Genome wide association study on genetic risk factors of deep vein thrombosis after trauma
10.13602/j.cnki.jcls.2024.02.10
- VernacularTitle:创伤后深静脉血栓形成遗传危险因素的全基因组关联分析
- Author:
Wenjie ZHANG
1
;
Yu SU
;
Shan LU
;
Yuying CHEN
;
Xiangyu CAO
;
Lei LIU
;
Li YANG
;
Jun WU
Author Information
1. 首都医科大学附属北京积水潭医院医学检验中心,北京 100035
- Keywords:
deep vein thrombosis;
trauma;
lower extremity fractures;
genome wide association study;
genetic risk factor
- From:
Chinese Journal of Clinical Laboratory Science
2024;42(2):126-131
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the genetic risk factors of deep vein thrombosis(DVT)after trauma.Methods In a nested case-control study,50 patients with DVT after traumatic lower extremity fractures and 50 patients without DVT were recruited.The two groups were matched with gender,age and fracture sites.Preoperative venography was performed to diagnose DVT in trauma patients.Genome wide association study(GWAS)was used to investigate the genetic risk factors for preoperative DVT after traumatic lower ex-tremity fractures.Genomic DNA in leukocytes from blood sample was extracted and used for GWAS.Results GWAS was conducted based on 2 662 single nucleotide variants(SNV)which were dispersed in 144 interested genes.Ten genes were found to have signifi-cant association with trauma-related DVT,including cofactors of hemostasis mechanism,i.e.,THBD,F5,SERPIND1 and ITGA2,the factors related to vitamin K-dependent(VKD)carboxylation,i.e.,GGCX and CALU,and the members of cytochrome P450 family,i.e.,CYP1A1,CYP3A4,CYP2C19 and CYP2B6.Conclusion DVT after trauma might be regulated by the cofactors of hemostasis mechanism,the factors related to VKD carboxylation and the members of cytochrome P450 family.The results of our study may provide reference and inspiration for genetic susceptibility of preoperative DVT after trauma.
