistic回归分析,最终进入模型的变量有:母亲初潮年龄＞13岁（OR=0.278,95%CI:0.201,0.384）、摄入有机水果（OR=0.316,95%CI:0.157,0.634）、每天运动时间（OR=0.609,95%CI:0.490,0.758）、普通蔬菜（OR=1.275,95%CI:1.095,1.485）、普通家畜（OR=1.364,95%CI:1.199,1.551）、BMI（OR=1.599,95%CI:1.365,1.874）、父母月收入总和（OR=1.671,95%CI:1.317,2.120）、自觉课业负担沉重（OR=1.818,95%CI:1.121,2.948）、各种方便食品（快速面）（OR=2.990,95%CI:1.241,7.203）、服用营养品（OR=3.736,95%CI:2.063,6.765）、经常使用成人洗漱护肤品（OR=5.284,95%CI:3.240,8.618）。其中母亲初潮年龄＞13岁、摄入有机水果、每天运动时间长是ICPP的保护因素，其他8个变量均为ICPP的危险因素。 2. rs4452860GG基因型携带者患ICPP风险是GA、AA基因型携带者的1.94倍（95%CI:1.12,3.34）；rs2090409AA基因型携带者患ICPP风险是CC、CA基因型携带者的1.83倍(95%CI:1.05,3.18)；rs7538038GA、GG基因型携带者患ICPP风险是AA基因型携带者的1.7倍（95%CI:1.03,2.80）；rs7861820CC、CT基因型携带者患ICPP风险是TT基因型携带者的0.27倍(95%CI:0.08,0.87)。通过生物学软件预测性发育相关基因miRNA结合位点SNPs，发现rs183964128、rs3020386的人群基因型分布频率PubMed未见报道。研究发现：LIN28B rs221635、rs314276、rs314263、rs7759938、rs314280，ESR1rs1062577、rs3798577在两组中的频率分布没有差异。 [结论] 1.影响福建地区女孩ICPP相关因素众多，其发病与母亲初潮年龄、饮食、行为习惯、BMI、家庭经济状况及学习压力相关。 2.白种人初潮年龄相关SNPs：rs7538038、rs2090409、rs4452860、rs7861820与女孩ICPP相关。
[Abstract]:[objective] to investigate the environmental risk factors of idiopathic central precocious puberty (ICPP) in girls in Fujian, to study the relationship between single nucleotide polymorphism (SNP) and susceptibility to ICPP, and to explore the pathogenesis of ICPP girls in terms of environment and gene. [methods] 1. Using a case-control study, 566 girls diagnosed as ICPP in Fuzhou Children's Hospital of Fujian Province from October 2011 to October 2013 and 547 healthy girls from the physical examination center of our hospital were selected as the subjects of the study. Behavior habits, parents and family situation were investigated by questionnaire, and logistic regression analysis was used to analyze the related factors. 2. From October 2011 to May 2013, 244 girls diagnosed as ICPP in Fuzhou Children's Hospital of Fujian Province and 297 healthy girls from our physical examination Center were selected as the study subjects. MicroRNA (miRNA) binding site SNPs of 7 personality development related genes and 8 menarche associated SNPs with significance in white population were screened by computer prediction software. The blood samples of 2ml were collected, the DNA was extracted, and the SNPs were detected by the technique of multiple ligase (imLDRTM) SNP typing. 蠂 2 test and logistic regression analysis were used to analyze the relationship between SNPs and ICPP. [result] 1. There were 23 variables in univariate analysis with statistical significance. Logistic regression analysis. 鏈，

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