Department of Forensic Biology, West China School of Preclinical and Forensic Medicine, Sichuan University, Chengdu, 610041, Sichuan, People's Republic of China.
Mol Biol Rep. 2012 Dec;39(12):11217-23. doi: 10.1007/s11033-012-2031-z. Epub 2012 Oct 12.
Several lines of evidence indicate that inflammatory processes play pivotal role in the development of intracranial aneurysm (IA). Recently, polymorphisms in the interleukin-12 (IL-12) gene were shown to be associated with immune-mediated inflammatory disease. The aim of this study was to investigate the interactions of IL-12A and IL-12B polymorphisms on the risk of IA in a Chinese population. A total of 422 individuals (including 164 patients with IA and 258 controls) were involved in the study. The polymorphisms (i.e., rs2243115 and rs568408 in IL-12A and rs3212227 in IL-12B) were genotyped by polymerase chain reaction-restriction fragment length polymorphism assay and DNA sequencing. We found an association of the AC/CC genotypes and C allele of IL-12B rs3212227 with an increased risk of IA, compared with the AA genotype and A allele (AC/CC vs. AA: OR = 2.09, 95 % CI: 1.29-3.38; C vs. A: OR = 1.45, 95 % CI: 1.10-1.91). Moreover, a significant gene interaction of IL-12A and IL-12B was evident on the risk of IA, and subjects carrying variant genotypes of IL-12B rs3212227 had an increased risk of IA. In the stratified analysis by gender, the IL-12B rs3212227 AC/CC genotypes had an increased risk of IA compared with the AA genotype in male patients (AC/CC vs. AA: OR = 4.63, 95 % CI: 1.92-11.16). These findings suggest that the IL-12A and IL-12B independently and jointly be involved in the susceptibility to IA.
有几条证据表明炎症过程在颅内动脉瘤 (IA) 的发展中起着关键作用。最近，白细胞介素-12 (IL-12) 基因的多态性与免疫介导的炎症性疾病有关。本研究旨在调查白细胞介素-12A 和白细胞介素-12B 多态性在中国人群中与 IA 风险的相互作用。共有 422 人（包括 164 例 IA 患者和 258 例对照）参与了这项研究。通过聚合酶链反应-限制性片段长度多态性分析和 DNA 测序检测了多态性（即 IL-12A 中的 rs2243115 和 rs568408 以及 IL-12B 中的 rs3212227）。我们发现与 AA 基因型和 A 等位基因相比，IL-12B rs3212227 的 AC/CC 基因型和 C 等位基因与 IA 风险增加相关（AC/CC 与 AA：OR=2.09，95%CI：1.29-3.38；C 与 A：OR=1.45，95%CI：1.10-1.91）。此外，IL-12A 和 IL-12B 的基因相互作用对 IA 的发病风险有显著影响，携带 IL-12B rs3212227 变异基因型的个体 IA 发病风险增加。在按性别分层的分析中，与 AA 基因型相比，男性患者的 IL-12B rs3212227 AC/CC 基因型 IA 风险增加（AC/CC 与 AA：OR=4.63，95%CI：1.92-11.16）。这些发现表明 IL-12A 和 IL-12B 独立且共同参与了 IA 的易感性。
