Amarenco, P.

Arveiler, D.

Bertrand, M.G.

Brand, E.

Brand-Herrmann, S.M.

Cambien, F.

Dordelmann, C.

Elbaz, A.

Evans, Alun

Fischer, J.W.

Hagedorn, C.

Labreuche, J.

Morrison, C.

Nicaud, V.

Paul, M.

Schmidt-Petersen, K.

Stoll, M.

Telgmann, R.

Klaus Schmidt-Petersen

Eva Brand

Ralph Telgmann

Viviane Nicaud

Claudia Hagedorn

Julien Labreuche

Corinna Dördelmann

Alexis Elbaz

Marion Gautier-Bertrand

Jens W. Fischer

Alun Evans

Caroline Morrison

Dominique Arveiler

Monika Stoll

Pierre Amarenco

François Cambien

Martin Paul

Stefan-Martin Brand-Herrmann

Crossref

Osteopontin gene variation and cardio/cerebrovascular disease phenotypes

We aimed at associating common osteopontin (OPN) gene variants with cardiovascular disease phenotypes.We scanned the OPN gene in 190 chromosomes from myocardial infarction (MI) patients and identified five variants in the promoter, three synonymous and one non-synonymous variant. All variants were investigated in case–control studies for MI (ECTIM: 990 cases, 900 controls) and brain infarction (BI) (GÉNIC: 466 cases, 444 controls). Promoter variants were functionally analyzed by bandshift assays, the coding D147D [T/C] by Western blot. Allele D147D C was independently and significantly associated with lower apoB levels (P = 0.044 [ECTIM] P = 0.03 [GENIC]), its allele frequency was significantly lower in patients with BI compared to controls (OR [95% CI] 0.39 [0.20–0.74], P = 0.004), and C allele carriers had a significantly lower frequency of presence of carotid plaques (P = 0.02). Bandshifts with HepG2 and Ea.hy926 nuclear proteins did not reveal any functionality of promoter variants, whereas the OPN-441C-containing construct resulted in reduced OPN protein expression in Western blots, complying with its potential protective effect on the phenotypes studied.We here provide evidence that a portion of the OPN locus is likely to associate with cardiovascular disease-related phenotypes. However, further experiments are warranted to clarify the functional role of OPN variants

Queen's University Belfast Research Portal

https://pure.qub.ac.uk/portal/files/562237/Osteopontin%20gene%20variation%20and%20cardio-cerebrovascular%20disease%20phenotypes%20-%20Atherosclerosis%202009%20-%20Evans%20AE.pdf

Osteopontin gene variation and cardio/cerebrovascular disease phenotypes

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