A5069925256- Genetic Associations and Epidemiology
- Bioinformatics and Genomic Networks
- Alzheimer's disease research and treatments
- Nuclear physics research studies
- Quantum Chromodynamics and Particle Interactions
- High-Energy Particle Collisions Research
- Genetics and Neurodevelopmental Disorders
- Dementia and Cognitive Impairment Research
- Genetic Mapping and Diversity in Plants and Animals
- Genetic Syndromes and Imprinting
- Genetic and phenotypic traits in livestock
- RNA Research and Splicing
- Quantum, superfluid, helium dynamics
- Genomics and Rare Diseases
- biodegradable polymer synthesis and properties
- Neuroblastoma Research and Treatments
- Microbial Metabolic Engineering and Bioproduction
- Nuclear Receptors and Signaling
- Health, Environment, Cognitive Aging
- Particle physics theoretical and experimental studies
- Clusterin in disease pathology
- Neuroinflammation and Neurodegeneration Mechanisms
- Extracellular vesicles in disease
- Advanced Chemical Physics Studies
- Studies on Chitinases and Chitosanases
German Center for Neurodegenerative Diseases
2012-2022
University of Bonn
2007-2018
SUNY Upstate Medical University
2018
Southwest Jiaotong University
2018
Shanghai Jiao Tong University
2018
Life & Brain (Germany)
2017-2018
Wuxi People's Hospital
2018
Nanjing Medical University
2018
University Hospital Bonn
2017
Forschungszentrum Jülich
2010
Few data are available concerning the role of risk markers for Alzheimer's disease (AD) in progression to AD dementia among subjects with mild cognitive impairment (MCI). We therefore investigated well-known AD-associated single-nucleotide polymorphism (SNP) from MCI dementia. Four independent sets were included analysis: (a) German study on Aging, Cognition and Dementia primary care patients (n=853); (b) Competence Network (n=812); (c) Fundació ACE Barcelona, Spain (n=1245); (d) set...
To follow-up loci discovered by the International Genomics of Alzheimer's Disease Project, we attempted independent replication 19 single nucleotide polymorphisms (SNPs) in a large Spanish sample (Fundació ACE data set; 1808 patients and 2564 controls). Our results corroborate association with four SNPs located genes INPP5D, MEF2C, ZCWPW1 FERMT2, respectively. Of these, was only SNP to withstand correction for multiple testing (P=0.000655). Furthermore, identify TRIP4 (rs74615166) as novel...
Bipolar disorder (BD) is a highly heritable neuropsychiatric disease characterized by recurrent episodes of mania and depression. BD shows substantial clinical genetic overlap with other psychiatric disorders, in particular schizophrenia (SCZ). The genes underlying this etiological remain largely unknown. A recent SCZ genome wide association study (GWAS) the Psychiatric Genomics Consortium identified 128 independent genome-wide significant single nucleotide polymorphisms (SNPs). present...
Abstract Bipolar disorder (BD) is a severe and highly heritable neuropsychiatric with lifetime prevalence of 1%. Molecular genetic studies have identified the first BD susceptibility genes. However, disease pathways remain largely unknown. Accumulating evidence suggests that microRNAs, class small noncoding RNAs, contribute to basic mechanisms underlying brain development plasticity, suggesting their possible involvement in pathogenesis several psychiatric disorders, including BD. In present...
Cerebrospinal fluid amyloid-beta 1–42 (Aβ1–42) and phosphorylated Tau at position 181 (pTau181) are biomarkers of Alzheimer's disease (AD). We performed an analysis meta-analysis genome-wide association study data on Aβ1–42 pTau181 in AD dementia patients followed by independent replication. An was found between level a single-nucleotide polymorphism SUCLG2 (rs62256378) (P = 2.5×10−12). interaction APOE genotype rs62256378 detected 9.5 × 10−5), with the strongest effect being observed...
Making use of the recently developed chiral power counting for physics nuclear matter [1,2], we evaluate in-medium quark condensate up to next-to-leading order both symmetric and neutron matter. Our calculation includes full iteration leading local one-pion exchange nucleon-nucleon interactions. Interestingly, find a cancellation between contributions stemming from mass dependence nucleon appearing in Only originating explicit pion survive. This is reason previous observations concerning...
<i>Objectives:</i> Pathway association analysis (PAA) tests for an excess of moderately significant SNPs in genes from a common pathway. <i>Methods:</i> We present Monte-Carlo simulation framework that allows to formulate the main ideas existing PAA approaches using self-contained rather than competitive null hypothesis. A stand-alone implementation INTERSNP makes time-consuming communication with standard GWAS software redundant. By additional parallelization OpenMP...
Meta-analysis (MA) is widely used to pool genome-wide association studies (GWASes) in order a) increase the power detect strong or weak genotype effects b) as a result verification method. As consequence of differing SNP panels among genotyping chips, imputation method choice within GWAS consortia avoid losing too many SNPs MA. YAMAS (Yet Another Meta Analysis Software), however, enables cross-GWAS conclusions prior finished and polished runs, which eventually are time-consuming.Here we...
A usually confronted problem in association studies is the occurrence of population stratification. In this work, we propose a novel framework to consider matchings contexts genome-wide and sequencing studies. We employ pairwise groupwise optimal case-control present an agglomerative hierarchical clustering, both based on genetic similarity score matrix. order ensure that resulting matches obtained from matching algorithm capture correctly structure, discuss two stratum validation methods....
We derive a novel chiral power counting scheme for in-medium perturbation theory with explicit nucleonic and pionic degrees of freedom coupled to external sources. It allows systematic expansion taking into account local as well pion-mediated inter-nucleon interactions. Based on this counting, one can identify classes non-perturbative diagrams that require resummation. Within scheme, the pion self-energy in asymmetric nuclear matter is analyzed calculated up-to-and-including next-to-leading...
Important methodological advancements in rare variant association testing have been made recently, among them collapsing tests, kernel methods and the variable threshold (VT) technique. Typically, variants from a region of interest are tested for as group ('bin'). Rare studies already routinely performed whole-exome sequencing studies. As an alternative approach, we propose pipeline analysis imputed data develop respective quality control criteria. We provide suggestions choice construction...
We present a genome-wide association study of quantitative trait, "progression systolic blood pressure in time," which 142 unrelated individuals the Genetic Analysis Workshop 18 real genotype data were analyzed. Information on and other phenotypic covariates was missing at certain time points for considerable part sample. observed that dropout process causing missingness is not independent initial pressure; is, completely random. However, after adjustment age, impact dropouts no longer...
Abstract Motivation: The functional mechanisms underlying disease association remain unknown for Genome-wide Association Studies (GWAS) susceptibility variants located outside coding regions. Synthesis of effects from multiple surrounding has been suggested as an explanation hard-to-interpret findings. We define filter criteria based on linkage disequilibrium measures and allele frequencies which reflect expected properties synthesizing variant sets. For eligible candidate sets, we search...
Recently, we reported an independent replication of loci discovered or suggested by the International Genomics Alzheimer's Disease Project (IGAP) in a large Spanish sample (Fundació ACE data set; 1808 AD patients and 2564 controls). This effort permitted us to identify TRIP4 (rs74615166) as novel genome-wide significant locus for disease (AD) risk (odds ratio = 1.31; confidence interval 95%(1.19-1.44); P 9.74 × 10−9)(Ruiz et al Translational Psychiatry; manuscript press). After this success,...
Deviation from multiplicativity of genetic risk factors is biologically plausible and might explain why Genome-wide association studies (GWAS) so far could unravel only a portion disease heritability. Still, evidence for SNP-SNP epistasis has rarely been reported, suggesting that 2-SNP models are overly simplistic. In this context, it was recently proposed the architecture complex diseases follow limiting pathway models. These defined by critical allele load imply multiple high-dimensional...
We report on the recent developments of a new effective field theory for nuclear matter [1,2,3]. present first chiral power counting that takes into account both short-- and long--range inter-nucleon interactions. It also identifies non-perturbative strings diagrams, related to iteration nucleon-nucleon interactions, which have be re-summed. The methods unitary perturbation has been shown useful tool in order perform those resummations. Results up next-to-leading ground state energy per...
We review on a novel chiral power counting scheme for in-medium perturbation theory with nucleons and pions as degrees of freedom. It allows systematic expansion taking into account local well pion-mediated inter-nucleon interactions. Based this counting, one can identify classes nonperturbative diagrams that require resummation. As method performing those resummations we the techniques Unitary Chiral Pertubation Theory nucleon-nucleon then apply both non-perturbative methods to example...
Alzheimer's disease (AD) is a severe multifactorial disorder and the individual genetic predisposition plays decisive role in its etiology. While genome-wide association studies have been successful identifying common risk factors for AD, w hole exome sequencing provides promising strategy to identify rare coding variants that increase familial but may also confer sporadic AD (sAD). This led identification of TREM2 PLD3 - as novel susceptibility genes. has repeatedly replicated factor sAD,...