Association between single nucleotide polymorphisms of tropoelastin gene and aortic dissection

• Published in: Zhong nan da xue xue bao. Journal of Central South University. Yi xue ban Vol. 46; no. 5; p. 458
• Main Authors: Qi, Youfei, Shu, Chang, Liu, Sahua, Chen, Hao, Zhang, Wenbo
• Format: Journal Article
• Language: English
• Published: China 28.05.2021
• Subjects: Aortic Dissection - genetics; Elastic Tissue; Elastin - genetics; Humans; Polymorphism, Single Nucleotide; Tropoelastin - genetics; haplotype; single nucleotide polymorphisms; aortic dissection; elastin; tropoelastin gene
• ISSN: 1672-7347
• DOI: 10.11817/j.issn.1672-7347.2021.200624

To evaluate the relation between single nucleotide polymorphisms (SNPs) of tropoelastin gene and aortic dissection (AD) via identifying SNPs in the tropoelastin gene, and to detect the level of tropoelastin mRNA, elastin and elastic fibers. The specimens of the AD group ( =96) and the control group ( =95), including their blood and aortic wall tissues, were collected. DNA was extracted from the blood samples in the 2 groups, and the SNPs in the tropoelastin gene were examined by the MassARRAY genotyping technique, and their haplotypes were constructed by PHASE software. The expression of tropoelastin mRNA and elastin in the aortic tunica media was respectively detected by real-time PCR or Western blotting. Elastin Van Gieson (EVG) staining was used to observe the shape of aortic tunica media and clarify the distribution of elastic fibers. The frequency of genotypes and haplotypes of SNP loci in the tropoelastin gene was analyzed and compared between the 2 groups, and the expression of tropoelastin mRNA, elastin and elastic fibers were also compared. Seven SNP loci of the tropoelastin gene were detected in these samples. Among them, 5 SNP loci were polymorphic. The frequency of 3 SNP loci[rs2071307 (G/A), rs34945509 (C/T) and rs17855988 (G/C)] was significantly different between the AD group and the control group (all <0.05). There were significantly different in the haplotypes frequency of rs2071307 (G/A), rs34945509 (C/T) and rs17855988 (G/C) between the 2 groups (all <0.01). Real-time PCR and Western blotting showed that the relative expression of tropoelastin mRNA and elastin in the aortic tunica media in the AD group was significantly lower than that in the control group ( <0.05). EVG staining showed that the aortic tunica media was torn, the morphology and structure of elastic fibers were broken, cracked, and disordered in the AD group, while the aortic tunica media was in complete structure and well arrangement.The elastic fibers were presented closely and orderly in the control group. The polymorphisms of rs2071307 (G/A), rs34945509 (C/T), and rs17855988(G/C) in the tropoelastin gene may eventually affect the synthesis of elastic fibers and they may play an important role in the occurrence of AD.