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- Lessard, Christopher J., et al.
(författare)
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Variants at multiple loci implicated in both innate and adaptive immune responses are associated with Sjogren's syndrome
- 2013
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Ingår i: Nature Genetics. - : NATURE PUBLISHING GROUP, 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA. - 1061-4036 .- 1546-1718. ; 45:11, s. 1284-
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Tidskriftsartikel (refereegranskat)abstract
- Sjogrens syndrome is a common autoimmune disease (affecting similar to 0.7% of European Americans) that typically presents as keratoconjunctivitis sicca and xerostomia. Here we report results of a large-scale association study of Sjogrens syndrome. In addition to strong association within the human leukocyte antigen (HLA) region at 6p21 (P-meta = 7.65 x 10(-114)), we establish associations with IRF5-TNPO3 (P-meta = 2.73 x 10(-19)), STAT4 (Pmeta = 6.80 x 10-15), IL12A (P-meta = 1.17 x 10(-10)), FAM167ABLK (P-meta = 4.97 x 10(-10)), DDX6-CXCR5 (P-meta = 1.10 x 10(-8)) and TNIP1 (P-meta = 3.30 x 10(-8)). We also observed suggestive associations (P-meta andlt; 5 x 10(-5)) with variants in 29 other regions, including TNFAIP3, PTTG1, PRDM1, DGKQ, FCGR2A, IRAK1BP1, ITSN2 and PHIP, among others. These results highlight the importance of genes that are involved in both innate and adaptive immunity in Sjogrens syndrome.
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| 2. |
- Pålsson, Simon Henry, et al.
(författare)
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Registration of health-related quality of life in a cohort of patients undergoing cholecystectomy.
- 2011
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Ingår i: ISRN Gastroenterology. - : Hindawi Limited. - 2090-4398 .- 2090-4401. ; 2011
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Tidskriftsartikel (refereegranskat)abstract
- Background. Assessment of gallstone surgery's impact on quality of life (QoL) requires a reliable instrument with sufficient responsiveness. The instrument should also enable estimation of each individual's expected condition in an unaffected state. Materials and Methods. The Swedish Register for Gallstone Surgery and ERCP (GallRiks) registers indications, complications, results, and QoL-outcome of gallstone surgery. In 2008, 68 hospitals were registered in GallRiks. Between 2007 and 2008, SF-36 (a short form health survey) was filled in 1-2 weeks pre- and 6-9 months postoperatively at five of the units. Expected scores were determined from an age- and gender-matched Swedish population (AGMSP). Results. Of the 330 patients, 212 responded to SF36 pre- and postoperatively (RR = 64%; 212/330). Standardized response means ranged from 0.20 to 0.93 for the SF-36 subscores. Highest responsiveness was seen for bodily pain. Preoperatively, all subscores were significantly lower than in the AGMSP (all P < .05). Six months postoperatively, there was no significant difference between any of the observed and expected quality of life subscales. Conclusion. SF-36 is a useful instrument for measuring the impact of gallstone surgery on QoL. The postinterventional health status equalled or even exceeded the AGMSP for all subscales.
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| 3. |
- Thompson, Paul M., et al.
(författare)
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The ENIGMA Consortium : large-scale collaborative analyses of neuroimaging and genetic data
- 2014
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Ingår i: BRAIN IMAGING BEHAV. - : Springer Science and Business Media LLC. - 1931-7557 .- 1931-7565. ; 8:2, s. 153-182
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Tidskriftsartikel (refereegranskat)abstract
- The Enhancing NeuroImaging Genetics through Meta-Analysis (ENIGMA) Consortium is a collaborative network of researchers working together on a range of large-scale studies that integrate data from 70 institutions worldwide. Organized into Working Groups that tackle questions in neuroscience, genetics, and medicine, ENIGMA studies have analyzed neuroimaging data from over 12,826 subjects. In addition, data from 12,171 individuals were provided by the CHARGE consortium for replication of findings, in a total of 24,997 subjects. By meta-analyzing results from many sites, ENIGMA has detected factors that affect the brain that no individual site could detect on its own, and that require larger numbers of subjects than any individual neuroimaging study has currently collected. ENIGMA's first project was a genome-wide association study identifying common variants in the genome associated with hippocampal volume or intracranial volume. Continuing work is exploring genetic associations with subcortical volumes (ENIGMA2) and white matter microstructure (ENIGMA-DTI). Working groups also focus on understanding how schizophrenia, bipolar illness, major depression and attention deficit/hyperactivity disorder (ADHD) affect the brain. We review the current progress of the ENIGMA Consortium, along with challenges and unexpected discoveries made on the way.
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