| 181. |
- Steingrimsson, Steinn, et al.
(författare)
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Total population-based study of the impact of substance use disorders on the overall survival of psychiatric inpatients
- 2016
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Ingår i: Nordic Journal of Psychiatry. - : Informa UK Limited. - 0803-9488 .- 1502-4725. ; 70:3, s. 161-166
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Tidskriftsartikel (refereegranskat)abstract
- Background: Patients with severe mental illness have a shortened lifespan, and substance use disorder (SUD) is an especially important diagnosis in this respect. There have been no studies comparing directly SUD to other diagnoses in a nationwide cohort. Aims: To directly compare differences in mortality rates of psychiatric inpatients with a discharge diagnosis of SUD versus other psychiatric diagnoses. Methods: A register-based study was made of all patients admitted to psychiatric hospitals in Iceland between 1983 and 2007. Patients were grouped according to discharge diagnoses. Survival with respect to SUD was compared using Cox-proportional hazard ratio, excluding those with an organic mental disorder. Furthermore, the survival of patients with SUD and co-morbid diagnoses was evaluated. Results: A total of 14,281 patients (over the age of 18 years) were admitted to a psychiatric hospital in Iceland during the study period, with a total of 156,356 years of follow-up. For both men and women, a diagnosis of SUD conferred similar mortality as a diagnosis of schizophrenia without SUD, while individuals with a diagnosis of a mood disorder or "other disorders" had significantly lower mortality than SUD. For men with SUD, a co-occurring mental disorder was associated with an increased risk of dying, however, this was not found for women. Conclusions: SUD was the psychiatric diagnosis that had the highest mortality rate among psychiatric inpatients, in both men and women. An additional psychiatric diagnosis on a pre-existing SUD diagnosis did increase the risk for men but not women.
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| 182. |
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| 183. |
- Styrkarsdottir, Unnur, et al.
(författare)
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Severe osteoarthritis of the hand associates with common variants within the ALDH1A2 gene and with rare variants at 1p31.
- 2014
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 46:5, s. 498-502
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Tidskriftsartikel (refereegranskat)abstract
- Osteoarthritis is the most common form of arthritis and is a major cause of pain and disability in the elderly. To search for sequence variants that confer risk of osteoarthritis of the hand, we carried out a genome-wide association study (GWAS) in subjects with severe hand osteoarthritis, using variants identified through the whole-genome sequencing of 2,230 Icelanders. We found two significantly associated loci in the Icelandic discovery set: at 15q22 (frequency of 50.7%, odds ratio (OR) = 1.51, P = 3.99 × 10(-10)) in the ALDH1A2 gene and at 1p31 (frequency of 0.02%, OR = 50.6, P = 9.8 × 10(-10)). Among the carriers of the variant at 1p31 is a family with several members in whom the risk allele segregates with osteoarthritis. The variants within the ALDH1A2 gene were confirmed in replication sets from The Netherlands and the UK, yielding an overall association of OR = 1.46 and P = 1.1 × 10(-11) (rs3204689).
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| 184. |
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| 185. |
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| 186. |
- Vaysse, Amaury, et al.
(författare)
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Identification of genomic regions associated with phenotypic variation between dog breeds using selection mapping
- 2011
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Ingår i: PLOS Genetics. - : Public Library of Science (PLoS). - 1553-7390 .- 1553-7404. ; 7:10, s. e1002316-
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Tidskriftsartikel (refereegranskat)abstract
- The extraordinary phenotypic diversity of dog breeds has been sculpted by a unique population history accompanied by selection for novel and desirable traits. Here we perform a comprehensive analysis using multiple test statistics to identify regions under selection in 509 dogs from 46 diverse breeds using a newly developed high-density genotyping array consisting of >170,000 evenly spaced SNPs. We first identify 44 genomic regions exhibiting extreme differentiation across multiple breeds. Genetic variation in these regions correlates with variation in several phenotypic traits that vary between breeds, and we identify novel associations with both morphological and behavioral traits. We next scan the genome for signatures of selective sweeps in single breeds, characterized by long regions of reduced heterozygosity and fixation of extended haplotypes. These scans identify hundreds of regions, including 22 blocks of homozygosity longer than one megabase in certain breeds. Candidate selection loci are strongly enriched for developmental genes. We chose one highly differentiated region, associated with body size and ear morphology, and characterized it using high-throughput sequencing to provide a list of variants that may directly affect these traits. This study provides a catalogue of genomic regions showing extreme reduction in genetic variation or population differentiation in dogs, including many linked to phenotypic variation. The many blocks of reduced haplotype diversity observed across the genome in dog breeds are the result of both selection and genetic drift, but extended blocks of homozygosity on a megabase scale appear to be best explained by selection. Further elucidation of the variants under selection will help to uncover the genetic basis of complex traits and disease.
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| 188. |
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