Changtai Zhu1, Ting Jiang1, Yafang Miao1, Sugang Gong1, Kebin Cheng1, Jian Guo1, Xiaoyue Tan1, Jun Yue1, Jinming Liu1. 1. 1 Department of Transfusion Medicine, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai 200233, China ; 2 Department of Respiratory Medicine, Shanghai Pulmonary Hospital, Tongji University School of Medicine, Shanghai 200433, China ; 3 Department of Orthopedics, the Third Affiliated Hospital, Anhui Medical University, Hefei 230031, China ; 4 Shanghai Key Laboratory of Tuberculosis, Shanghai Pulmonary Hospital, Medical School, Tongji University, Shanghai 200433, China.
Abstract
BACKGROUND: Pulmonary thromboembolism (PTE) is a common and potentially lethal disease. It is significant to investigate the gene mutations of protein C for clarifying the etiology of PTE. In this present study, we investigated the promoter region polymorphism sites including -1654C/T, -1641A/G and -1476A/T of the protein C gene in a Chinese population. METHODS: A total of 110 cases of PTE and one hundred and ninety healthy controls in a Chinese population were genotyped for three polymorphisms (-1654C/T, -1641A/G and -1476A/T) of the protein C promoter. The statistical analysis was performed by Stata 11.0. RESULTS: The single nucleotide polymorphisms (SNPs) (-1654C/T, -1641A/G and -1476A/T) in protein C gene were associated with the susceptibility to PTE in Chinese population. According to the binary logistic regression analysis, the independently significant risk factors for PTE were the complications of deep vein thrombosis (DVT) or cancer, history of operation or injury, and the homozygous carriers of the TT genotype (protein C -1654C/T). CONCLUSIONS: The SNPs (-1654C/T, -1641A/G and -1476A/T) of protein C promoter gene are associated with the susceptibility to PTE in a Chinese population. Especially, the homozygous carriers of genotype TT (-1654C/T) increase the risk of PTE in a Chinese population. Confirmation of our preliminary observations in a larger scale study is needed.
BACKGROUND:Pulmonary thromboembolism (PTE) is a common and potentially lethal disease. It is significant to investigate the gene mutations of protein C for clarifying the etiology of PTE. In this present study, we investigated the promoter region polymorphism sites including -1654C/T, -1641A/G and -1476A/T of the protein C gene in a Chinese population. METHODS: A total of 110 cases of PTE and one hundred and ninety healthy controls in a Chinese population were genotyped for three polymorphisms (-1654C/T, -1641A/G and -1476A/T) of the protein C promoter. The statistical analysis was performed by Stata 11.0. RESULTS: The single nucleotide polymorphisms (SNPs) (-1654C/T, -1641A/G and -1476A/T) in protein C gene were associated with the susceptibility to PTE in Chinese population. According to the binary logistic regression analysis, the independently significant risk factors for PTE were the complications of deep vein thrombosis (DVT) or cancer, history of operation or injury, and the homozygous carriers of the TT genotype (protein C -1654C/T). CONCLUSIONS: The SNPs (-1654C/T, -1641A/G and -1476A/T) of protein C promoter gene are associated with the susceptibility to PTE in a Chinese population. Especially, the homozygous carriers of genotype TT (-1654C/T) increase the risk of PTE in a Chinese population. Confirmation of our preliminary observations in a larger scale study is needed.
Entities:
Keywords:
Single nucleotide polymorphisms (SNPs); a Chinese population; protein C; pulmonary thromboembolism (PTE)