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A Common Missense Variant in the ATP Receptor P2X7 Is Associated with Reduced Risk of Cardiovascular Events

Artikel i vetenskaplig tidskrift
Författare O. Gidlof
J. G. Smith
O. Melander
H. Lovkvist
B. Hedblad
G. Engstrom
P. Nilsson
J. Carlson
G. Berglund
Sandra Olsson
Katarina Jood
Christina Jern
B. Norrving
A. Lindgren
D. Erlinge
Publicerad i Plos One
Volym 7
Nummer/häfte 5
ISSN 1932-6203
Publiceringsår 2012
Publicerad vid Institutionen för neurovetenskap och fysiologi, sektionen för klinisk neurovetenskap och rehabilitering
Språk en
Länkar dx.doi.org/10.1371/journal.pone.003...
Ämnesord gain-of-function, human p2x(7) receptor, genetic association, ischemic-stroke, blood-pressure, polymorphism, disease, lymphocytes, atherosclerosis, susceptibility
Ämneskategorier Klinisk medicin

Sammanfattning

Background and Purpose: Extracellular adenosine triphosphate (ATP) regulates inflammatory cells by activation of the P2X(7) receptor. We hypothesized that polymorphisms in P2RX7 influence the risk of ischemic heart disease (IHD), ischemic stroke (IS) and cardiovascular risk factors and tested this hypothesis using genetic association studies. Methods: Two loss-of-function SNPs in P2RX7 were genotyped in 1244 IHD cases and 2488 controls as well as 5969 individuals with cardiovascular risk factors. Eleven SNPs in a 250 kb region on chromosome 12 spanning P2RX7 as well as neighboring genes OASL, P2RX4 and CAMKK2 were genotyped in 4138 individuals with IS and 2528 controls. Association was examined using linear and logistic regression models with an additive genetic model. Results: The common loss-of-function variant rs3751143 was significantly associated with a decreased risk of IHD in smokers (P = 0.03) as well as decreased risk of IS (OR 0.89; 95% CI = 0.81-0.97; P = 0.012). In addition, an intronic SNP in CAMKK2, rs2686342, were associated with a decreased risk of IS (OR 0.89; 95% CI = 0.82-0.97; P = 0.011). In subgroup analyses, both SNPs were associated with decreased risk of IS in individuals with hypertension (P = 0.045 and 0.015, respectively). Conclusions: A common loss-of-function missense variant in the gene encoding the P2X7 receptor is associated with reduced risk of IS and with IHD in smokers. These findings might implicate a role of purinergic signaling in atherogenesis or atherothrombosis.

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