Association of polymorphisms in the elastin gene with sporadic ruptured intracranial aneurysms and unruptured intracranial aneurysms in Chinese patients
Association of polymorphisms in the elastin gene with sporadic ruptured intracranial aneurysms and unruptured intracranial aneurysms in Chinese patients
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中国患者弹性蛋白基因多态性与散发性颅内动脉瘤破裂和未破裂性颅内动脉瘤的关联
DOI：
10.3109/00207454.2013.763803
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发表时间：
2013-01
影响因子：
2.2
通讯作者：
Xiao, Anqi
中科院分区：
文献类型：
--
作者：
Zhang, Heng;Wang, Tinghua;You, Chao;Liu, Wenke;Zhao, Ke;Sun, Hong;Mao, Boyong;Li, Xuehua;Xiao, Anqi
弹性蛋白基因被认为是颅内动脉瘤发生的候选基因。我们调查了中国散发性蛛网膜下腔出血和未破裂动脉瘤患者弹性蛋白基因单核苷酸多态性（SNPs）的相关性。我们对446例（47.9%）IA患者（308例破裂和138例未破裂）和485例（52.1%）对照组弹性蛋白基因中的7个外显子和内含子SNP进行基因分型，然后评估其与散发性破裂和未破裂IA的等位基因相关性。我们发现IA与弹性蛋白基因中的两个SNP相关：rs 2071307（比值比2.87; 95%置信区间，2.26-3.64; p < 0.001）和rs 2856728（比值比2.12; 95%置信区间，1.71-2.62; p < 0.001）。此外，rs 2071307的次要等位基因（等位基因A）也与IA破裂相关; 31.3%的IA破裂患者为次要等位基因携带者，而只有23.2%的未破裂IA患者携带次要等位基因（比值比1.51; 95%置信区间，1.09-2.10; p = 0.013）。总之，我们的研究表明，弹性蛋白基因可能与IA的形成，重要的是，它也可能与IA的破裂。
It has been suggested that the elastin gene is a candidate gene for the development of intracranial aneurysms (IAs). We investigated the association of single-nucleotide polymorphisms (SNPs) in the elastin gene in sporadic subarachnoid hemorrhage and in patients with unruptured aneurysms in China. We genotyped 446 (47.9%) IA patients (308 ruptured and 138 unruptured) and 485 (52.1%) control subjects for seven exonic and intronic SNPs in the elastin gene and then evaluated their allelic associations with sporadic ruptured and unruptured IAs. We found that IA is associated with two SNPs in the elastin gene: rs2071307 (odds ratio 2.87; 95% confidence interval, 2.26–3.64; p < 0.001) and rs2856728 (odds ratio 2.12; 95% confidence interval, 1.71–2.62; p < 0.001). Furthermore, the minor allele of rs2071307 (allele A) was also associated with IA rupture; 31.3% of patients with ruptured IAs were carriers of the minor allele, whereas only 23.2% of patients with unruptured IAs carried the minor allele (odds ratio 1.51; 95% confidence interval, 1.09–2.10; p = 0.013). In conclusion, our study indicates that the elastin gene may be associated with the formation of IAs, and importantly, that it may also be associated with the rupture of IAs.
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影响因子：
8.3
作者：
Ruigrok, YM;Buskens, E;Rinkel, GJE
通讯作者：
Rinkel, GJE
影响因子：
30.8
作者：
通讯作者：
--
影响因子：
2.9
作者：
Krex, D;König, IR;Schackert, G
通讯作者：
Schackert, G
影响因子：
9.8
作者：
M. Dean;J. Stephens;Christoph Winkler;D. Lomb;M. Ramsburg;R. Boaze;C. Stewart;L. Charbonneau;D. Goldman;B. Albaugh
通讯作者：
M. Dean;J. Stephens;Christoph Winkler;D. Lomb;M. Ramsburg;R. Boaze;C. Stewart;L. Charbonneau;D. Goldman;B. Albaugh
影响因子：
30.8
作者：
Bilguvar, Kaya;Yasuno, Katsuhito;Niemela, Mika;Ruigrok, Ynte M.;Fraunberg, Mikael von und zu;van Duijn, Cornelia M.;van den Berg, Leonard H.;Mane, Shrikant;Mason, Christopher E.;Choi, Murim;Gaal, Emilia;Bayri, Yasar;Kolb, Luis;Arlier, Zulfikar;Ravuri, Sudhakar;Ronkainen, Antti;Tajima, Atsushi;Laakso, Aki;Hata, Akira;Kasuya, Hidetoshi;Koivisto, Timo;Rinne, Jaakko;Ohman, Juha;Breteler, Monique M. B.;Wijmenga, Cisca;State, Matthew W.;Rinkel, Gabriel J. E.;Hernesniemi, Juha;Jaaskelainen, Juha E.;Palotie, Aarno;Inoue, Ituro;Lifton, Richard P.;Guenel, Murat
通讯作者：
Guenel, Murat