脑源性神经营养因子基因多态性及单体型与多囊卵巢综合征的相关性研究

发布时间：2018-05-18 14:32

本文选题：多囊卵巢综合征 + 脑源性神经营养因子　；参考：《广州医科大学》2014年硕士论文

【摘要】：目的：本研究探讨脑源性神经营养因子（BDNF）基因多态性及单体型与中国广东汉族人群多囊卵巢综合症（PCOS）的相关性，探讨多囊卵巢综合症的遗传学背景及发病机制。方法：选择广东地区汉族妇女为本次研究对象，采用病例-对照研究分析方法，对328例多囊卵巢综合征患者和358例正常妇女进行研究。利用SNaPshot技术对BDNF基因4个位点rs6265、rs11030104、rs10835210和rs2030324进行基因分型检测，并对这4个位点进行连锁不平衡和构建单体型分析，比较不同基因型和单体型与多囊卵巢综合征发病风险之间的关系。结果： 1.中国广东地区汉族妇女中存在BDNF基因4个rs6265、rs11030104、rs10835210和rs2030324多态位点。 2. BDNF基因rs6265位点两组间基因型频率比较差别有统计学意义（P＜0.05）。AA和AG基因型能够增加患PCOS的风险（OR=1.48，95%CI=1.03-2.14）（OR=1.64，，95%CI=1.06-2.54）。经校正年龄、BMI后，AA和AG基因型仍与PCOS的发病相关（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多态位点的基因型频率分布及等位基因频率分布无统计学差异（P＞0.05）。 4.遗传不平衡分析发现rs6265和rs11030104联接紧密。将rs6265和rs11030104构建单体型，发现GG、AA、AG3种单体型频率与对照组有显著差异（P＜0.05），增加PCOS的发病风险（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）。经过年龄与BMI校正后GG、AA、AG33种单体型与多PCOS发病的发病风险仍然显著相关（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）。结论： 1. BDNF基因SNPs rs6265多态可能是中国广东汉族人群PCOS高危险因素。 2.BDNF基因rs6265和rs11030104构成的GG、AA、AG3单体型可能是中国广东汉族人群PCOS高危险因素。 3．BDNF基因rs11030104、rs10835210和rs2030324多态性可能与PCOS的发病无关。
[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.
【学位授予单位】：广州医科大学
【学位级别】：硕士
【学位授予年份】：2014
【分类号】：R711.75

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