本文選題：骨橋蛋白 + 基因多態(tài)性��； 參考：《南昌大學》2014年碩士論文

【摘要】：目的： 探討骨橋蛋白（osteopontin，OPN）基因多態(tài)性與江西贛南地區(qū)特發(fā)性草酸鈣結(jié)石（idiopathic calcium oxalate stones，ICS）的相關(guān)性。 方法： 收集2012年7月至2013年12月江西贛南地區(qū)218例ICS患者（ICS組）和同期187例正常人群（對照組）外周血液及部分研究對象尿液標本。采用Logistic回歸模型分析ICS形成的影響因素，，如年齡、性別、身體質(zhì)量指數(shù)（bodymass index，BMI）以及尿液和血液生化指標等；實時熒光定量聚合酶鏈式反應(yīng)（real-time polymerase chain reaction，Real-time PCR）TaqMan-MGB探針法檢測OPN基因rs6840362、rs6532040和rs11439060位點單核苷酸多態(tài)性（singlenucleotide polymorphism，SNP），分析OPN基因型和單體型與ICS的相關(guān)性。 結(jié)果： 單因素分析顯示，ICS組BMI和尿液鈣離子濃度顯著高于對照組，而尿液PH值和每日液體攝入量顯著低于對照組（P0.05）。進一步對上述影響因素行Logistic回歸分析，發(fā)現(xiàn)尿液鈣離子濃度在兩組間的差異仍具有統(tǒng)計學意義（P=0.000）。兩組人群中，OPN基因三個位點基因型頻率分布均符合Hardy-Weinberg平衡定律。rs11439060位點，ICS組和對照組delG、G等位基因頻率分別為:69%、31%和57%、43%，差異具有統(tǒng)計學意義（P=0.000）；ICS組和對照組delGdelG、delGG和GG基因型頻率分別為45.9%、46.3%、7.8%和32.1%、49.7%，18.2%，以GG基因型為參照，兩組間delGdelG和delGG基因型差異有統(tǒng)計學意義（P=0.000，OR=3.333，95%CI=1.715~6.478和P=0.017，OR=2.172，95%CI=1.138~4.147）。rs6840362位點，ICS組和對照組C、T等位基因頻率分別為:91.7%、8.3%和95.7%、4.3%，差異具有統(tǒng)計學意義（P=0.021）。rs6532040位點，ICS組和對照組A、G等位基因頻率分別為:90.1%、9.9%和94.4%、5.6%，差異具有統(tǒng)計學意義（P=0.026）。rs6840362和rs6532040位點基因型兩組間差異無統(tǒng)計學意義（P0.05）。各基因型與臨床表型的相關(guān)性分析，差異無統(tǒng)計學意義（P0.05）。OPN基因單體型分析顯示，C-G-delG單體型與ICS的形成呈正相關(guān)（OR=6.326，95%CI=1.958~20.442），C-A-G與ICS的形成呈負相關(guān)（OR=0.600，95%CI=0.448~0.804）。 結(jié)論： 1. OPN基因多態(tài)性與贛南地區(qū)ICS形成顯著相關(guān)。其中攜帶rs11439060位點delGdelG、delGG基因型和C-G-delG單體型個體患ICS的風險較高；而攜帶rs11439060位點GG基因型和C-A-G單體型個體患ICS的風險較低。 2.尿液鈣離子濃度增加可能是ICS形成的危險因素。
[Abstract]:Objective: to investigate the association between osteopontinin (OPN) gene polymorphism and idiopathic calcium oxalate stone (calcium oxalate) in southern Jiangxi province. Methods: from July 2012 to December 2013, the peripheral blood fluid and urine samples of 218 patients with ICS in Gannan area of Jiangxi Province and 187 normal controls (control group) were collected. Logistic regression model was used to analyze the influencing factors of ICS formation, such as age, sex, body mass index (BMI), urine and blood biochemical indexes. Real-time polymerase chain reactionation real-time PCR TaqMan-MGB probe method was used to detect rs6840362 rs6532040 and single nucleotide polymorphisms of rs11439060 locus (SNPs 6532040). The correlation between rs11439060 genotype and haplotype was analyzed. Results: univariate analysis showed that BMI and urine calcium concentration in ICS group were significantly higher than those in control group, while urine PH value and daily fluid intake were significantly lower than those in control group (P 0.05). Logistic regression analysis of the above factors showed that the difference of urine calcium concentration between the two groups was still statistically significant. The genotype frequencies of three sites of OPN gene in the two groups were in accordance with Hardy-Weinberg equilibrium law. The allele frequencies of delGnG in the ICS group and the control group were 31% and 57%, respectively. The difference was statistically significant (P < 0. 000). The genotype frequencies of delGG and GG in ICS group and control group were 45.9% and 46.8% and 32.1%, respectively. There were significant differences between the two groups in the genotype frequencies of CT alleles in the delGdelG and delGG genotypes. The frequencies of CT alleles were 91.773% in ICS group and 9.3% in control group, respectively. The difference was statistically significant. The frequency of CT alleles in ICS group and control group was 90.1% and 9.9% respectively, and the frequency of CT allele was 91.773% in ICS group and 9.9% in control group. There was a significant difference between the two groups. There was a significant difference in the frequency of CT alleles between the two groups (P = 3.33395). The frequencies of CT alleles in the ICS group and the control group were 90.1% and 9.9%, respectively, and the frequencies of CT alleles in the ICS group and the control group were 90.1% and 9.9%, respectively. There was no significant difference between the two groups (P < 0.05) and the genotype of rs6532040 locus (P < 0.05). There was no significant difference between the genotype and clinical phenotype. The haplotype analysis of C-G-delG gene showed that there was a positive correlation between C-G-delG haplotype and the formation of ICS. There was a negative correlation between C-A-G and the formation of ICS. There was a negative correlation between C-G-delG haplotype and the formation of ICS, and there was a negative correlation between C-G-delG haplotype and the formation of ICS. Conclusion: 1. OPN gene polymorphism was significantly associated with ICS formation in southern Jiangxi. Among them, the individuals carrying rs11439060 locus delGdelGG genotype and C-G-delG haplotype individuals had a higher risk of ICS, while those with rs11439060 locus GG genotype and C-A-G haplotype individuals had a lower risk of ICS. 2. An increase in urine calcium concentration may be a risk factor for the formation of ICS.
【學位授予單位】：南昌大學
【學位級別】：碩士
【學位授予年份】：2014
【分類號】：R691.4

【參考文獻】

相關(guān)期刊論文 前3條

1 康靜婷;梁前進;;單核苷酸多態(tài)性的研究及其生物學意義[J];生物學通報;2012年03期

2 陳嵐;滿瑞林;李志明;;草酸鈣結(jié)石形態(tài)的紅外光譜分析[J];分析測試學報;2007年04期

3 李婧,潘玉春,李亦學,石鐵流;人類基因組單核苷酸多態(tài)性和單體型的分析及應(yīng)用[J];遺傳學報;2005年08期

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