Anna Birve
Umeå University
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Featured researches published by Anna Birve.
Nature Genetics | 2009
Michael A. van Es; Jan H. Veldink; Christiaan G.J. Saris; Hylke M. Blauw; Paul W.J. van Vught; Anna Birve; Robin Lemmens; Helenius J. Schelhaas; Ewout J.N. Groen; Mark H. B. Huisman; Anneke J. van der Kooi; Marianne de Visser; Caroline Dahlberg; Karol Estrada; Fernando Rivadeneira; Albert Hofman; Machiel J. Zwarts; Perry T.C. van Doormaal; Dan Rujescu; Eric Strengman; Ina Giegling; Pierandrea Muglia; Barbara Tomik; Agnieszka Slowik; André G. Uitterlinden; Corinna Hendrich; Stefan Waibel; Thomas Meyer; Albert C. Ludolph; Jonathan D. Glass
We conducted a genome-wide association study among 2,323 individuals with sporadic amyotrophic lateral sclerosis (ALS) and 9,013 control subjects and evaluated all SNPs with P < 1.0 × 10−4 in a second, independent cohort of 2,532 affected individuals and 5,940 controls. Analysis of the genome-wide data revealed genome-wide significance for one SNP, rs12608932, with P = 1.30 × 10−9. This SNP showed robust replication in the second cohort (P = 1.86 × 10−6), and a combined analysis over the two stages yielded P = 2.53 × 10−14. The rs12608932 SNP is located at 19p13.3 and maps to a haplotype block within the boundaries of UNC13A, which regulates the release of neurotransmitters such as glutamate at neuromuscular synapses. Follow-up of additional SNPs showed genome-wide significance for two further SNPs (rs2814707, with P = 7.45 × 10−9, and rs3849942, with P = 1.01 × 10−8) in the combined analysis of both stages. These SNPs are located at chromosome 9p21.2, in a linkage region for familial ALS with frontotemporal dementia found previously in several large pedigrees.
Nature Genetics | 2008
Michael A. van Es; Paul W.J. van Vught; Hylke M. Blauw; Lude Franke; Christiaan G.J. Saris; Ludo Van Den Bosch; Sonja W. de Jong; Vianney de Jong; Frank Baas; Ruben van 't Slot; Robin Lemmens; Helenius J. Schelhaas; Anna Birve; K Sleegers; Christine Van Broeckhoven; Jennifer C. Schymick; Bryan J. Traynor; John H. J. Wokke; Cisca Wijmenga; Wim Robberecht; Peter Andersen; Jan H. Veldink; Roel A. Ophoff; Leonard H. van den Berg
We identified a SNP in the DPP6 gene that is consistently strongly associated with susceptibility to amyotrophic lateral sclerosis (ALS) in different populations of European ancestry, with an overall P value of 5.04 × 10−8 in 1,767 cases and 1,916 healthy controls and with an odds ratio of 1.30 (95% confidence interval (CI) of 1.18–1.43). Our finding is the first report of a genome-wide significant association with sporadic ALS and may be a target for future functional studies.
Lancet Neurology | 2007
Michael A. van Es; Paul W.J. van Vught; Hylke M. Blauw; Lude Franke; Christiaan G.J. Saris; Peter Andersen; Ludo Van Den Bosch; Sonja W. de Jong; Ruben van 't Slot; Anna Birve; Robin Lemmens; Vianney de Jong; Frank Baas; Helenius J. Schelhaas; Kristel Sleegers; Christine Van Broeckhoven; John H. J. Wokke; Cisca Wijmenga; Wim Robberecht; Jan H. Veldink; Roel A. Ophoff; Leonard H. van den Berg
BACKGROUND Amyotrophic lateral sclerosis (ALS) is a devastating disease characterised by progressive degeneration of motor neurons in the brain and spinal cord. ALS is thought to be multifactorial, with both environmental and genetic causes. Our aim was to identify genetic variants that predispose for sporadic ALS. METHODS We did a three-stage genome-wide association study in 461 patients with ALS and 450 controls from The Netherlands, using Illumina 300K single-nucleotide polymorphism (SNP) chips. The SNPs that were most strongly associated with ALS were analysed in a further 876 patients and 906 controls in independent sample series from The Netherlands, Belgium, and Sweden. We also investigated the possible pathological functions of associated genes using expression data from whole blood of patients with sporadic ALS and of control individuals who were included in the genome-wide association study. FINDINGS A genetic variant in the inositol 1,4,5-triphosphate receptor 2 gene (ITPR2) was associated with ALS (p=0.012 after Bonferroni correction). Combined analysis of all samples (1337 patients and 1356 controls) confirmed this association (p=3.28x10(-6), odds ratio 1.58, 95% CI 1.30-1.91). ITPR2 expression was greater in the peripheral blood of 126 ALS patients than in that of 126 healthy controls (p=0.00016). INTERPRETATION Genetic variation in ITPR2 is a susceptibility factor for ALS. ITPR2 is a strong candidate susceptibility gene for ALS because it is involved in glutamate-mediated neurotransmission, is one of the main regulators of intracellular calcium concentrations, and has an important role in apoptosis.
Molecular and Cellular Biology | 2003
Feng Tie; Jayashree Prasad-Sinha; Anna Birve; Åsa Rasmuson-Lestander; Peter J. Harte
ABSTRACT Polycomb group (PcG) proteins are required to maintain stable repression of the homeotic genes and others throughout development. The PcG proteins ESC and E(Z) are present in a prominent 600-kDa complex as well as in a number of higher-molecular-mass complexes. Here we identify and characterize a 1-MDa ESC/E(Z) complex that is distinguished from the 600-kDa complex by the presence of the PcG protein Polycomblike (PCL) and the histone deacetylase RPD3. In addition, the 1-MDa complex shares with the 600-kDa complex the histone binding protein p55 and the PcG protein SU(Z)12. Coimmunoprecipitation assays performed on embryo extracts and gel filtration column fractions indicate that, during embryogenesis E(Z), SU(Z)12, and p55 are present in all ESC complexes, while PCL and RPD3 are associated with ESC, E(Z), SU(Z)12, and p55 only in the 1-MDa complex. Glutathione transferase pulldown assays demonstrate that RPD3 binds directly to PCL via the conserved PHD fingers of PCL and the N terminus of RPD3. PCL and E(Z) colocalize virtually completely on polytene chromosomes and are associated with a subset of RPD3 sites. As previously shown for E(Z) and RPD3, PCL and SU(Z)12 are also recruited to the insertion site of a minimal Ubx Polycomb response element transgene in vivo. Consistent with these biochemical and cytological results, Rpd3 mutations enhance the phenotypes of Pcl mutants, further indicating that RPD3 is required for PcG silencing and possibly for PCL function. These results suggest that there may be multiple ESC/E(Z) complexes with distinct functions in vivo.
Annals of Neurology | 2011
Michael A. van Es; Helenius J. Schelhaas; Paul W.J. van Vught; Nicola Ticozzi; Peter Andersen; Ewout J.N. Groen; Claudia Schulte; Hylke M. Blauw; Max Koppers; Frank P. Diekstra; Katsumi Fumoto; Ashley Lyn Leclerc; Pamela Keagle; Bastiaan R. Bloem; H. Scheffer; Bart F L Van Nuenen; Marka van Blitterswijk; Wouter van Rheenen; Anne Marie Wills; Patrick Lowe; Guo-fu Hu; Wenhao Yu; Hiroko Kishikawa; David Wu; Rebecca D. Folkerth; Claudio Mariani; Stefano Goldwurm; Gianni Pezzoli; Philip Van Damme; Robin Lemmens
Several studies have suggested an increased frequency of variants in the gene encoding angiogenin (ANG) in patients with amyotrophic lateral sclerosis (ALS). Interestingly, a few ALS patients carrying ANG variants also showed signs of Parkinson disease (PD). Furthermore, relatives of ALS patients have an increased risk to develop PD, and the prevalence of concomitant motor neuron disease in PD is higher than expected based on chance occurrence. We therefore investigated whether ANG variants could predispose to both ALS and PD.
Human Molecular Genetics | 2013
Karin S. Graffmo; Karin Forsberg; Johan Bergh; Anna Birve; Per Zetterström; Peter Andersen; Stefan L. Marklund; Thomas Brännström
A common cause of amyotrophic lateral sclerosis (ALS) is mutations in the gene encoding superoxide dismutase-1. There is evolving circumstantial evidence that the wild-type protein can also be neurotoxic and that it may more generally be involved in the pathogenesis of ALS. To test this proposition more directly, we generated mice that express wild-type human superoxide dismutase-1 at a rate close to that of mutant superoxide dismutase-1 in the commonly studied G93A transgenic model. These mice developed an ALS-like syndrome and became terminally ill after around 370 days. The loss of spinal ventral neurons was similar to that in the G93A and other mutant superoxide dismutase-1 models, and large amounts of aggregated superoxide dismutase-1 were found in spinal cords, but also in the brain. The findings show that wild-type human superoxide dismutase-1 has the ability to cause ALS in mice, and they support the hypothesis of a more general involvement of the protein in the disease in humans.
Journal of Neurology, Neurosurgery, and Psychiatry | 2010
Michael A. van Es; Caroline Dahlberg; Anna Birve; Jan H. Veldink; Leonard H. van den Berg; Peter Andersen
Objective To estimate the frequency of SOD1 mutations in a large referral cohort of familial amyotrophic lateral sclerosis (FALS) and sporadic amyotrophic lateral sclerosis (SALS) patients from The Netherlands and to compare this frequency with that of other developed countries. Methods A total of 451 sporadic and 55 FALS patients were screened for SOD1 mutations. The authors performed PCR amplification of all five coding exons of SOD1 followed by direct DNA sequencing using forward and reverse primers. Results One novel mutation (p.I99V) and a homozygous p.D90A mutation were identified in SALS patients. In a pedigree with Mendelian dominant FALS, one patient was found to be heterozygous for the p.D90A mutation. SOD1 mutation frequency was found to be significantly lower in The Netherlands compared with other countries with p=0.0004 for FALS (21.9% vs 2.5%) and p=0.005 for SALS (2.5% vs 0.44%). Conclusions The authors demonstrate that SOD1 mutations are rare in The Netherlands in familial and SALS. This observation suggests that the genetic background of amyotrophic lateral sclerosis differs between different populations, countries and regions. This may have consequences for the interpretation of association studies and explain why replication of association studies has proven difficult in amyotrophic lateral sclerosis.
Journal of Medical Genetics | 2014
Chizuru Akimoto; A. Volk; Marka van Blitterswijk; Marleen Van den Broeck; Claire S. Leblond; Serge Lumbroso; William Camu; Birgit Neitzel; Osamu Onodera; Wouter van Rheenen; Susana Pinto; Markus Weber; Bradley Smith; Melanie Proven; Kevin Talbot; Pamela Keagle; Alessandra Chesi; Antonia Ratti; Julie van der Zee; Helena Alstermark; Anna Birve; Daniela Calini; Angelica Nordin; Daniela C Tradowsky; Walter Just; Hussein Daoud; Sabrina Angerbauer; Mariely DeJesus-Hernandez; Takuya Konno; Anjali Lloyd-Jani
Background The GGGGCC-repeat expansion in C9orf72 is the most frequent mutation found in patients with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Most of the studies on C9orf72 have relied on repeat-primed PCR (RP-PCR) methods for detection of the expansions. To investigate the inherent limitations of this technique, we compared methods and results of 14 laboratories. Methods The 14 laboratories genotyped DNA from 78 individuals (diagnosed with ALS or FTD) in a blinded fashion. Eleven laboratories used a combination of amplicon-length analysis and RP-PCR, whereas three laboratories used RP-PCR alone; Southern blotting techniques were used as a reference. Results Using PCR-based techniques, 5 of the 14 laboratories got results in full accordance with the Southern blotting results. Only 50 of the 78 DNA samples got the same genotype result in all 14 laboratories. There was a high degree of false positive and false negative results, and at least one sample could not be genotyped at all in 9 of the 14 laboratories. The mean sensitivity of a combination of amplicon-length analysis and RP-PCR was 95.0% (73.9–100%), and the mean specificity was 98.0% (87.5–100%). Overall, a sensitivity and specificity of more than 95% was observed in only seven laboratories. Conclusions Because of the wide range seen in genotyping results, we recommend using a combination of amplicon-length analysis and RP-PCR as a minimum in a research setting. We propose that Southern blotting techniques should be the gold standard, and be made obligatory in a clinical diagnostic setting.
Neurobiology of Aging | 2013
Ahmeti Kb; Ajroud-Driss S; Ammar Al-Chalabi; Peter Andersen; Armstrong J; Anna Birve; Hylke M. Blauw; Robert H. Brown; Lucie I. Bruijn; Wenjie Chen; Adriano Chiò; Comeau Mc; Simon Cronin; Frank P. Diekstra; Soraya Gkazi A; Jonathan D. Glass; Grab Jd; Ewout J.N. Groen; Jonathan L. Haines; Orla Hardiman; Heller S; Huang J; W.-Y. Hung; Jaworski Jm; Ashley Jones; Khan H; John Landers; Langefeld Cd; P N Leigh; Marion Mc
Amyotrophic lateral sclerosis (ALS) is the third most common adult-onset neurodegenerative disease. Individuals with ALS rapidly progress to paralysis and die from respiratory failure within 3 to 5 years after symptom onset. Epidemiological factors explain only a modest amount of the risk for ALS. However, there is growing evidence of a strong genetic component to both familial and sporadic ALS risk. The International Consortium on Amyotrophic Lateral Sclerosis Genetics was established to bring together existing genome-wide association cohorts and identify sporadic ALS susceptibility and age at symptom onset loci. Here, we report the results of a meta-analysis of the International Consortium on Amyotrophic Lateral Sclerosis Genetics genome-wide association samples, consisting of 4243 ALS cases and 5112 controls from 13 European ancestry cohorts from across the United States and Europe. Eight genomic regions provided evidence of association with ALS, including 9p21.2 (rs3849942, odds ratio [OR] = 1.21; p = 4.41 × 10(-7)), 17p11.2 (rs7477, OR = 1.30; p = 2.89 × 10(-7)), and 19p13 (rs12608932, OR = 1.37, p = 1.29 × 10(-7)). Six genomic regions were associated with age at onset of ALS. The strongest evidence for an age of onset locus was observed at 1p34.1, with comparable evidence at rs3011225 (R(2)(partial) = 0.0061; p = 6.59 × 10(-8)) and rs803675 (R(2)(partial) = 0.0060; p = 6.96 × 10(-8)). These associations were consistent across all 13 cohorts. For rs3011225, individuals with at least 1 copy of the minor allele had an earlier average age of onset of over 2 years. Identifying the underlying pathways influencing susceptibility to and age at onset of ALS may provide insight into the pathogenic mechanisms and motivate new pharmacologic targets for this fatal neurodegenerative disease.
Human Molecular Genetics | 2013
Judith Eschbach; Birgit Schwalenstöcker; Selma M. Soyal; Hanna Bayer; Diana Wiesner; Chizuru Akimoto; Ann-Charloth Nilsson; Anna Birve; Thomas Meyer; Luc Dupuis; Karin M. Danzer; Peter Andersen; Anke Witting; Albert C. Ludolph; Wolfgang Patsch; Patrick Weydt
Amyotrophic lateral sclerosis (ALS) is a devastating, adult-onset neurodegenerative disorder of the upper and lower motor systems. It leads to paresis, muscle wasting and inevitably to death, typically within 3-5 years. However, disease onset and survival vary considerably ranging in extreme cases from a few months to several decades. The genetic and environmental factors underlying this variability are of great interest as potential therapeutic targets. In ALS, men are affected more often and have an earlier age of onset than women. This gender difference is recapitulated in transgenic rodent models, but no underlying mechanism has been elucidated. Here we report that SNPs in the brain-specific promoter region of the transcriptional co-activator PGC-1α, a master regulator of metabolism, modulate age of onset and survival in two large and independent ALS populations and this occurs in a strictly male-specific manner. In complementary animal studies, we show that deficiency of full-length (FL) Pgc-1α leads to a significantly earlier age of onset and a borderline shortened survival in male, but not in female ALS-transgenic mice. In the animal model, FL Pgc-1α-loss is associated with reduced mRNA levels of the trophic factor Vegf-A in males, but not in females. In summary, we indentify PGC-1α as a novel and clinically relevant disease modifier of human and experimental ALS and report a sex-dependent effect of PGC-1α in this neurodegenerative disorder.