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(shí)間:2018-06-23 10:22
本文選題:特發(fā)性中樞性性早熟 + 危險(xiǎn)因素 ; 參考:《福建醫(yī)科大學(xué)》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(xiǎn)因素;研究單核苷酸多態(tài)性(SNP)與ICPP易感性的關(guān)系,從環(huán)境和基因兩方面,探討ICPP女孩的發(fā)病機(jī)制。 [方法] 1.采用病例對(duì)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(duì)象,對(duì)兒童的飲食情況、行為習(xí)慣、父母及家庭情況進(jìn)行問卷調(diào)查,并對(duì)相關(guān)因素進(jìn)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(duì)象。應(yīng)用計(jì)算機(jī)預(yù)測(cè)軟件篩選出7個(gè)性發(fā)育相關(guān)基因microRNA(miRNA)結(jié)合位點(diǎn)SNPs以及選擇在白種人群中有意義的8個(gè)初潮相關(guān)SNPs。采集研究對(duì)象2ml血液樣本,提取DNA,通過多重連接酶(imLDRTM)SNP分型技術(shù)檢測(cè)以上SNPs。應(yīng)用χ2檢驗(yàn)及l(fā)ogistic回歸分析這些SNPs與ICPP的關(guān)系。 [結(jié)果] 1.單因素分析有23個(gè)變量差異有統(tǒng)計(jì)學(xué)意義。Logistic回歸分析,最終進(jìn)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(jī)水果(OR=0.316,95%CI:0.157,0.634)、每天運(yùn)動(dòng)時(shí)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(fù)擔(dān)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(yíng)養(yǎng)品(OR=3.736,95%CI:2.063,6.765)、經(jīng)常使用成人洗漱護(hù)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(jī)水果、每天運(yùn)動(dòng)時(shí)間長(zhǎng)是ICPP的保護(hù)因素,其他8個(gè)變量均為ICPP的危險(xiǎn)因素。 2. rs4452860GG基因型攜帶者患ICPP風(fēng)險(xiǎn)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(fēng)險(xiǎn)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(fēng)險(xiǎn)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(fēng)險(xiǎn)是TT基因型攜帶者的0.27倍(95%CI:0.08,0.87)。通過生物學(xué)軟件預(yù)測(cè)性發(fā)育相關(guān)基因miRNA結(jié)合位點(diǎn)SNPs,發(fā)現(xiàn)rs183964128、rs3020386的人群基因型分布頻率PubMed未見報(bào)道。研究發(fā)現(xiàn):LIN28B rs221635、rs314276、rs314263、rs7759938、rs314280,ESR1rs1062577、rs3798577在兩組中的頻率分布沒有差異。 [結(jié)論] 1.影響福建地區(qū)女孩ICPP相關(guān)因素眾多,其發(fā)病與母親初潮年齡、飲食、行為習(xí)慣、BMI、家庭經(jīng)濟(jì)狀況及學(xué)習(xí)壓力相關(guān)。 2.白種人初潮年齡相關(guān)SNPs:rs7538038、rs2090409、rs4452860、rs7861820與女孩ICPP相關(guān)。
[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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