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A large-sample assessment of possible association between ischaemic stroke and rs12188950 in the PDE4D gene

Artikel i vetenskaplig tidskrift
Författare H. Lovkvist
Sören Olsson
P. Hoglund
O. Melander
Christina Jern
Magnus Sjögren
G. Engstrom
J. G. Smith
B. Hedblad
G. Andsberg
H. Delavaran
Katarina Jood
U. Kristoffersson
H. Luthman
B. Norrving
A. Lindgren
Publicerad i European Journal of Human Genetics
Volym 20
Nummer/häfte 7
Sidor 783-789
ISSN 1018-4813
Publiceringsår 2012
Publicerad vid Institutionen för neurovetenskap och fysiologi, sektionen för klinisk neurovetenskap och rehabilitering
Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi
Institutionen för socialt arbete
Sidor 783-789
Språk en
Länkar dx.doi.org/10.1038/ejhg.2012.4
Ämnesord stroke, polymorphism, PDE4D, rs12188950, meta-analysis, phosphodiesterase 4d gene, 5-lipoxygenase activating protein, confers, risk, population, polymorphisms, variants, region, metaanalysis, alox5ap, haplotype
Ämneskategorier Annan medicin och hälsovetenskap

Sammanfattning

Previous reports have shown ambiguous findings regarding the possible associations between ischaemic stroke (IS) and single nucleotide polymorphisms (SNPs) in the phosphodiesterase 4D (PDE4D) gene region. The SNP rs12188950 (or SNP45) has often been studied in this context. We performed a multi-centre study involving a large sample of 2599 IS patients and 2093 control subjects from the south and west regions of Sweden to replicate previous studies regarding IS risk and rs12188950. Subjects from Lund Stroke Register (LSR), Malmo Diet and Cancer Study (MDC) and Sahlgrenska Academy Study on Ischemic Stroke (SAHLSIS) were enroled. Subgroups of participants with hypertension and participants <55 years of age, as well as the TOAST subgroups large vessel disease, small vessel disease and cardioembolism, were also assessed. Univariate odds ratios (ORs) and ORs controlling for hypertension, diabetes and current smoking were calculated. We additionally performed a meta-analysis including 10 500 patients and 10 102 control subjects from 17 publications (including the present study). When assessing pooled data from LSR, MDC and SAHLSIS we obtained no association between IS and rs12188950 for all participants (OR=0.93; 95% confidence interval (CI): 0.83-1.05). Significant associations were not found for hypertensive participants or participants with age <55, or when separately evaluating patients from the three different TOAST subgroups. The meta-analysis showed no significant overall estimate (OR=0.96; 95% CI: 0.89-1.04) with significant heterogeneity for random effect (P=0.042). No effect from rs12188950 on IS was found from either our pooled multi-centre data or the performed meta-analysis. We did not find any association between the examined subgroups and rs12188950 either. European Journal of Human Genetics (2012) 20, 783-789; doi: 10.1038/ejhg.2012.4; published online 25 January 2012

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