本文選題：TGF-β1 + 多囊卵巢綜合征（PCOS）　； 參考：《廣州醫(yī)科大學》2014年碩士論文

【摘要】：目的:探討TGF-β1基因5個位點（rs4803457、rs11466313、rs2317130、rs1800469、rs1800470）的單核苷酸多態(tài)性及其構成的單體型與中國廣東漢族婦女多囊卵巢綜合征的相關性。 方法：選擇廣東地區(qū)漢族婦女為本次研究對象，采用病例-對照研究分析方法，對328例多囊卵巢綜合征患者和358例正常婦女進行研究。利用聚合酶鏈式反應和Snapshot技術對TGF-β1基因5個位點：rs4803457（C/T）、rs11466313（deletion/AGG）、rs2317130（C/T）、rs1800469（C/T）、rs1800470（C/T）進行基因分型檢測，并對這5個位點進行連鎖不平衡和單體型分析，分別比較不同基因型和單體型與多囊卵巢綜合征發(fā)病風險之間的關系。 結果： 1、中國廣東地區(qū)漢族婦女中存在TGF-β1基因rs4803457、rs11466313、rs2317130、rs1800469、rs1800470多態(tài)位點。 2、TGF-β1基因rs4803457位點TT、CT、CC基因型頻率在在PCOS組中的頻率分別為28.05%、48.78%和23.17%，C/T等位基因頻率分別為38.13%和61.87%；在對照組中的頻率分布分別為36.59%、47.49%和15.92%，C/T等位基因頻率分別為39.66%和60.34%，，兩組間基因型頻率分布與等位基因頻率分布存在統(tǒng)計學差異（P＜0.05）。 3、建立多因素logistic回歸模型分析顯示，經(jīng)校正年齡、BMI因素后納入方程的為年齡、BMI和rs4803457位點CC基因型，與rs4803457位點非CC基因型相比較，CC基因型的OR值為1.75（95%CI=1.11-2.75），即具有rs4803457位點CC基因型患PCOS的風險是其他基因型的1.75倍，并且與年齡、BMI有一定的相互作用。 4、TGF-β1基因rs11466313、rs2217130、rs1800470位點的基因型頻率分布及等位基因頻率分布無統(tǒng)計學差異（P＞0.05）。rs1800469位點基因型頻率分布無統(tǒng)計學差異，但等位基因頻率分布有統(tǒng)計學差異（P＜0.05）。 5、研究群體TGF-β1基因5個研究位點間均存在連鎖不平衡，其中，rs4803457、rs11466313、rs1800469和rs1800470之間具有強LD關系（D’＞0.8，r2＞0.8）。 6、單體型分析發(fā)現(xiàn)由該5個位點構成的T-CCC、C-CCC、C-CTC單體型頻率在PCOS組中明顯增加，與對照組相比有統(tǒng)計學差異（P＜0.01）。 7、建立多因素logistic回歸模型分析顯示，經(jīng)校正年齡、體重指數(shù)（BMI）后，以野生型等位基因組成的單體型T-CTC作為對照，單體型T-CCC、C-CCC、C-CTC可能是PCOS易感性的致病性因素（OR值分別為3.20、5.65、5.74；95%CI分別為1.56-6.55、1.59-20.02、2.84-11.59）。 結論： 1、TGF-β1基因SNPs rs4803457C/T、 rs1800469C/T基因多態(tài)可能與中國廣東地區(qū)漢族婦女PCOS發(fā)生有關，而暫未發(fā)現(xiàn)rs11466313、rs2317130、rs1800470位點多態(tài)與PCOS發(fā)生有關。 2、TGF-β1基因SNP rs4803457位點CC基因型可能是PCOS的危險因素。 3、5個多態(tài)位點構成的T-CCC、C-CCC、C-CTC單體型可能是中國廣東地區(qū)漢族婦女PCOS的危險因素。
[Abstract]:Objective: to investigate the single nucleotide polymorphisms of 5 loci of TGF- 尾 1 gene, rs4803457rs11466313rs2317130, rs1800469, rs1800470) and their association with polycystic ovary syndrome (PCOS) in Chinese Han women. Methods: 328 patients with polycystic ovary syndrome (PCOS) and 358 normal women were studied by case-control study. Polymerase chain reaction (PCR) and Snapshot technique were used to detect the genotyping of TGF- 尾 1 gene at 5: rs4803457C / Tr / R / R 11466313 deletions rs2317130 / C / T / Rs1800469 C / T / 1800470C / T, and to analyze the linkage imbalance and haplotype of the five loci. To compare the relationship between different genotypes and haplotypes and the risk of polycystic ovary syndrome (PCOS). Results: 1. There is a polymorphic locus of TGF- 尾 1 gene rs4803457rs11466313rs2317130rs1800469rs1800469 in Han women in Guangdong, China. (2) the frequencies of TGF- 尾 1 rs4803457 locus TTT / CTCC genotype in PCOS group were 28.05, 48.78% and 23.1717g / T, 38.13% and 61.87%, respectively, and the frequencies in the control group were 36.599.49% and 15.922% respectively, and 60.34T allele frequencies in the two groups were 39.66% and 60.34% respectively, and the frequencies of TGF- 尾 1 gene were 38.13% and 61.87% respectively in the PCOS group, and the frequencies in the control group were 39.66% and 60.34%, respectively, and the frequencies in the control group were 39.66% and 60.34%, respectively. There was statistical difference between the frequency distribution of factor and allele (P < 0.05). 3. The multivariate logistic regression model analysis showed that the age logistic and rs4803457 locus CC genotypes were included in the equation after the adjustment of age and BMI factors. Compared with non-CC genotypes of rs4803457 locus, the OR of CC genotype was 1.75 ~ (95) CI = 1.11-2.75, that is to say, CC genotype with rs4803457 locus was 1.75 times more likely to have PCOS than other genotypes, and there was some interaction between CC genotype and age. 4There was no significant difference in genotype frequency distribution and allelic frequency distribution of rs11466313nrs2217130 rs1800470 and allelic frequencies of TGF- 尾 1 gene (P > 0.05).rs1800469 locus), but there was significant difference in allelic frequency distribution (P < 0.05). 5. There was linkage disequilibrium among the five loci of TGF- 尾 1 gene in the study population. There was a strong LD relationship between rs4803457rs11466313rs1800469 and rs1800470. 6. Haplotype analysis showed that the haplotype frequency of T-CCCnC-CCCnC-CTC was significantly higher in PCOS group than that in control group (P < 0.01). 7. The multivariate logistic regression model analysis showed that after adjusting age and body mass index (BMI), using haplotype T-CTC composed of wild type alleles as control, the OR value of haplotype T-CCCfC C-CCCfC-CTC might be 3.2055.6BMI5.749595 CI was 1.56-6.555% 1.59-20.02U 2.84-11.59g, respectively. Conclusion: 1TGF- 尾 1 gene SNPs rs4803457C / T, rs1800469C/T gene polymorphism may be related to the occurrence of PCOS in Han women in Guangdong area of China, but no rs114663130rs2317130rs1800470 polymorphism has been found to be associated with the occurrence of PCOS. 2CC genotype at SNP rs4803457 site of TGF- 尾 1 gene may be a risk factor for PCOS. The haplotype of T-CCCU C-CCCnC-CTC composed of 3, 5 polymorphic loci may be a risk factor for PCOS in Han women in Guangdong area of China.
【學位授予單位】：廣州醫(yī)科大學
【學位級別】：碩士
【學位授予年份】：2014
【分類號】：R711.75

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