EDNRA、CDKN2B-AS1、JDP2基因單核苷酸多態(tài)性與中國漢族人群散發(fā)顱內(nèi)動脈瘤關(guān)聯(lián)分析
發(fā)布時間：2018-11-20 15:36
【摘要】：目的：EDNRA、CDKN2B-AS1、JDP2基因在歐洲人和日本人中證實與顱內(nèi)動脈瘤高度相關(guān),但相關(guān)中國漢族人群中與EDNRA、CDKN2B-AS1、JDP2基因關(guān)聯(lián)性研究還未見報道。因此,我們選取在全基因組關(guān)聯(lián)研究(GWAS)及不同種族已知與顱內(nèi)動脈瘤相關(guān)的SNPs位點在中國漢族人群中驗證與顱內(nèi)動脈瘤的關(guān)聯(lián)性。方法：收集四川省地區(qū)已明確臨床診斷證明的顱內(nèi)動脈瘤患者靜脈血液樣本480例和與之地區(qū),年齡及性別相匹配的正常對照576例,采用病例對照研究方法,通過SNaPShot單堿基延伸法,分析EDNRA、CDKN2B-AS1、JDP2基因相關(guān)SNPs與中國漢族顱內(nèi)動脈瘤關(guān)聯(lián)性。結(jié)果：三個候選基因全部SNPs位點均符合哈迪-溫伯格平衡(Hardy Weinberg Equilibrium,HWE)(P0.05)。EDNRA基因上游rs6842241C等位基因頻率(P=0.002,OR=1.37,95%CI:1.13-1.68),顯性遺傳模型(Mm+mm vs. MM)中IAs組患病風險是對照組的1.91倍(P=0.021,95%CI：1.09-3.33)；在隱性模型(MM+Mm vs. mm)中IAs組患病風險是對照組的1.42倍(P=0.005,95%CI:1.11-1.81)。rs6841581G等位基因頻率(P=0.005,OR=1.32,95%CI：1.09-1.60)在隱性模型中IAs組患病風險是對照組的1.41倍(P=0.006,95%CI：1.11-1.80)；顯性模型中IAs組與對照組之間沒有統(tǒng)計學差異(P0.05)。CDKN2B-AS1基因rs1333040T等位基因(P=7.21E-05,OR=1.44,95%CI：1.20-1.73),顯性模型中IAs組患病風險是對照組的1.48倍(P=0.038,95%CI：1.02-2.14)；在隱性模型中IAs組患病風險是對照組的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),在顯性模型中IAs組患病風險是對照組的1.96倍(P=3.50E-04,95%CI：1.35-2.84)；在隱性模型中IAs組患病風險是對照組的1.38倍(P=0.011,95%CI：1.08-1.76)。CDKN2B-AS1基因rs10757270位點和JDP2基因rs741846、rs175646、rs8215位點,顱內(nèi)動脈瘤組與對照組之間無統(tǒng)計學差異。結(jié)論：EDNRA基因上游rs6842241、rs6841581SNP位點和CDKN2B-AS1基因rs1333040、 rs10757272SNP位點與中國漢族人顱內(nèi)動脈瘤發(fā)病相關(guān)聯(lián),而CDKN2B-AS1基因rs10757270位點和JDP2基因rs741846、rs175646、rs8215三個SNPs位點與中國漢族人顱內(nèi)動脈瘤不相關(guān)。
[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.
【學位授予單位】：瀘州醫(yī)學院
【學位級別】：碩士
【學位授予年份】：2014
【分類號】：R743
本文編號：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.
【學位授予單位】：瀘州醫(yī)學院
【學位級別】：碩士
【學位授予年份】：2014
【分類號】：R743
【參考文獻】
相關(guān)期刊論文 前1條
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
，本文編號：2345291
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