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Sökning: WFRF:(Mandl M) > (2020-2023)

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  • Patterson, Nick, et al. (författare)
  • Large-scale migration into Britain during the Middle to Late Bronze Age
  • 2022
  • Ingår i: Nature. - : Nature Publishing Group. - 0028-0836 .- 1476-4687. ; , s. 588-594
  • Tidskriftsartikel (refereegranskat)abstract
    • Present-day people from England and Wales harbour more ancestry derived from Early European Farmers (EEF) than people of the Early Bronze Age1. To understand this, we generated genome-wide data from 793 individuals, increasing data from the Middle to Late Bronze and Iron Age in Britain by 12-fold, and Western and Central Europe by 3.5-fold. Between 1000 and 875 BC, EEF ancestry increased in southern Britain (England and Wales) but not northern Britain (Scotland) due to incorporation of migrants who arrived at this time and over previous centuries, and who were genetically most similar to ancient individuals from France. These migrants contributed about half the ancestry of Iron Age people of England and Wales, thereby creating a plausible vector for the spread of early Celtic languages into Britain. These patterns are part of a broader trend of EEF ancestry becoming more similar across central and western Europe in the Middle to Late Bronze Age, coincident with archaeological evidence of intensified cultural exchange2-6. There was comparatively less gene flow from continental Europe during the Iron Age, and Britain's independent genetic trajectory is also reflected in the rise of the allele conferring lactase persistence to ~50% by this time compared to ~7% in central Europe where it rose rapidly in frequency only a millennium later. This suggests that dairy products were used in qualitatively different ways in Britain and in central Europe over this period.
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  • Gessl, I, et al. (författare)
  • TENDERNESS AND RADIOGRAPHIC PROGRESSION IN RHEUMATOID ARTHRITIS AND PSORIATIC ARTHRITIS
  • 2022
  • Ingår i: ANNALS OF THE RHEUMATIC DISEASES. - : BMJ. - 0003-4967 .- 1468-2060. ; 81, s. 1231-1231
  • Konferensbidrag (övrigt vetenskapligt/konstnärligt)abstract
    • In inflammatory arthritis swelling is regarded as a sign of synovitis and is associated with radiographic progression. However, the association of tenderness with radiographic progression is not clear.ObjectivesTo assess the predictive value of tenderness alone and with consideration of sonographic signs for synovitis, disease duration and baseline radiographic damage for subsequent radiographic progression in rheumatoid arthritis (RA) and psoriatic arthritis (PsA).MethodsClinical and sonographic (grey scale (GS) and power Doppler (PD)) examination of 22 joints of the hand were performed cross-sectionally in consecutive patients with RA and PsA with at least one tender joint. Radiographs were scored for erosions and joint space narrowing (JSN) at inclusion and radiographic progression of each joint was assessed after 2 years. The impact of tenderness on progression was analyzed in non-swollen joints for RA and PsA separately with logistic regression analyses. As a second step, the association of PD, GS, disease duration, C-reactive protein, baseline erosions and JSN and global joint counts with subsequent structural damage was assessed using univariate logistic regression in tender non-swollen joints again on the joint level.ResultsWe included 1207 joints in 54 RA patients and 396 joints in 18 PsA patients. Tenderness was associated with subsequent radiographic progression in non-swollen joints in PsA (OR 3.44, 95%CI 1.78-6.62, p<0.01) but not in RA (OR 1.60, 95% CI 0.99-2.48, p=0.55) (Figure 1). In tender non-swollen joints in RA patients, PD (OR 3.74, 95% CI 1.10-13.30, p=0.04) and baseline erosions (OR 4.42, 95% CI 1.22-15.95, p=0.02) had a significant impact on radiographic progression. In PsA patients, PD (OR 8.46, 95% CI 1.72-41.72, p<0.01), baseline erosions (OR 6.71, 95% CI 1.43-31.39, p=0.02), baseline JSN (OR 7.27, 95% CI 1.47-35.89, p=0.02) and SJC (OR 1.26, 95%CI 1.07-1.48, p<0.01) were associated with radiographic progression.Figure 1.The proportion of joints with progression in tender non-swollen and non-tender non-swollen joints in patients with rheumatoid and psoriatic arthritis; NTNS: non-tender non-swollen; TNS: tender non-swollenConclusionOur findings indicate that tenderness in non-swollen joints is associated with subsequent radiographic progression in PsA, while in RA it is a risk factor for radiographic progression only in the presence of additional factors, such as sonographic signs for synovitis.Disclosure of InterestsIrina Gessl: None declared, Mihaela Popescu: None declared, Gabriela Supp: None declared, Thomas Deimel: None declared, Paul Studenic: None declared, Martina Durechova: None declared, Michael Zauner: None declared, Josef S. Smolen Speakers bureau: AbbVie, Amgen, AstraZeneca, Astro, Bristol-Myers Squibb, Celgene, Celltrion, Chugai, Gilead, ILTOO, Janssen, Lilly, Merck Sharp & Dohme, Novartis- Sandoz, Pfizer, Roche, Samsung, Sanofi, and UCB, Grant/research support from: Abbvie, AstraZeneca, Lilly and Roche, Daniel Aletaha Speakers bureau: Abbvie, Amgen, Lilly, Janssen, Merck, Novartis, Pfizer, Roche, Sandoz, Grant/research support from: Abbvie, Amgen, Lilly, Novartis, Roche, SoBi, Sanofi, Peter Mandl Speakers bureau: from AbbVie, Janssen and Novartis, Grant/research support from: from AbbVie, BMS, Novartis, Janssen, MSD and UCB;
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16.
  • Lundtoft, Christian, et al. (författare)
  • Strong Association of Combined Genetic Deficiencies in the Classical Complement Pathway With Risk of Systemic Lupus Erythematosus and Primary Sjogren's Syndrome
  • 2022
  • Ingår i: Arthritis & Rheumatology. - : Wiley. - 2326-5191 .- 2326-5205. ; 74:11, s. 1842-1850
  • Tidskriftsartikel (refereegranskat)abstract
    • Objective Complete genetic deficiency of the complement component C2 is a strong risk factor for monogenic systemic lupus erythematosus (SLE), but whether heterozygous C2 deficiency adds to the risk of SLE or primary Sjogren's syndrome (SS) has not been studied systematically. This study was undertaken to investigate potential associations of heterozygous C2 deficiency and C4 copy number variation with clinical manifestations in patients with SLE and patients with primary SS. Methods The presence of the common 28-bp C2 deletion rs9332736 and C4 copy number variation was examined in Scandinavian patients who had received a diagnosis of SLE (n = 958) or primary SS (n = 911) and in 2,262 healthy controls through the use of DNA sequencing. The concentration of complement proteins in plasma and classical complement function were analyzed in a subgroup of SLE patients. Results Heterozygous C2 deficiency-when present in combination with a low C4A copy number-substantially increased the risk of SLE (odds ratio [OR] 10.2 [95% confidence interval (95% CI) 3.5-37.0]) and the risk of primary SS (OR 13.0 [95% CI 4.5-48.4]) when compared to individuals with 2 C4A copies and normal C2. For patients heterozygous for rs9332736 with 1 C4A copy, the median age at diagnosis was 7 years earlier in patients with SLE and 12 years earlier in patients with primary SS when compared to patients with normal C2. Reduced C2 levels in plasma (P = 2 x 10(-9)) and impaired function of the classical complement pathway (P = 0.03) were detected in SLE patients with heterozygous C2 deficiency. Finally, in a primary SS patient homozygous for C2 deficiency, we observed low levels of anti-Scl-70, which suggests a risk of developing systemic sclerosis or potential overlap between primary SS and other systemic autoimmune diseases. Conclusion We demonstrate that a genetic pattern involving partial deficiencies of C2 and C4A in the classical complement pathway is a strong risk factor for SLE and for primary SS. Our results emphasize the central role of the complement system in the pathogenesis of both SLE and primary SS.
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  • Martinez-Monleon, Angela, et al. (författare)
  • Amplification of CDK4 and MDM2: a detailed study of a high-risk neuroblastoma subgroup
  • 2022
  • Ingår i: Scientific Reports. - : Springer Science and Business Media LLC. - 2045-2322. ; 12:1
  • Tidskriftsartikel (refereegranskat)abstract
    • In neuroblastoma, MYCN amplification and 11q-deletion are important, although incomplete, markers of high-risk disease. It is therefore relevant to characterize additional alterations that can function as prognostic and/or predictive markers. Using SNP-microarrays, a group of neuroblastoma patients showing amplification of one or multiple 12q loci was identified. Two loci containing CDK4 and MDM2 were commonly co-amplified, although amplification of either locus in the absence of the other was observed. Pharmacological inhibition of CDK4/6 with ribociclib or abemaciclib decreased proliferation in a broad set of neuroblastoma cell lines, including CDK4/MDM2-amplified, whereas MDM2 inhibition by Nutlin-3a was only effective in p53(wild-type) cells. Combined CDK4/MDM2 targeting had an additive effect in p53(wild-type) cell lines, while no or negative additive effect was observed in p53(mutated) cells. Most 12q-amplified primary tumors were of abdominal origin, including those of intrarenal origin initially suspected of being Wilms' tumor. An atypical metastatic pattern was also observed with low degree of bone marrow involvement, favoring other sites such as the lungs. Here we present detailed biological data of an aggressive neuroblastoma subgroup hallmarked by 12q amplification and atypical clinical presentation for which our in vitro studies indicate that CDK4 and/or MDM2 inhibition also could be beneficial.
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