Genetic Polymorphisms Associated with Prothrombin Time and Activated Partial Thromboplastin Time in Chinese Healthy Population.
Genetic Polymorphisms Associated with Prothrombin Time and Activated Partial Thromboplastin Time in Chinese Healthy Population.
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(1) Background: The purpose of this study was to evaluate the effect of gene polymorphisms on prothrombin time (PT) and activated partial thromboplastin time (APTT) in a healthy Chinese population. (2) Methods: A total of 403 healthy volunteers from a series of novel oral anticoagulants (NOACs) bioequivalence trials in China were included. Coagulation tests for PT and APTT were performed in the central lab at Peking University First Hospital. Whole-exome sequencing (WES) and genome-wide association analysis were performed. (3) Results: In the correlation analysis of PT, 105 SNPs from 84 genes reached the genome-wide significance threshold (p < 1 × 10−5). Zinc Finger Protein 594 (ZNF594) rs184838268 (p = 4.50 × 10−19) was most significantly related to PT, and Actinin Alpha 1 (ACTN1) was found to interact most with other candidate genes. Significant associations with previously reported candidate genes Aurora Kinase B (AURKB), Complement C5(C5), Clock Circadian Regulator (CLOCK), and Histone Deacetylase 9(HDAC9) were detected in our dataset (p < 1 × 10−5). PiggyBac Transposable Element Derived 2(PGBD2) rs75935520 (p = 4.49 × 10−6), Bromodomain Adjacent To Zinc Finger Domain 2A(BAZ2A) rs199970765 (p = 5.69 × 10−6) and Protogenin (PRTG) rs80064850 (p = 8.69 × 10−6) were significantly correlated with APTT (p < 1 × 10−5). The heritability values of PT and APTT were 0.83 and 0.64, respectively; (4) Conclusion: The PT and APTT of healthy populations are affected by genetic polymorphisms. ZNF594 and ACTN1 variants could be novel genetic markers of PT, while PRTG polymorphisms might be associated with APTT levels. The findings could be attributed to ethnic differences, and need further investigation.
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影响因子：
3.3
作者：
Eicher JD;Wakabayashi Y;Vitseva O;Esa N;Yang Y;Zhu J;Freedman JE;McManus DD;Johnson AD
通讯作者：
Johnson AD
影响因子：
5.5
作者：
Aslan, Joseph E.;Baker, Sandra M.;McCarty, Owen J. T.
通讯作者：
McCarty, Owen J. T.
影响因子：
9.2
作者：
Chang CC;Chow CC;Tellier LC;Vattikuti S;Purcell SM;Lee JJ
通讯作者：
Lee JJ
网状地下膜厚度与哮喘患者中促进生长和纤维化的气道转录组概况研究有关。
影响因子：
5.6
作者：
Bazan-Socha S;Buregwa-Czuma S;Jakiela B;Zareba L;Zawlik I;Myszka A;Soja J;Okon K;Zarychta J;Kozlik P;Dziedzina S;Padjas A;Wojcik K;Kepski M;Bazan JG
通讯作者：
Bazan JG
DOI：
10.1111/jth.12051
发表时间：
2013-01
期刊：
Journal of thrombosis and haemostasis : JTH
影响因子：
--
作者：
Aslan JE;McCarty OJ
通讯作者：
McCarty OJ