Jeon Jin Pyeong, Hong Eun Pyo, Kim Jeong Eun, Ha Eun Jin, Cho Won-Sang, Son Young-Je, Bang Jae Seung, Oh Chang Wan
Department of Neurosurgery, Hallym University College of Medicine.
Institute of New Frontier Research, Hallym University College of Medicine.
Neurol Med Chir (Tokyo). 2018 Jan 15;58(1):17-22. doi: 10.2176/nmc.oa.2017-0138. Epub 2017 Nov 10.
Elastin encoded by elastin gene (ELN) is a crucial extracellular matrix protein responsible for arterial resilience. The objective of this study was to identify single nucleotide polymorphisms (SNPs) of ELN gene susceptible to intracranial aneurysm (IA) in Korean population. Two SNPs of ELN gene, rs2071307 (Gly422Ser) and rs2856728 (intron), were genotyped in 90 patients with IA and 90 age and frequency matched controls. Fisher's exact test was conducted to evaluate allelic association with IA. Of the two SNPs in ELN gene, T allele of rs2856728 (intron) showed statistically significant association with increased development of IA (odds ratio [OR]: 2.34, 95% confidence interval [CI]: 1.44-3.81, P = 7.6 × 10). However, G allele of rs2071307 (Gly422Ser) had no significant association with the development of IA (OR: 1.27, 95% CI: 1.44-3.81, P = 0.607). Interestingly, the odds of having rs2856728 variant was approximately 2-fold higher in males than that in females (OR: 3.46 vs. 1.88, P < 0.05). However, none of SNPs showed difference between single and multiple IA in this study. This preliminary study implies that the rs2856728 variant in ELN gene polymorphisms might play crucial roles in the development and pathogenesis of IA in Korean population.
由弹性蛋白基因（ELN）编码的弹性蛋白是一种关键的细胞外基质蛋白，负责动脉弹性。本研究的目的是在韩国人群中鉴定易患颅内动脉瘤（IA）的ELN基因单核苷酸多态性（SNP）。对90例IA患者以及90例年龄和频率匹配的对照者进行ELN基因的两个SNP，即rs2071307（Gly422Ser）和rs2856728（内含子）的基因分型。采用Fisher精确检验评估等位基因与IA的关联。在ELN基因的两个SNP中，rs2856728（内含子）的T等位基因与IA发生风险增加具有统计学意义的关联（优势比[OR]：2.34，95%置信区间[CI]：1.44 - 3.81，P = 7.6×10）。然而，rs2071307（Gly422Ser）的G等位基因与IA的发生无显著关联（OR：1.27，95% CI：1.从统计学意义的关联（优势比[OR]：2.34，95%置信区间[CI]：1.44 - 3.81，P = 7.6×10）。然而，rs2071307（Gly422Ser）的G等位基因与IA的发生无显著关联（OR：1.27，95% CI：1.44 - 3.81，P = 0.607）。有趣的是，携带rs2856728变异体的男性几率约为女性的2倍（OR：3.46对1.88，P < 0.05）。然而，在本研究中，没有一个SNP在单发和多发IA之间显示出差异。这项初步研究表明，ELN基因多态性中的rs2856728变异体可能在韩国人群IA的发生和发病机制中起关键作用。 44 - 3.81，P = 0.607）。有趣的是，携带rs2856728变异体的男性几率约为女性的2倍（OR：3.46对1.88，P < 0.05）。然而，在本研究中，没有一个SNP在单发和多发IA之间显示出差异。这项初步研究表明，ELN基因多态性中的rs2856728变异体可能在韩国人群IA的发生和发病机制中起关键作用。
