NDLI: Protein C polymorphism and susceptibility to PTE in China.

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Protein C polymorphism and susceptibility to PTE in China.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Zhang, Yi-Jie Miao, Ya-Fang Cheng, Ke-Bin Yue, Jun Tan, Xiao-Yue Liu, Jin-Ming
Description	Country affiliation: China Author Affiliation: Zhang YJ ( Department of Pulmonary Function Test, Tongji University School of Medicine, Shanghai Pulmonary Hospital Affiliated to Tongji University, Shanghai 200433, China.)
Abstract	Pulmonary thromboembolism (PTE) is a common clinical problem that is associated with substantial morbidity and mortality. We investigated the role of protein C polymorphism in patients with PTE in order to find out the correlation between its polymorphism and the susceptibility of the Chinese population to develop PTE. We used a case-control study design. Sixty-three consecutive patients with PTE were enrolled as the investigated group and 86 healthy people as the control group. Two novel polymorphisms, C/T at the position of 2405 and A/G at the position of 2418in the protein C gene promoter region were detected through PCR-restriction fragment length polymorphism analysis. The results suggested that the genotype frequencies of the two single-nucleotide polymorphisms (SNPs) when combined together were not significantly different between the case and control group (P > 0.05). However, the allele frequency of the C2405T SNP was significantly different between the case and control group. The frequency of T allele in the PTE group was higher when compared to the control, whereas the frequency of C allele was lower (P < 0.05). These results suggested that there were six different kinds of genotype distribution (TA-TA, TA-CA, TA-CG, CG-CG, CA-CG, CA-CA) and three different kinds of haplotype (TA, CG, CA). Our result showed that the frequency of the TA haplotype was significantly higher in the patients suffering from PTE (P < 0.05). These results suggest that the two polymorphisms present in the control region of the protein C gene are associated with an increased susceptibility to PTE in the Chinese population. The 2405T allele may be a possible risk factor for the development of PTE, whereas the C allele may probably be a protective factor of PTE Moreover, the TA haplotype may also be associated with an increased risk for developing PTE.
File Format	HTM / HTML
ISSN	09575235
Issue Number	8
Volume Number	23
e-ISSN	14735733
Journal	Blood Coagulation & Fibrinolysis
Language	English
Publisher	Lippincott Williams & Wilkins
Publisher Date	2012-12-01
Publisher Place	Great Britain (UK)
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Hematology Asian Continental Ancestry Group Genetics Genetic Predisposition To Disease Polymorphism, Single Nucleotide Protein C Pulmonary Embolism Adolescent Adult Aged Alleles Case-control Studies Female Gene Frequency Haplotypes Humans Male Middle Aged Polymorphism, Restriction Fragment Length Risk Factors Journal Article
Content Type	Text
Resource Type	Article
Subject	Hematology

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