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Gene-Gene Interaction Between Factor-XI and ABO Genes in Cerebral Venous Thrombosis: The BEAST Study.
Ken-Dror, Gie; Martinelli, Ida; Grandone, Elvira; Hiltunen, Sini; Lindgren, Erik; Margaglione, Maurizio; Le Cam Duchez, Veronique; Triquenot, Aude B; Zedde, Marialuisa; Mancuso, Michelangelo; Ruigrok, Ynte M; Worrall, Bradford B; Majersik, Jennifer J; Putaala, Jukka; Haapaniemi, Elena; Zuurbier, Susanna; Brouwer, Matthijs C; Passamonti, Serena M; Abbattista, Maria; Bucciarelli, Paolo; Lemmens, Robin; Pappalardo, Emanuela; Costa, Paolo; Colombi, Marina; De Sousa, Diana Aguiar; Rodrigues, Sofia G; Canhao, Patrícia; Tkach, Aleksander; Santacroce, Rosa; Favuzzi, Giovanni; Arauz, Antonio; Colaizzo, Donatella; Spengos, Konstantinos; Hodge, Amanda; Ditta, Reina; Pezzini, Alessandro; Coutinho, Jonathan M; Thijs, Vincent N; Jood, Katarina; Pare, Guillaume; Tatlisumak, Turgut; Ferro, José M; Sharma, Pankaj.
Afiliação
  • Ken-Dror G; From the Institute of Cardiovascular Research Royal Holloway (G.K.-D., P.S.), University of London (ICR2UL), United Kingdom; Fondazione IRCCS Ca'Granda-Ospedale Maggiore Policlinico (I.M., S.M.P., M.A., P.B., E.P.), A. Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy; Moncucco Hospital
  • Martinelli I; From the Institute of Cardiovascular Research Royal Holloway (G.K.-D., P.S.), University of London (ICR2UL), United Kingdom; Fondazione IRCCS Ca'Granda-Ospedale Maggiore Policlinico (I.M., S.M.P., M.A., P.B., E.P.), A. Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy; Moncucco Hospital
  • Grandone E; From the Institute of Cardiovascular Research Royal Holloway (G.K.-D., P.S.), University of London (ICR2UL), United Kingdom; Fondazione IRCCS Ca'Granda-Ospedale Maggiore Policlinico (I.M., S.M.P., M.A., P.B., E.P.), A. Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy; Moncucco Hospital
  • Hiltunen S; From the Institute of Cardiovascular Research Royal Holloway (G.K.-D., P.S.), University of London (ICR2UL), United Kingdom; Fondazione IRCCS Ca'Granda-Ospedale Maggiore Policlinico (I.M., S.M.P., M.A., P.B., E.P.), A. Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy; Moncucco Hospital
  • Lindgren E; From the Institute of Cardiovascular Research Royal Holloway (G.K.-D., P.S.), University of London (ICR2UL), United Kingdom; Fondazione IRCCS Ca'Granda-Ospedale Maggiore Policlinico (I.M., S.M.P., M.A., P.B., E.P.), A. Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy; Moncucco Hospital
  • Margaglione M; From the Institute of Cardiovascular Research Royal Holloway (G.K.-D., P.S.), University of London (ICR2UL), United Kingdom; Fondazione IRCCS Ca'Granda-Ospedale Maggiore Policlinico (I.M., S.M.P., M.A., P.B., E.P.), A. Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy; Moncucco Hospital
  • Le Cam Duchez V; From the Institute of Cardiovascular Research Royal Holloway (G.K.-D., P.S.), University of London (ICR2UL), United Kingdom; Fondazione IRCCS Ca'Granda-Ospedale Maggiore Policlinico (I.M., S.M.P., M.A., P.B., E.P.), A. Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy; Moncucco Hospital
  • Triquenot AB; From the Institute of Cardiovascular Research Royal Holloway (G.K.-D., P.S.), University of London (ICR2UL), United Kingdom; Fondazione IRCCS Ca'Granda-Ospedale Maggiore Policlinico (I.M., S.M.P., M.A., P.B., E.P.), A. Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy; Moncucco Hospital
  • Zedde M; From the Institute of Cardiovascular Research Royal Holloway (G.K.-D., P.S.), University of London (ICR2UL), United Kingdom; Fondazione IRCCS Ca'Granda-Ospedale Maggiore Policlinico (I.M., S.M.P., M.A., P.B., E.P.), A. Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy; Moncucco Hospital
  • Mancuso M; From the Institute of Cardiovascular Research Royal Holloway (G.K.-D., P.S.), University of London (ICR2UL), United Kingdom; Fondazione IRCCS Ca'Granda-Ospedale Maggiore Policlinico (I.M., S.M.P., M.A., P.B., E.P.), A. Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy; Moncucco Hospital
  • Ruigrok YM; From the Institute of Cardiovascular Research Royal Holloway (G.K.-D., P.S.), University of London (ICR2UL), United Kingdom; Fondazione IRCCS Ca'Granda-Ospedale Maggiore Policlinico (I.M., S.M.P., M.A., P.B., E.P.), A. Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy; Moncucco Hospital
  • Worrall BB; From the Institute of Cardiovascular Research Royal Holloway (G.K.-D., P.S.), University of London (ICR2UL), United Kingdom; Fondazione IRCCS Ca'Granda-Ospedale Maggiore Policlinico (I.M., S.M.P., M.A., P.B., E.P.), A. Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy; Moncucco Hospital
  • Majersik JJ; From the Institute of Cardiovascular Research Royal Holloway (G.K.-D., P.S.), University of London (ICR2UL), United Kingdom; Fondazione IRCCS Ca'Granda-Ospedale Maggiore Policlinico (I.M., S.M.P., M.A., P.B., E.P.), A. Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy; Moncucco Hospital
  • Putaala J; From the Institute of Cardiovascular Research Royal Holloway (G.K.-D., P.S.), University of London (ICR2UL), United Kingdom; Fondazione IRCCS Ca'Granda-Ospedale Maggiore Policlinico (I.M., S.M.P., M.A., P.B., E.P.), A. Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy; Moncucco Hospital
  • Haapaniemi E; From the Institute of Cardiovascular Research Royal Holloway (G.K.-D., P.S.), University of London (ICR2UL), United Kingdom; Fondazione IRCCS Ca'Granda-Ospedale Maggiore Policlinico (I.M., S.M.P., M.A., P.B., E.P.), A. Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy; Moncucco Hospital
  • Zuurbier S; From the Institute of Cardiovascular Research Royal Holloway (G.K.-D., P.S.), University of London (ICR2UL), United Kingdom; Fondazione IRCCS Ca'Granda-Ospedale Maggiore Policlinico (I.M., S.M.P., M.A., P.B., E.P.), A. Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy; Moncucco Hospital
  • Brouwer MC; From the Institute of Cardiovascular Research Royal Holloway (G.K.-D., P.S.), University of London (ICR2UL), United Kingdom; Fondazione IRCCS Ca'Granda-Ospedale Maggiore Policlinico (I.M., S.M.P., M.A., P.B., E.P.), A. Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy; Moncucco Hospital
  • Passamonti SM; From the Institute of Cardiovascular Research Royal Holloway (G.K.-D., P.S.), University of London (ICR2UL), United Kingdom; Fondazione IRCCS Ca'Granda-Ospedale Maggiore Policlinico (I.M., S.M.P., M.A., P.B., E.P.), A. Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy; Moncucco Hospital
  • Abbattista M; From the Institute of Cardiovascular Research Royal Holloway (G.K.-D., P.S.), University of London (ICR2UL), United Kingdom; Fondazione IRCCS Ca'Granda-Ospedale Maggiore Policlinico (I.M., S.M.P., M.A., P.B., E.P.), A. Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy; Moncucco Hospital
  • Bucciarelli P; From the Institute of Cardiovascular Research Royal Holloway (G.K.-D., P.S.), University of London (ICR2UL), United Kingdom; Fondazione IRCCS Ca'Granda-Ospedale Maggiore Policlinico (I.M., S.M.P., M.A., P.B., E.P.), A. Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy; Moncucco Hospital
  • Lemmens R; From the Institute of Cardiovascular Research Royal Holloway (G.K.-D., P.S.), University of London (ICR2UL), United Kingdom; Fondazione IRCCS Ca'Granda-Ospedale Maggiore Policlinico (I.M., S.M.P., M.A., P.B., E.P.), A. Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy; Moncucco Hospital
  • Pappalardo E; From the Institute of Cardiovascular Research Royal Holloway (G.K.-D., P.S.), University of London (ICR2UL), United Kingdom; Fondazione IRCCS Ca'Granda-Ospedale Maggiore Policlinico (I.M., S.M.P., M.A., P.B., E.P.), A. Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy; Moncucco Hospital
  • Costa P; From the Institute of Cardiovascular Research Royal Holloway (G.K.-D., P.S.), University of London (ICR2UL), United Kingdom; Fondazione IRCCS Ca'Granda-Ospedale Maggiore Policlinico (I.M., S.M.P., M.A., P.B., E.P.), A. Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy; Moncucco Hospital
  • Colombi M; From the Institute of Cardiovascular Research Royal Holloway (G.K.-D., P.S.), University of London (ICR2UL), United Kingdom; Fondazione IRCCS Ca'Granda-Ospedale Maggiore Policlinico (I.M., S.M.P., M.A., P.B., E.P.), A. Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy; Moncucco Hospital
  • De Sousa DA; From the Institute of Cardiovascular Research Royal Holloway (G.K.-D., P.S.), University of London (ICR2UL), United Kingdom; Fondazione IRCCS Ca'Granda-Ospedale Maggiore Policlinico (I.M., S.M.P., M.A., P.B., E.P.), A. Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy; Moncucco Hospital
  • Rodrigues SG; From the Institute of Cardiovascular Research Royal Holloway (G.K.-D., P.S.), University of London (ICR2UL), United Kingdom; Fondazione IRCCS Ca'Granda-Ospedale Maggiore Policlinico (I.M., S.M.P., M.A., P.B., E.P.), A. Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy; Moncucco Hospital
  • Canhao P; From the Institute of Cardiovascular Research Royal Holloway (G.K.-D., P.S.), University of London (ICR2UL), United Kingdom; Fondazione IRCCS Ca'Granda-Ospedale Maggiore Policlinico (I.M., S.M.P., M.A., P.B., E.P.), A. Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy; Moncucco Hospital
  • Tkach A; From the Institute of Cardiovascular Research Royal Holloway (G.K.-D., P.S.), University of London (ICR2UL), United Kingdom; Fondazione IRCCS Ca'Granda-Ospedale Maggiore Policlinico (I.M., S.M.P., M.A., P.B., E.P.), A. Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy; Moncucco Hospital
  • Santacroce R; From the Institute of Cardiovascular Research Royal Holloway (G.K.-D., P.S.), University of London (ICR2UL), United Kingdom; Fondazione IRCCS Ca'Granda-Ospedale Maggiore Policlinico (I.M., S.M.P., M.A., P.B., E.P.), A. Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy; Moncucco Hospital
  • Favuzzi G; From the Institute of Cardiovascular Research Royal Holloway (G.K.-D., P.S.), University of London (ICR2UL), United Kingdom; Fondazione IRCCS Ca'Granda-Ospedale Maggiore Policlinico (I.M., S.M.P., M.A., P.B., E.P.), A. Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy; Moncucco Hospital
  • Arauz A; From the Institute of Cardiovascular Research Royal Holloway (G.K.-D., P.S.), University of London (ICR2UL), United Kingdom; Fondazione IRCCS Ca'Granda-Ospedale Maggiore Policlinico (I.M., S.M.P., M.A., P.B., E.P.), A. Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy; Moncucco Hospital
  • Colaizzo D; From the Institute of Cardiovascular Research Royal Holloway (G.K.-D., P.S.), University of London (ICR2UL), United Kingdom; Fondazione IRCCS Ca'Granda-Ospedale Maggiore Policlinico (I.M., S.M.P., M.A., P.B., E.P.), A. Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy; Moncucco Hospital
  • Spengos K; From the Institute of Cardiovascular Research Royal Holloway (G.K.-D., P.S.), University of London (ICR2UL), United Kingdom; Fondazione IRCCS Ca'Granda-Ospedale Maggiore Policlinico (I.M., S.M.P., M.A., P.B., E.P.), A. Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy; Moncucco Hospital
  • Hodge A; From the Institute of Cardiovascular Research Royal Holloway (G.K.-D., P.S.), University of London (ICR2UL), United Kingdom; Fondazione IRCCS Ca'Granda-Ospedale Maggiore Policlinico (I.M., S.M.P., M.A., P.B., E.P.), A. Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy; Moncucco Hospital
  • Ditta R; From the Institute of Cardiovascular Research Royal Holloway (G.K.-D., P.S.), University of London (ICR2UL), United Kingdom; Fondazione IRCCS Ca'Granda-Ospedale Maggiore Policlinico (I.M., S.M.P., M.A., P.B., E.P.), A. Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy; Moncucco Hospital
  • Pezzini A; From the Institute of Cardiovascular Research Royal Holloway (G.K.-D., P.S.), University of London (ICR2UL), United Kingdom; Fondazione IRCCS Ca'Granda-Ospedale Maggiore Policlinico (I.M., S.M.P., M.A., P.B., E.P.), A. Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy; Moncucco Hospital
  • Coutinho JM; From the Institute of Cardiovascular Research Royal Holloway (G.K.-D., P.S.), University of London (ICR2UL), United Kingdom; Fondazione IRCCS Ca'Granda-Ospedale Maggiore Policlinico (I.M., S.M.P., M.A., P.B., E.P.), A. Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy; Moncucco Hospital
  • Thijs VN; From the Institute of Cardiovascular Research Royal Holloway (G.K.-D., P.S.), University of London (ICR2UL), United Kingdom; Fondazione IRCCS Ca'Granda-Ospedale Maggiore Policlinico (I.M., S.M.P., M.A., P.B., E.P.), A. Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy; Moncucco Hospital
  • Jood K; From the Institute of Cardiovascular Research Royal Holloway (G.K.-D., P.S.), University of London (ICR2UL), United Kingdom; Fondazione IRCCS Ca'Granda-Ospedale Maggiore Policlinico (I.M., S.M.P., M.A., P.B., E.P.), A. Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy; Moncucco Hospital
  • Pare G; From the Institute of Cardiovascular Research Royal Holloway (G.K.-D., P.S.), University of London (ICR2UL), United Kingdom; Fondazione IRCCS Ca'Granda-Ospedale Maggiore Policlinico (I.M., S.M.P., M.A., P.B., E.P.), A. Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy; Moncucco Hospital
  • Tatlisumak T; From the Institute of Cardiovascular Research Royal Holloway (G.K.-D., P.S.), University of London (ICR2UL), United Kingdom; Fondazione IRCCS Ca'Granda-Ospedale Maggiore Policlinico (I.M., S.M.P., M.A., P.B., E.P.), A. Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy; Moncucco Hospital
  • Ferro JM; From the Institute of Cardiovascular Research Royal Holloway (G.K.-D., P.S.), University of London (ICR2UL), United Kingdom; Fondazione IRCCS Ca'Granda-Ospedale Maggiore Policlinico (I.M., S.M.P., M.A., P.B., E.P.), A. Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy; Moncucco Hospital
  • Sharma P; From the Institute of Cardiovascular Research Royal Holloway (G.K.-D., P.S.), University of London (ICR2UL), United Kingdom; Fondazione IRCCS Ca'Granda-Ospedale Maggiore Policlinico (I.M., S.M.P., M.A., P.B., E.P.), A. Bianchi Bonomi Hemophilia and Thrombosis Center, Milan, Italy; Moncucco Hospital
Neurology ; 102(11): e209445, 2024 Jun 11.
Article em En | MEDLINE | ID: mdl-38759137
ABSTRACT
BACKGROUND AND

OBJECTIVES:

Gene-gene interactions likely contribute to the etiology of multifactorial diseases such as cerebral venous thrombosis (CVT) and could be one of the main sources of known missing heritability. We explored Factor XI (F11) and ABO gene interactions among patients with CVT.

METHODS:

Patients with CVT of European ancestry from the large Bio-Repository to Establish the Aetiology of Sinovenous Thrombosis (BEAST) international collaboration were recruited. Codominant modelling was used to determine interactions between genome-wide identified F11 and ABO genes with CVT status.

RESULTS:

We studied 882 patients with CVT and 1,205 ethnically matched control participants (age 42 ± 15 vs 43 ± 12 years, p = 0.08 sex 71% male vs 68% female, p = 0.09, respectively). Individuals heterozygous (AT) for the risk allele (T) at both loci (rs56810541/F11 and rs8176645/ABO) had a 3.9 (95% CI 2.74-5.71, p = 2.75e-13) increase in risk of CVT. Individuals homozygous (TT) for the risk allele at both loci had a 13.9 (95% CI 7.64-26.17, p = 2.0e-15) increase in risk of CVT. The presence of a non-O blood group (A, B, AB) combined with TT/rs56810541/F11 increased CVT risk by OR = 6.8 (95% CI 4.54-10.33, p = 2.00e15), compared with blood group-O combined with AA.

DISCUSSION:

Interactions between factor XI and ABO genes increase risk of CVT by 4- to 14-fold.
Assuntos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Sistema ABO de Grupos Sanguíneos / Fator XI / Trombose Venosa Limite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Neurology Ano de publicação: 2024 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Sistema ABO de Grupos Sanguíneos / Fator XI / Trombose Venosa Limite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Neurology Ano de publicação: 2024 Tipo de documento: Article