Racial differences in protein S Tokushima and two protein C variants as genetic risk factors for venous thromboembolism.

Autor: Tsuda H; Department of Nutritional Sciences Nakamura Gakuen University Fukuoka Japan., Noguchi K; Department of Nutritional Sciences Nakamura Gakuen University Fukuoka Japan., Oh D; Division of Hemato-oncology School of Medicine CHA University Seongnam South Korea., Bereczky Z; Division of Clinical Laboratory Science Department of Laboratory Medicine Faculty of Medicine University of Debrecen Debrecen Hungary., Lee LH; Department of Haematology Singapore General Hospital Singapore City Singapore., Kang D; Department of Clinical Chemistry and Laboratory Medicine Kyushu University Hospital Fukuoka Japan., Dusse LMS; Faculty of Pharmacy Federal University of Minas Gerais Minas Gerais Brazil., das G Carvalho M; Faculty of Pharmacy Federal University of Minas Gerais Minas Gerais Brazil., Morishita E; Department of Laboratory Medicine Kanazawa University Medical School Kanazawa Japan.
Jazyk: angličtina
Zdroj: Research and practice in thrombosis and haemostasis [Res Pract Thromb Haemost] 2020 Oct 20; Vol. 4 (8), pp. 1295-1300. Date of Electronic Publication: 2020 Oct 20 (Print Publication: 2020).
DOI: 10.1002/rth2.12440
Abstrakt: Background: Racial differences in genetic risk factors for venous thromboembolism (VTE) are elucidated, with factor V Leiden and prothrombin G20210A being prevalent among the Caucasian population but rare among non-Caucasians.
Objectives: To assess the worldwide distribution of three gene polymorphisms previously identified as genetic risk factors among East Asian subpopulations: protein S (PS) Tokushima (p.Lys196Glu), protein C (PC) p.Arg189Trp, and PC p.Lys193del.
Methods: An international collaborative study group of seven centers in five countries-Japan, South Korea, Singapore, Hungary, and Brazil-was created, and genotype analyses were performed. A total of 2850 unrelated individuals (1061 patients with VTE and 1789 controls) were included.
Results: PS Tokushima was confined to Japanese patients with VTE (allele frequency, 2.35%) and controls (1.12%), with an odds ratio (OR) of 2.15 (95% confidence interval, 1.16-3.99). PC p.Arg189Trp carriers were prevalent among Chinese and Malay patients with VTE in Singapore, with allele frequencies of 10.53% and 22.73%, respectively. Carriers of PC p.Lys193del were identified among Japanese and Korean patients with VTE (0.87% and 2.35%, respectively) and controls (0.36% and 1.07%, respectively), with the OR for VTE not being significant, and Chinese patients with VTE in Singapore (5.26%). In contrast, no carriers of PS Tokushima and two PC gene variants were found among patients with VTE or controls from Hungary, Brazil, or Indians in Singapore.
Conclusion: The three variants were prevalent among East and Southeast Asians, having some differences in geographic distribution, but were absent among Caucasian subpopulations and Brazilians.
(© 2020 The Authors. Research and Practice in Thrombosis and Haemostasis published by Wiley Periodicals LLC on behalf of International Society on Thrombosis and Haemostasis.)
Databáze: MEDLINE
Externí odkaz: