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- Bronson, P. G., et al.
(författare)
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Common variants at PVT1, ATG13-AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency
- 2016
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 48:11, s. 1425-1429
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Tidskriftsartikel (refereegranskat)abstract
- Selective immunoglobulin A deficiency (IgAD) is the most common p rimary immunodeficiency in Europeans. Our genome-wide association study (GWAS) meta-analysis of 1,635 patients with IgAD and 4,852 controls identified four new significant (P < 5 x 10(-8)) loci and association with a rare IFIH1 variant (p.11e923Val). Peak new variants (PVT1, P = 4.3 x 10(-11); ATG13-AMBRA1, P = 6.7 x 10(-10); AHI1, P = 8.4 x 10(-10); CLEC16A, P = 1.4 x 10(-9)) overlapped with autoimmune markers (3/4) and correlated with 21 putative regulatory variants, including expression quantitative trait loci (eQTLs) for AHI1 and DEXI and DNase hypersensitivity sites in FOXP3(+) regulatory T cells. Pathway analysis of the meta-analysis results showed striking association with the KEGG pathway for IgA production (pathway P < 0.0001), with 22 of the 30 annotated pathway genes containing at least one variant with P <= 0.05 in the IgAD meta-analysis. These data suggest that a complex network of genetic effects, including genes known to influence the biology of IgA production, contributes to IgAD.
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| 2. |
- Schmidt-Lucke, C, et al.
(författare)
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Effect of assisted walking-movement in patients with genetic and acquired neuromuscular disorders with the motorised Innowalk device : an international case study meta-analysis
- 2019
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Ingår i: PeerJ. - : PeerJ. - 2167-8359. ; 7, s. 7098-7098
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Tidskriftsartikel (refereegranskat)abstract
- People with physical disabilities (PD) suffer from consequences due to lack of physical activity and consequently, are at increased risk of chronic diseases. We aimed to evaluate the ability of a motorised assistive device for dynamic standing with weight-bearing in addition to standard state-of-the-art therapy to improve clinical outcome in a meta-analysis of available studies. A total of 11 studies were identified from different European countries analysing the effect of the dynamic device Innowalk. Raw data of nine studies were pooled including a total of 31 patients observed between 2009 and 2017. Standardised questionnaires and physical outcomes were examined in this exploratory meta-analysis. We recorded patients' characteristics, duration, intensity, and location of usage as well as general clinical outcomes and improvement of passive range of motion (PROM). The analysed population consisted in 90% cases of patients younger than 18 years of age. Patients were severely disabled individuals (aged 8 (6-10) years; 58% male; 67% non-ambulatory, 86% cerebral palsy). A total of 94% used the Innowalk in a home-based or day-care setting. For nearly all individuals (94%), improvements were recorded for: walking or weight-bearing transfer (n = 13), control/strength of the trunk or head (n = 6), joint mobility (n = 14), sleep (n = 4 out of 6/67%), or muscle strength (n = 17), vital functions (n = 16), bowel function (n = 10), attention/orientation (n = 2). PROM of the hip (flexion, abduction, and adduction) significantly (p < 0.001 for multiple comparisons) increased after 1 month (p < 0.05 flexion, adduction) and further after 5 months (p < 0.05 each) in contrast (p < 0.05 each) to a control group with state-of-the-art therapy. Similarly, PROM showed a trend towards improvement in dorsal extension of the ankle (p = 0.07). In summary, this is the first report of a novel device with additional benefit to standard therapy for severe PD. These intriguing results warrant the planned prospective randomised controlled trial to prove the concept and mechanism of action of this device.
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