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- Ng, M Y M, et al.
(författare)
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Meta-analysis of 32 genome-wide linkage studies of schizophrenia
- 2009
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Ingår i: Molecular Psychiatry. - : Springer Science and Business Media LLC. - 1359-4184 .- 1476-5578. ; 14:8, s. 774-785
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Tidskriftsartikel (refereegranskat)abstract
- A genome scan meta-analysis (GSMA) was carried out on 32 independent genome-wide linkage scan analyses that included 3255 pedigrees with 7413 genotyped cases affected with schizophrenia (SCZ) or related disorders. The primary GSMA divided the autosomes into 120 bins, rank-ordered the bins within each study according to the most positive linkage result in each bin, summed these ranks (weighted for study size) for each bin across studies and determined the empirical probability of a given summed rank (P(SR)) by simulation. Suggestive evidence for linkage was observed in two single bins, on chromosomes 5q (142-168 Mb) and 2q (103-134 Mb). Genome-wide evidence for linkage was detected on chromosome 2q (119-152 Mb) when bin boundaries were shifted to the middle of the previous bins. The primary analysis met empirical criteria for 'aggregate' genome-wide significance, indicating that some or all of 10 bins are likely to contain loci linked to SCZ, including regions of chromosomes 1, 2q, 3q, 4q, 5q, 8p and 10q. In a secondary analysis of 22 studies of European-ancestry samples, suggestive evidence for linkage was observed on chromosome 8p (16-33 Mb). Although the newer genome-wide association methodology has greater power to detect weak associations to single common DNA sequence variants, linkage analysis can detect diverse genetic effects that segregate in families, including multiple rare variants within one locus or several weakly associated loci in the same region. Therefore, the regions supported by this meta-analysis deserve close attention in future studies.
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| 2. |
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| 3. |
- Petursson, P, et al.
(författare)
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Patients with a history of diabetes have a lower survival rate after in-hospital cardiac arrest.
- 2008
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Ingår i: Resuscitation. - : Elsevier Ireland Ltd. - 0300-9572 .- 1873-1570. ; 76:1, s. 37-42
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Tidskriftsartikel (refereegranskat)abstract
- AIM: To describe the association between a history of diabetes and outcome among patients suffering an in-hospital cardiac arrest. METHOD: All patients suffering an in-hospital cardiac arrest in whom cardiopulmonary resuscitation (CPR) was attempted at Sahlgrenska University Hospital in Göteborg between 1994 and 2006 and at nine further hospitals in Sweden between 2005 and 2006. RESULTS: In all, 1810 patients were included in the survey, 395 (22%) of whom had a previous history of diabetes. Patients with a history of diabetes differed from those without such a history by having a higher prevalence of previous myocardial infarction, stroke, heart failure and renal disease. They were more frequently treated with anti-arrhythmic drugs during resuscitation. Whereas immediate survival did not differ between groups (51.7% and 53.1%, respectively), patients with diabetes were discharged alive from hospital (29.3%) less frequently compared with those without diabetes (37.6%). When correcting for dissimilarities at baseline, the adjusted odds ratio for being discharged alive (diabetes/no diabetes) was 0.57 (95% CL 0.40-0.79). CONCLUSION: Among patients suffering an in-hospital cardiac arrest in Sweden in whom CPR was attempted, 22% had a history of diabetes. These patients had a lower survival rate, which cannot simply be explained by different co-morbidity.
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| 4. |
- Thorleifsson, Gudmar, et al.
(författare)
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Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma
- 2007
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Ingår i: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 317:5843, s. 1397-1400
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Tidskriftsartikel (refereegranskat)abstract
- Glaucoma is a leading cause of irreversible blindness. A genome-wide search yielded multiple single-nucleotide polymorphisms (SNPs) in the 15q24.1 region associated with glaucoma. Further investigation revealed that the association is confined to exfoliation glaucoma (XFG). Two nonsynonymous SNPs in exon 1 of the gene LOXL1 explain the association, and the data suggest that they confer risk of XFG mainly through exfoliation syndrome (XFS). About 25% of the general population is homozygous for the highest-risk haplotype, and their risk of suffering from XFG is more than 100 times that of individuals carrying only low-risk haplotypes. The population-attributable risk is more than 99%. The product of LOXL1 catalyzes the formation of elastin fibers found to be a major component of the lesions in XFG.
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