EDNRA、CDKN2B-AS1、JDP2基因单核苷酸多态性与中国汉族人群散发颅内动脉瘤关联分析
发布时间：2018-11-20 15:36
【摘要】：目的：EDNRA、CDKN2B-AS1、JDP2基因在欧洲人和日本人中证实与颅内动脉瘤高度相关,但相关中国汉族人群中与EDNRA、CDKN2B-AS1、JDP2基因关联性研究还未见报道。因此,我们选取在全基因组关联研究(GWAS)及不同种族已知与颅内动脉瘤相关的SNPs位点在中国汉族人群中验证与颅内动脉瘤的关联性。方法：收集四川省地区已明确临床诊断证明的颅内动脉瘤患者静脉血液样本480例和与之地区,年龄及性别相匹配的正常对照576例,采用病例对照研究方法,通过SNaPShot单碱基延伸法,分析EDNRA、CDKN2B-AS1、JDP2基因相关SNPs与中国汉族颅内动脉瘤关联性。结果：三个候选基因全部SNPs位点均符合哈迪-温伯格平衡(Hardy Weinberg Equilibrium,HWE)(P0.05)。EDNRA基因上游rs6842241C等位基因频率(P=0.002,OR=1.37,95%CI:1.13-1.68),显性遗传模型(Mm+mm vs. MM)中IAs组患病风险是对照组的1.91倍(P=0.021,95%CI：1.09-3.33)；在隐性模型(MM+Mm vs. mm)中IAs组患病风险是对照组的1.42倍(P=0.005,95%CI:1.11-1.81)。rs6841581G等位基因频率(P=0.005,OR=1.32,95%CI：1.09-1.60)在隐性模型中IAs组患病风险是对照组的1.41倍(P=0.006,95%CI：1.11-1.80)；显性模型中IAs组与对照组之间没有统计学差异(P0.05)。CDKN2B-AS1基因rs1333040T等位基因(P=7.21E-05,OR=1.44,95%CI：1.20-1.73),显性模型中IAs组患病风险是对照组的1.48倍(P=0.038,95%CI：1.02-2.14)；在隐性模型中IAs组患病风险是对照组的1.66倍(P=5.6E-05,95%CI：1.30-2.12)。rs10757272T等位基因(P=2.94E-04,OR=1.39,95%CI：1.16-1.66),在显性模型中IAs组患病风险是对照组的1.96倍(P=3.50E-04,95%CI：1.35-2.84)；在隐性模型中IAs组患病风险是对照组的1.38倍(P=0.011,95%CI：1.08-1.76)。CDKN2B-AS1基因rs10757270位点和JDP2基因rs741846、rs175646、rs8215位点,颅内动脉瘤组与对照组之间无统计学差异。结论：EDNRA基因上游rs6842241、rs6841581SNP位点和CDKN2B-AS1基因rs1333040、 rs10757272SNP位点与中国汉族人颅内动脉瘤发病相关联,而CDKN2B-AS1基因rs10757270位点和JDP2基因rs741846、rs175646、rs8215三个SNPs位点与中国汉族人颅内动脉瘤不相关。
[Abstract]:Objective: To study the relationship between EDNRA, CDKN2B-AS1 and JDP2 gene in the European and Japanese patients, but the association of EDNRA, CDKN2B-AS1 and JDP2 in the relevant Chinese Han population is not reported. Therefore, we selected the association of the SNPs site associated with the intracranial aneurysm in the Chinese Han population in the full-genome association study (GWAS) and the different races known to be associated with the intracranial aneurysm. Methods: 480 cases of intracranial aneurysm with intracranial aneurysm and 576 normal controls matched with the area, age and sex were collected in Sichuan Province. The case-control method was used to analyze the EDNRA and CDKN2B-AS1 by the method of single base extension of SNaPShot. The relationship between the related SNPs of the JDP2 gene and the intracranial aneurysm in the Chinese Han population. Results: All the SNPs in the three candidate genes were in accordance with Hardy Weinberg Equilibrium (HWE) (P0.05). The allele frequency of rs6842241C upstream of the EDNRA gene (P = 0.002, OR = 1.37, 95% CI: 1.13-1.68), and the risk of the IAs in the dominant genetic model (Mm + mm vs. MM) was 1.91-fold in the control group (P = 0.021, 95% CI: 1.09-3.33); The risk of the IAs group in the recessive model (MM + Mm vs. mm) was 1.42-fold in the control group (P = 0.005, 95% CI: 1.11-1.81). The frequency of the rs6841581G allele (P = 0.005, OR = 1.32, 95% CI: 1.09-1.60) was 1.41-fold (P = 0.006, 95% CI: 1.11-1.80) in the control group. There was no statistical difference between the IAs group and the control group in the dominant model (P = 7.21E-05, OR = 1.44, 95% CI: 1.20-1.73). The risk of the IAs group in the dominant model was 1.48-fold (P = 0.038, 95% CI: 1.02-2.14) in the control group; the risk of the IAs group in the recessive model was 1.66-fold (P = 5.6E-05, 95% CI: 1.30-2.12). rs10757272T allele (P = 2.94E-04, OR = 1.39, 95% CI: 1.16-1.66). The risk of the IAs group in the dominant model was 1.96-fold in the control group (P = 3.50E-04, 95% CI: 1.35-2.84); the risk of the IAs group in the recessive model was 1.38-fold (P = 0.011, 95% CI: 1.08-1.76) of the control group. The CDKN2B-AS1 gene rs10757270 and the JDP2 gene rs741846, rs175646, rs8215, and the intracranial aneurysm group were not statistically different from the control group. Conclusion: The rs6842241, rs6841581SNP site and the CDKN2B-AS1 gene rs1333040, rs10757272SNP site of the EDNRA gene are associated with the pathogenesis of the intracranial aneurysm in the Chinese Han population, while the CDKN2B-AS1 gene rs10757270 and the JDP2 gene rs741846, rs175646 and rs8215 are not related to the intracranial aneurysm of the Chinese Han population.
【学位授予单位】：泸州医学院
【学位级别】：硕士
【学位授予年份】：2014
【分类号】：R743
本文编号：2345291
[Abstract]:Objective: To study the relationship between EDNRA, CDKN2B-AS1 and JDP2 gene in the European and Japanese patients, but the association of EDNRA, CDKN2B-AS1 and JDP2 in the relevant Chinese Han population is not reported. Therefore, we selected the association of the SNPs site associated with the intracranial aneurysm in the Chinese Han population in the full-genome association study (GWAS) and the different races known to be associated with the intracranial aneurysm. Methods: 480 cases of intracranial aneurysm with intracranial aneurysm and 576 normal controls matched with the area, age and sex were collected in Sichuan Province. The case-control method was used to analyze the EDNRA and CDKN2B-AS1 by the method of single base extension of SNaPShot. The relationship between the related SNPs of the JDP2 gene and the intracranial aneurysm in the Chinese Han population. Results: All the SNPs in the three candidate genes were in accordance with Hardy Weinberg Equilibrium (HWE) (P0.05). The allele frequency of rs6842241C upstream of the EDNRA gene (P = 0.002, OR = 1.37, 95% CI: 1.13-1.68), and the risk of the IAs in the dominant genetic model (Mm + mm vs. MM) was 1.91-fold in the control group (P = 0.021, 95% CI: 1.09-3.33); The risk of the IAs group in the recessive model (MM + Mm vs. mm) was 1.42-fold in the control group (P = 0.005, 95% CI: 1.11-1.81). The frequency of the rs6841581G allele (P = 0.005, OR = 1.32, 95% CI: 1.09-1.60) was 1.41-fold (P = 0.006, 95% CI: 1.11-1.80) in the control group. There was no statistical difference between the IAs group and the control group in the dominant model (P = 7.21E-05, OR = 1.44, 95% CI: 1.20-1.73). The risk of the IAs group in the dominant model was 1.48-fold (P = 0.038, 95% CI: 1.02-2.14) in the control group; the risk of the IAs group in the recessive model was 1.66-fold (P = 5.6E-05, 95% CI: 1.30-2.12). rs10757272T allele (P = 2.94E-04, OR = 1.39, 95% CI: 1.16-1.66). The risk of the IAs group in the dominant model was 1.96-fold in the control group (P = 3.50E-04, 95% CI: 1.35-2.84); the risk of the IAs group in the recessive model was 1.38-fold (P = 0.011, 95% CI: 1.08-1.76) of the control group. The CDKN2B-AS1 gene rs10757270 and the JDP2 gene rs741846, rs175646, rs8215, and the intracranial aneurysm group were not statistically different from the control group. Conclusion: The rs6842241, rs6841581SNP site and the CDKN2B-AS1 gene rs1333040, rs10757272SNP site of the EDNRA gene are associated with the pathogenesis of the intracranial aneurysm in the Chinese Han population, while the CDKN2B-AS1 gene rs10757270 and the JDP2 gene rs741846, rs175646 and rs8215 are not related to the intracranial aneurysm of the Chinese Han population.
【学位授予单位】：泸州医学院
【学位级别】：硕士
【学位授予年份】：2014
【分类号】：R743
【参考文献】
相关期刊论文 前1条
1 Wei-Tao Cheng;Ning Wang;;Correlation between MMP-2 and NF-κ B expression of intracranial aneurysm[J];Asian Pacific Journal of Tropical Medicine;2013年07期
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