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女孩特發(fā)性中樞性性早熟的基因多態(tài)性及環(huán)境因素研究

發(fā)布時間:2018-06-23 10:22

  本文選題:特發(fā)性中樞性性早熟 + 危險因素 ; 參考:《福建醫(yī)科大學》2014年碩士論文


【摘要】:[目的] 探討福建地區(qū)女孩特發(fā)性中樞性性早熟(ICPP)的環(huán)境危險因素;研究單核苷酸多態(tài)性(SNP)與ICPP易感性的關系,從環(huán)境和基因兩方面,探討ICPP女孩的發(fā)病機制。 [方法] 1.采用病例對照研究,選擇2011年10月至2013年10月在福建省福州兒童醫(yī)院確診為ICPP的女孩566名以及來源于本院體檢中心的健康女孩547名作為研究對象,對兒童的飲食情況、行為習慣、父母及家庭情況進行問卷調查,并對相關因素進行Logistic回歸分析。 2.選擇2011年10月至2013年5月在福建省福州兒童醫(yī)院確診為ICPP的女孩244例以及來源于本院體檢中心的健康女孩297例作為研究對象。應用計算機預測軟件篩選出7個性發(fā)育相關基因microRNA(miRNA)結合位點SNPs以及選擇在白種人群中有意義的8個初潮相關SNPs。采集研究對象2ml血液樣本,提取DNA,通過多重連接酶(imLDRTM)SNP分型技術檢測以上SNPs。應用χ2檢驗及l(fā)ogistic回歸分析這些SNPs與ICPP的關系。 [結果] 1.單因素分析有23個變量差異有統(tǒng)計學意義。Logistic回歸分析,最終進入模型的變量有:母親初潮年齡>13歲(OR=0.278,95%CI:0.201,0.384)、攝入有機水果(OR=0.316,95%CI:0.157,0.634)、每天運動時間(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)、父母月收入總和(OR=1.671,95%CI:1.317,2.120)、自覺課業(yè)負擔沉重(OR=1.818,95%CI:1.121,2.948)、各種方便食品(快速面)(OR=2.990,95%CI:1.241,7.203)、服用營養(yǎng)品(OR=3.736,95%CI:2.063,6.765)、經常使用成人洗漱護膚品(OR=5.284,95%CI:3.240,8.618)。其中母親初潮年齡>13歲、攝入有機水果、每天運動時間長是ICPP的保護因素,其他8個變量均為ICPP的危險因素。 2. rs4452860GG基因型攜帶者患ICPP風險是GA、AA基因型攜帶者的1.94倍(95%CI:1.12,3.34);rs2090409AA基因型攜帶者患ICPP風險是CC、CA基因型攜帶者的1.83倍(95%CI:1.05,3.18);rs7538038GA、GG基因型攜帶者患ICPP風險是AA基因型攜帶者的1.7倍(95%CI:1.03,2.80);rs7861820CC、CT基因型攜帶者患ICPP風險是TT基因型攜帶者的0.27倍(95%CI:0.08,0.87)。通過生物學軟件預測性發(fā)育相關基因miRNA結合位點SNPs,發(fā)現rs183964128、rs3020386的人群基因型分布頻率PubMed未見報道。研究發(fā)現:LIN28B rs221635、rs314276、rs314263、rs7759938、rs314280,ESR1rs1062577、rs3798577在兩組中的頻率分布沒有差異。 [結論] 1.影響福建地區(qū)女孩ICPP相關因素眾多,其發(fā)病與母親初潮年齡、飲食、行為習慣、BMI、家庭經濟狀況及學習壓力相關。 2.白種人初潮年齡相關SNPs:rs7538038、rs2090409、rs4452860、rs7861820與女孩ICPP相關。
[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,

本文編號:2056803

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