Tian D Z, Wei W, Dong Y J
Department of Neurosurgery, Cardiovascular Specialist Units, Affiliated Hospital of Yanan University, Yanan, China.
Genet Mol Res. 2016 Feb 22;15(1):gmr7369. doi: 10.4238/gmr.15017369.
Type I collagen (transcribed by COL1A1 and COL1A2 genes) is important for maintaining vessel wall elasticity and is a critical part of the extracellular matrix. We conducted a case-control study to investigate the role of the COL1A2 rs42524 polymorphism in the development of hypertensive intracerebral hemorrhage. Between January 2012 and December 2014, a total of 227 patients with hypertensive intracerebral hemorrhage and 227 controls were selected from the Affiliated Hospital of Yanan University (China). Genotyping of the COL1A2 rs42524 polymorphism was performed using polymerase chain reaction coupled with restriction fragment length polymorphism. By logistic regression analysis, we found that the CC genotype was associated with increased risk of hypertensive intracerebral hemorrhage as compared to the GG genotype (OR = 12.67, 95%CI = 3.03-112.11). In a dominant model, the GC + CC genotype of the COL1A2 rs42524 polymorphism was associated with a 2.57-fold increased risk of hypertensive intracerebral hemorrhage as compared to the GG genotype. In a recessive model, the CC genotype of the COL1A2 rs42524 polymorphism was correlated with a higher risk of hypertensive intracerebral hemorrhage as compared to the GG + GC genotype (OR = 12.07, 95%CI = 2.89-106.75). The GC and CC genotypes of the COL1A2 rs42524 polymorphism were associated with a substantial risk of hypertensive intracerebral hemorrhage among patients who consumed alcohol and used tobacco. In conclusion, our study suggests that the COL1A2 rs42524 polymorphism is associated with the development of hypertensive intracerebral hemorrhage, particularly in conjunction with tobacco use and alcohol consumption.
I型胶原蛋白（由COL1A1和COL1A2基因转录）对于维持血管壁弹性很重要，是细胞外基质的关键组成部分。我们进行了一项病例对照研究，以调查COL1A2 rs42524多态性在高血压性脑出血发生中的作用。2012年1月至2014年12月期间，从延安大学附属医院（中国）选取了227例高血压性脑出血患者和227例对照。采用聚合酶链反应结合限制性片段长度多态性方法对COL1A2 rs42524多态性进行基因分型。通过逻辑回归分析，我们发现与GG基因型相比，CC基因型与高血压性脑出血风险增加相关（OR = 12.67，95%CI = 3.03 - 112.11）。在显性模型中，与GG基因型相比，COL1A2 rs42524多态性的GC + CC基因型与高血压性脑出血风险增加2.57倍相关。在隐性模型中，与GG + GC基因型相比，COL1A2 rs42524多态性的CC基因型与高血压性脑出血风险更高相关（OR = 12.07，95%CI = 2.89 - 106.75）。COL1A2 rs42524多态性的GC和CC基因型与饮酒和吸烟患者发生高血压性脑出血的高风险相关。总之，我们的研究表明，COL1A2 rs42524多态性与高血压性脑出血的发生相关，特别是与吸烟和饮酒同时存在时。
