Genetic study can provide important insight into the etiology of aortic dissection. To explore the pathogenesis and natural history of aortic dissection, a number of genes have been identified through microarray chip screening and undergone testing of polymorphisms to find mutations strongly associated with the disease. The results suggested aortic dissection to be a multi-gene disorder. Multiple genes probably work together to promote its development. Several diseases with a genetic predisposition are closely connected with aortic dissection, which also implied a role of genetic changes and malfunction in this disease.
Aneurysm, Dissecting ; genetics ; Aortic Aneurysm ; genetics ; Humans ; Mutation ; Polymorphism, Genetic

Aneurysm, Dissecting ; genetics ; Aortic Aneurysm ; genetics ; Diseases in Twins ; Humans ; Male

Objective: To investigate the expression pattern of tropomyosin 2(TPM2) in aorta of patients with aortic dissection and explore its clinical implication. Methods: Thirteen cases with acute type A aortic dissection(TAAD) diagnosed by transabdominal aortic angiography from 2015 in Tongji Hospital were included. During the operation, the aortic wall tissues of these patients were collected. Ten patients with heart transplantation were selected as control group, and normal aortic wall tissues were taken. The hematoxylin-eosin (HE) and Verhoeff's Van Gieson (EVG) staining were performed to observe the morphological changes of aorta. The mRNA expression level of TPM2 was measured by real-time fluorescent quantitative-PCR, and the protein levels of TPM2 were detected by Western blot and immunohistochemical staining. Image The J software was used to collect the optical density values of each point on the image, obtain the integrated optical density(IOD) value, and calculate the average density(%, IOD/area of the target distribution area). Results: HE and EVG staining revealed medial degeneration and broken elastic fiber in aorta of TAAD patients. The mRNA expression levels of TPM2 were significantly upregulated in aorta of TAAD patients as compared to the control group (P<0.05), so as the TPM2 protein expression levels ((9.73±1.20)% vs. (0.11±0.04)%, P<0.05). And TPM2 was mainly expressed in cytoplasm. Conclusion: The increased expression of TPM2 in TAAD patients hints that TPM2 might be involved in the pathogenesis of aortic dissection.
Aneurysm, Dissecting/genetics* ; Aorta ; Aortic Aneurysm, Thoracic/genetics* ; Gene Expression ; Humans ; RNA, Messenger ; Tropomyosin/metabolism*

Aneurysm, Dissecting ; genetics ; Aortic Aneurysm ; genetics ; Diseases in Twins ; Humans ; Male ; Middle Aged

OBJECTIVES: 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. METHODS: The specimens of the AD group ( RESULTS: 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 CONCLUSIONS 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.
Aneurysm, Dissecting/genetics* ; Elastic Tissue ; Elastin/genetics* ; Humans ; Polymorphism, Single Nucleotide ; Tropoelastin/genetics*

Thoracic aortic dissection (TAD) without familial clustering or syndromic features is known as sporadic TAD (STAD). So far, the genetic basis of STAD remains unknown. Whole exome sequencing was performed in 223 STAD patients and 414 healthy controls from the Chinese Han population (N = 637). After population structure and genetic relationship and ancestry analyses, we used the optimal sequence kernel association test to identify the candidate genes or variants of STAD. We found that COL3A1 was significantly relevant to STAD (P = 7.35 × 10
Aneurysm, Dissecting/genetics* ; Case-Control Studies ; Cluster Analysis ; Cohort Studies ; Collagen Type III/genetics* ; Computational Biology ; Genetic Predisposition to Disease ; Humans

OBJECTIVESTo investigate if there is altered microRNAs (miRNAs) expression in aortic dissection (Debakey Type A) and normal aorta tissue.

METHODSTotal RNA was exacted from aorta of 5 patients with aortic dissection (AD) and four patients without aortic diseases (NA). miRNAs of the aortic tissues were analyzed by miRNA microarray. Reverse transcription polymerase chain reaction (RT-PCR) was performed to verify the expression of miRNAs in larger sample size (AD = 11 and NA = 9).

RESULTShsa-miR-146b-5p_st, hsa-miR-19a_st and hsa-miR-505_st were significantly upregulated while hsa-miR-1268_st and hsa-miR-939_st were significantly downregulated [fold change > 2, q-value (%) ≤ 5] in AD group compared with NA group. RT-PCR verified hsa-miR-146b-5p_st miRNAs change in AD group.

CONCLUSIONSAltered miRNAs expression might play an essential role in the pathogenesis of aortic dissection formation and hsa-miR-146b-5p_st might serve as a new diagnosis biomarker of aortic dissection.

Aneurysm, Dissecting ; genetics ; Gene Expression Profiling ; Humans ; MicroRNAs ; genetics ; metabolism ; Oligonucleotide Array Sequence Analysis ; Reverse Transcriptase Polymerase Chain Reaction