Identification of COL3A1 variants associated with sporadic thoracic aortic dissection: a case-control study.
- Author:
Yanghui CHEN
1
;
Yang SUN
1
;
Zongzhe LI
1
;
Chenze LI
1
;
Lei XIAO
1
;
Jiaqi DAI
1
;
Shiyang LI
1
;
Hao LIU
1
;
Dong HU
1
;
Dongyang WU
1
;
Senlin HU
1
;
Bo YU
1
;
Peng CHEN
1
;
Ping XU
2
;
Wei KONG
3
;
Dao Wen WANG
4
Author Information
- Publication Type:Journal Article
- Keywords: case-control study; exome sequencing; extracellular matrix; gene COL3A1; sporadic thoracic aortic dissection
- MeSH: Aneurysm, Dissecting/genetics*; Case-Control Studies; Cluster Analysis; Cohort Studies; Collagen Type III/genetics*; Computational Biology; Genetic Predisposition to Disease; Humans
- From: Frontiers of Medicine 2021;15(3):438-447
- CountryChina
- Language:English
- Abstract: 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
