Voevoda M I, Kulikov I V, Maksimov V N, Smirnova Iu V
Kardiologiia. 2009;49(7-8):46-9.
Aim of the study was identification of genes and their polymorphisms associated with pathological tortuosity (PT) of internal carotid arteries (ICA) for elucidation of etiological causes of this anomaly taking into consideration its high prevalence and clinical significance. We invited for examination 61 families of children with previously diagnosed PT ICA and used color Doppler duplex scanning of brachiocephalic zone in examination of close relatives of a proband. Samples of venous blood were taken from a family member in whom PT ICA had been detected and the affected child. The group of patients for genotyping comprised 100 individuals with PT ICA. Control group (n=245) was formed from DNA bank on the basis of population approach. The following genetic methods of diagnosis were applied: clinico-genealogical, allele specific polymerase chain reaction, search in available data bases of PT ICA candidate genes and their polymorphisms. According to data of genealogy analysis in most cases inheritance of pathological sign of tortuous ICA was autosomal dominant (37.7%) or autosomal-recessive (39.3%). Association of A80807T polymorphism of the transcriptional factor Sp4 gene with PT ICA was established. Probability of PT ICA in A80807/A80807 homozygotes was 1.64 times higher than in carriers of 2 other genotypes (A80807/T80807 and T80807/T80807).
本研究的目的是识别与颈内动脉（ICA）病理性迂曲（PT）相关的基因及其多态性，鉴于其高患病率和临床意义，以阐明这种异常的病因。我们邀请了61个先前诊断为ICA PT的儿童家庭进行检查，并在对先证者的近亲进行检查时使用了头臂区彩色多普勒双功扫描。从检测到ICA PT的家庭成员和患病儿童身上采集静脉血样本。用于基因分型的患者组包括100名ICA PT患者。对照组（n = 245）是根据人群方法从DNA库中选取的。应用了以下基因诊断方法：临床系谱分析、等位基因特异性聚合酶链反应、在ICA PT候选基因及其多态性的现有数据库中进行搜索。根据系谱分析数据，在大多数情况下，ICA迂曲的病理特征遗传为常染色体显性遗传（37.7%）或常染色体隐性遗传（39.3%）。已确定转录因子Sp4基因的A80807T多态性与ICA PT相关。A80807/A80807纯合子发生ICA PT的概率比其他两种基因型（A80807/T80807和T80807/T80807）的携带者高1.64倍。
