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http://hdl.handle.net/1843/52616
Type: | Artigo de Periódico |
Title: | Racial differences in protein S Tokushima and two protein C variants as genetic risk factors for venous thromboembolism |
Authors: | Hiroko Tsuda Kenta Noguchi Doyeun Oh Zsuzsanna Bereczky Lai Heng Lee Dongchon Kang Luci Maria SantAna Dusse Maria das Graças Carvalho Eriko Morishita |
Abstract: | 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. |
Abstract: | Introdução: As diferenças raciais nos fatores de risco genéticos para tromboembolismo venoso (TEV) são elucidadas, com o fator V de Leiden e a protrombina G20210A sendo prevalentes entre a população caucasiana, mas raros entre os não caucasianos. Objetivos: Avaliar a distribuição mundial de três polimorfismos genéticos previamente identificados como fatores de risco genético entre as subpopulações do Leste Asiático: proteína S (PS) Tokushima (p.Lys196Glu), proteína C (PC) p.Arg189Trp e PC p.Lys193del. Métodos: Um grupo de estudo colaborativo internacional de sete centros em cinco países - Japão, Coréia do Sul, Cingapura, Hungria e Brasil - foi criado e análises de genótipos foram realizadas. Um total de 2.850 indivíduos não aparentados (1.061 pacientes com TEV e 1.789 controles) foram incluídos. Resultados: PS Tokushima foi confinado a pacientes japoneses com TEV (frequência alélica, 2,35%) e controles (1,12%), com uma razão de chances (OR) de 2,15 (intervalo de confiança de 95%, 1,16-3,99). Os portadores de PC p.Arg189Trp foram prevalentes entre os pacientes chineses e malaios com TEV em Cingapura, com frequências alélicas de 10,53% e 22,73%, respectivamente. Portadores de PC p.Lys193del foram identificados entre pacientes japoneses e coreanos com TEV (0,87% e 2,35%, respectivamente) e controles (0,36% e 1,07%, respectivamente), com OR para TEV não sendo significativo, e pacientes chineses com TEV em Cingapura (5,26%). Em contraste, nenhum portador de PS Tokushima e duas variantes do gene PC foram encontrados entre pacientes com TEV ou controles da Hungria, Brasil ou indianos em Cingapura. Conclusão: As três variantes foram prevalentes entre os asiáticos do leste e sudeste, com algumas diferenças na distribuição geográfica, mas estavam ausentes entre as subpopulações caucasianas e brasileiras. |
Subject: | Tromboembolia venosa Polimorfismo genético Fatores raciais Proteína C Proteína S |
language: | eng |
metadata.dc.publisher.country: | Brasil |
Publisher: | Universidade Federal de Minas Gerais |
Publisher Initials: | UFMG |
metadata.dc.publisher.department: | FAR - DEPARTAMENTO DE ANÁLISES CLÍNICAS E TOXICOLÓGICAS |
Rights: | Acesso Aberto |
metadata.dc.identifier.doi: | https://doi.org/10.1002/rth2.12440 |
URI: | http://hdl.handle.net/1843/52616 |
Issue Date: | Nov-2020 |
metadata.dc.url.externa: | https://www.sciencedirect.com/science/article/pii/S2475037922021161 |
metadata.dc.relation.ispartof: | Research and Practice in Thrombosis and Haemostasis |
Appears in Collections: | Artigo de Periódico |
Files in This Item:
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Racial differences in protein S Tokushima and two protein C variants as genetic risk factors for venous thromboembolism.pdf | 280.49 kB | Adobe PDF | View/Open |
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