垂体同源盒2和组蛋白去乙酰化酶9基因多态性与缺血性脑卒中MRI表现的关系

Association of pituitary homeobox 2 and histone deacetylase 9 gene polymorphisms with MRI findings of ischemic stroke

目的探讨垂体同源盒2(PITX2)基因位点rs6843082、rs2200733和组蛋白去乙酰化酶9(HADC9)基因位点rs2107595多态性与缺血性脑卒中MRI影像学表现的关系。方法收集631例缺血性脑卒中患者的头颅MRI影像资料,包括病灶部位、数目、大小及对周围组织的影响。采用Sequenom基因分型技术检测所有患者外周血基因位点rs6843082、rs2200733和rs2107595的基因分型,并运用PLINK软件分析基因多态性位点(加性模型、显性模型、隐性模型、等位基因模型)与MRI表现的关联性。结果 rs6843082的加性模型、显性模型、等位基因模型与缺血性脑卒中发生在枕叶均有关联(P<0.05);rs2200733的隐性模型与缺血性脑卒中发生在枕叶、显性模型与缺血性脑卒中发生在颞叶均有关联(P<0.05);rs2107595的显性模型与缺血性脑卒中发生在丘脑及顶叶、隐性模型与缺血性脑卒中发生枕叶在均有关联(P<0.05)。3个基因位点多态性与病灶数目、病灶大小以及病灶对周围组织的影响均无关联(P>0.05)。结论 PITX2和HADC9基因多态性可能与缺血性脑卒中的MRI病灶部位相关。

Objective To explore the association of pituitary homeobox 2（ PITX2） gene（ rs6843082 and rs2200733） and histone deacetylase 9（ HADC9） gene（ rs2107595） polymorphisms with MRI findings of ischemic stroke. Methods The data of brain MRI from 631 ischemic stroke patients were collected,including sites,amount,size,and influence on surrounding tissues of lesions. Sequenom genotyping technology was used to detect the genotype of rs6843082,rs2200733 and rs2107595 in peripheral blood of all patients. Then PLINK software was used to analyze the association between the polymorphisms（ including additive model,dominant model,recessive model and allele model）and the MRI findings. Results The additive model,dominant model and allele model of rs6843082 were related to the occurrence of ischemic stroke in occipital lobe（ P 0. 05）. The recessive model and dominant model of rs2200733 were related to the occurrence of ischemic stroke in occipital lobe and temporosphenoid lobe respectively（ P 0. 05）. The dominant model of rs2107595 was related to the occurrence of ischemic stroke in thalamus and parietal lobe（ P 0. 050）,and recessive model of rs2107595 was related to the occurrence of ischemic stroke in occipital lobe（ P 0. 05）. The polymorphisms of the three gene locus were not related to the amount,size or influence on surrounding tissues of lesions（ P 0. 05）. Conclusion PITX2 and HADC9 gene polymorphisms may be associated with the MRI findings of ischemic stroke.