本文選題：多囊卵巢綜合征 + 腦源性神經(jīng)營(yíng)養(yǎng)因子��； 參考：《廣州醫(yī)科大學(xué)》2014年碩士論文

【摘要】：目的：本研究探討腦源性神經(jīng)營(yíng)養(yǎng)因子（BDNF）基因多態(tài)性及單體型與中國(guó)廣東漢族人群多囊卵巢綜合癥（PCOS）的相關(guān)性，探討多囊卵巢綜合癥的遺傳學(xué)背景及發(fā)病機(jī)制。 方法：選擇廣東地區(qū)漢族婦女為本次研究對(duì)象，采用病例-對(duì)照研究分析方法，對(duì)328例多囊卵巢綜合征患者和358例正常婦女進(jìn)行研究。利用SNaPshot技術(shù)對(duì)BDNF基因4個(gè)位點(diǎn)rs6265、rs11030104、rs10835210和rs2030324進(jìn)行基因分型檢測(cè)，并對(duì)這4個(gè)位點(diǎn)進(jìn)行連鎖不平衡和構(gòu)建單體型分析，比較不同基因型和單體型與多囊卵巢綜合征發(fā)病風(fēng)險(xiǎn)之間的關(guān)系。 結(jié)果： 1.中國(guó)廣東地區(qū)漢族婦女中存在BDNF基因4個(gè)rs6265、rs11030104、rs10835210和rs2030324多態(tài)位點(diǎn)。 2. BDNF基因rs6265位點(diǎn)兩組間基因型頻率比較差別有統(tǒng)計(jì)學(xué)意義（P＜0.05）。AA和AG基因型能夠增加患PCOS的風(fēng)險(xiǎn)（OR=1.48，95%CI=1.03-2.14）（OR=1.64，，95%CI=1.06-2.54）。經(jīng)校正年齡、BMI后，AA和AG基因型仍與PCOS的發(fā)病相關(guān)（OR=1.64，95%CI=1.12-2.24）（OR=1.74，95%CI=1.10-2.76）。 3. BDNF基因rs11030104、rs10835210和rs2030324多態(tài)位點(diǎn)的基因型頻率分布及等位基因頻率分布無統(tǒng)計(jì)學(xué)差異（P＞0.05）。 4.遺傳不平衡分析發(fā)現(xiàn)rs6265和rs11030104聯(lián)接緊密。將rs6265和rs11030104構(gòu)建單體型，發(fā)現(xiàn)GG、AA、AG3種單體型頻率與對(duì)照組有顯著差異（P＜0.05），增加PCOS的發(fā)病風(fēng)險(xiǎn)（OR=2.25，95%CI=1.47—3.45），（OR=2.36，95%CI=1.54—3.60），（OR=5.11，95%CI=2.61—10.02）。經(jīng)過年齡與BMI校正后GG、AA、AG33種單體型與多PCOS發(fā)病的發(fā)病風(fēng)險(xiǎn)仍然顯著相關(guān)（OR=2.23，95%CI=1.45-3.41）、（OR=2.33，95%CI=1.52-3.56）、（OR=5.05，95%CI=2.58-9.91）。 結(jié)論： 1. BDNF基因SNPs rs6265多態(tài)可能是中國(guó)廣東漢族人群PCOS高危險(xiǎn)因素。 2.BDNF基因rs6265和rs11030104構(gòu)成的GG、AA、AG3單體型可能是中國(guó)廣東漢族人群PCOS高危險(xiǎn)因素。 3．BDNF基因rs11030104、rs10835210和rs2030324多態(tài)性可能與PCOS的發(fā)病無關(guān)。
[Abstract]:Objective: to investigate the association of BDNF gene polymorphism and haplotype with polycystic ovary syndrome (PCOS) in Guangdong Han population, and to explore the genetic background and pathogenesis of polycystic ovary syndrome (PCOS). Methods: 328 patients with polycystic ovary syndrome (PCOS) and 358 normal women were studied by case-control study. Four loci of BDNF gene, rs6265rs11030104, rs10835210 and rs2030324, were genotyped by SNaPshot technique. Linkage disequilibrium and construction haplotype analysis were performed to compare the relationship between different genotypes and haplotypes and the risk of polycystic ovary syndrome (PCOS). Results: 1. There are four rs6265rs11030104 rs10835210 and rs2030324 polymorphic loci of BDNF gene in Han women in Guangdong, China. 2. There were significant differences in genotype frequencies between the two groups at rs6265 locus of BDNF gene. P < 0.05).AA and AG genotype could increase the risk of PCOS. The genotype of AA and AG was still associated with the onset of PCOS after adjusted age. 3. There was no significant difference in genotype frequency distribution and allele frequency distribution between rs11030104 rs10835210 and rs2030324 polymorphic loci in BDNF gene (P > 0.05). 4. Genetic disequilibrium analysis showed that rs6265 and rs11030104 were closely linked. The haplotypes of rs6265 and rs11030104 were constructed. There was significant difference in the frequency of the three haplotypes between the two groups (P < 0.05), and the risk of PCOS was increased by 2.257-3.45CII 2.3695CIK1.54-3.60CI2.61-10.02FI of OR5.1195CI2.61-10.02. After the adjustment of age and BMI, there was still a significant correlation between the haplotypes and the risk of polymorphic PCOS. There was still a significant correlation between 1.45-3.41 CI and 2.33 + 95CII, 2.33 + 95CII, 1.52-3.56CII 5.05-95CI2.58-9.91. Conclusion: 1. SNPs rs6265 polymorphism of BDNF gene may be a high risk factor for PCOS in Guangdong Han population. The haplotype of 2.BDNF gene rs6265 and rs11030104 may be a high risk factor for PCOS in Guangdong Han population. 3.BDNF gene rs11030104 rs10835210 and rs2030324 polymorphism may not be associated with the pathogenesis of PCOS.
【學(xué)位授予單位】：廣州醫(yī)科大學(xué)
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2014
【分類號(hào)】：R711.75

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本文編號(hào)：1906190