Priyanka Gorijala
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View article: Trans-eQTL mapping prioritises USP18 as a negative regulator of interferon response at a lupus risk locus
Trans-eQTL mapping prioritises USP18 as a negative regulator of interferon response at a lupus risk locus Open
Although genome-wide association studies have provided valuable insights into the genetic basis of complex traits and diseases, translating these findings to causal genes and their downstream mechanisms remains challenging. We performed tr…
View article: European and African ancestry-specific plasma protein-QTL and metabolite-QTL analyses identify ancestry-specific T2D effector proteins and metabolites
European and African ancestry-specific plasma protein-QTL and metabolite-QTL analyses identify ancestry-specific T2D effector proteins and metabolites Open
View article: Genome‐wide association of Tau imaging and plasma biomarkers in adults with Down Syndrome
Genome‐wide association of Tau imaging and plasma biomarkers in adults with Down Syndrome Open
Background Adults with Down Syndrome (DS) clearly show a higher risk of developing Alzheimer's disease (AD) when compared with the general population. Thus, it is important to investigate the role AD‐related biomarkers in adults with DS. H…
View article: Lewy body pathology in autosomal dominant and sporadic Alzheimer’s disease – neuropathological distribution patterns and associated survival and genetic findings
Lewy body pathology in autosomal dominant and sporadic Alzheimer’s disease – neuropathological distribution patterns and associated survival and genetic findings Open
Background Lewy body pathology (LBP) is common in autosomal dominant (ADAD) or sporadic Alzheimer disease (sAD). LBP seems to be the most frequent co‐pathology in sAD and even in the relatively young ADAD population, where other co‐patholo…
View article: Genome‐Wide Association Studies of Cognitive Progression in Alzheimer’s Disease
Genome‐Wide Association Studies of Cognitive Progression in Alzheimer’s Disease Open
Background Cognitive decline represents a significant and gradual clinical manifestation in individuals affected by Alzheimer’s disease (AD). Currently, there is a lack of effective treatments to delay its progression. Quantitative genome‐…
View article: Genetic analyses of the plasma proteome and metabolome from the same cohort pinpoint AD risk associated molecular phenotypes
Genetic analyses of the plasma proteome and metabolome from the same cohort pinpoint AD risk associated molecular phenotypes Open
Background The recent European‐ancestry based genome‐wide association study (GWAS) of Alzheimer disease (AD) by Bellenguez2022 has identified 75 significant genetic loci, but only a few have been functionally mapped to effector gene level.…
View article: Sex‐specific genetic regulation of proteomics in cerebrospinal fluid uncovers genetic causes for sex differences in neurodegeneration
Sex‐specific genetic regulation of proteomics in cerebrospinal fluid uncovers genetic causes for sex differences in neurodegeneration Open
Background Clear sex differences exist in AD and PD. Several studies examined genetic regulations for AD phenotypes and gene expression data in a sex‐specific manner, identifying some differences between males and females. In contrasts, al…
View article: Integration of GWAS and cerebrospinal fluid proteogenomics identifies proteins for AD and shared dysregulated mechanisms in other neurological traits
Integration of GWAS and cerebrospinal fluid proteogenomics identifies proteins for AD and shared dysregulated mechanisms in other neurological traits Open
Background Cerebrospinal fluid (CSF) is a valuable resource for the study and diagnosis of neurological diseases, but few studies have comprehensively characterized the genetic determinants of CSF protein levels that may contribute to the …
View article: Identification of genetic risk factors for brain amyloid deposition
Identification of genetic risk factors for brain amyloid deposition Open
Background Amyloid PET imaging is a promising biomarker to track the accumulation of parenchymal amyloid beta (Aβ) deposits in the brain. Recent large‐scale genome‐wide association studies (GWAS) reported common risk factors associated wit…
View article: Genome‐wide association of Amyloid imaging and plasma biomarkers in Adults with Down Syndrome
Genome‐wide association of Amyloid imaging and plasma biomarkers in Adults with Down Syndrome Open
Background Adults with Down Syndrome (DS) are at higher risk for Alzheimer's disease (AD) compared to the general population due to trisomy of chromosome 21. Thus, it is important to investigate the role AD‐related biomarkers in adults wit…
View article: Proteogenomic analysis of human cerebrospinal fluid identifies neurologically relevant regulation and implicates causal proteins for Alzheimer’s disease
Proteogenomic analysis of human cerebrospinal fluid identifies neurologically relevant regulation and implicates causal proteins for Alzheimer’s disease Open
View article: Polygenic proxies of age-related plasma protein levels reveal TIMP2 role in cognitive performance
Polygenic proxies of age-related plasma protein levels reveal TIMP2 role in cognitive performance Open
Background While numerous studies have identified blood proteins that modulate brain aging in mice, the direct translation of these findings to human health remains a substantial challenge. Bridging this gap is critical for developing inte…
View article: CSF proteomics identifies early changes in autosomal dominant Alzheimer’s disease
CSF proteomics identifies early changes in autosomal dominant Alzheimer’s disease Open
View article: A genetic and proteomic comparison of key AD biomarkers across tissues
A genetic and proteomic comparison of key AD biomarkers across tissues Open
INTRODUCTION Plasma has been proposed as an alternative to cerebrospinal fluid (CSF) for measuring Alzheimer's disease (AD) biomarkers, but no studies have analyzed in detail which biofluid is more informative for genetics studies of AD. M…
View article: Polygenic proxies of age-related plasma protein levels reveal TIMP2 role in cognitive performance
Polygenic proxies of age-related plasma protein levels reveal TIMP2 role in cognitive performance Open
Several studies have identified blood proteins that influence brain aging performance in mice, yet translating these findings to humans remains challenging. Here we found that higher predicted plasma levels of Tissue Inhibitor of Metallopr…
View article: European and African-specific plasma protein-QTL and metabolite-QTL analyses identify ancestry-specific T2D effector proteins and metabolites
European and African-specific plasma protein-QTL and metabolite-QTL analyses identify ancestry-specific T2D effector proteins and metabolites Open
View article: Genetic and multi-omic resources for Alzheimer disease and related dementia from the Knight Alzheimer Disease Research Center
Genetic and multi-omic resources for Alzheimer disease and related dementia from the Knight Alzheimer Disease Research Center Open
View article: Novel early-onset Alzheimer-associated genes influence risk through dysregulation of glutamate, immune activation, and intracell signaling pathways
Novel early-onset Alzheimer-associated genes influence risk through dysregulation of glutamate, immune activation, and intracell signaling pathways Open
Alzheimer Disease (AD) is a highly polygenic disease that presents with relatively earlier onset (≤70yo; EOAD) in about 5% of cases. Around 90% of these EOAD cases remain unexplained by pathogenic mutations. Using data from EOAD cases and …
View article: TOPMed imputed genomics enhances genomic atlas of the human proteome in brain, cerebrospinal fluid, and plasma
TOPMed imputed genomics enhances genomic atlas of the human proteome in brain, cerebrospinal fluid, and plasma Open
View article: Comprehensive proteomics of CSF, plasma, and urine identify DDC and other biomarkers of early Parkinson’s disease
Comprehensive proteomics of CSF, plasma, and urine identify DDC and other biomarkers of early Parkinson’s disease Open
Parkinson’s disease (PD) starts at the molecular and cellular level long before motor symptoms appear, yet there are no early-stage molecular biomarkers for diagnosis, prognosis prediction, or monitoring therapeutic response. This lack of …
View article: Systematic proteomics in Autosomal dominant Alzheimer’s disease reveals decades-early changes of CSF proteins in neuronal death, and immune pathways
Systematic proteomics in Autosomal dominant Alzheimer’s disease reveals decades-early changes of CSF proteins in neuronal death, and immune pathways Open
Background To date, there is no high throughput proteomic study in the context of Autosomal Dominant Alzheimer’s disease (ADAD). Here, we aimed to characterize early CSF proteome changes in ADAD and leverage them as potential biomarkers fo…
View article: Proteo-genomics of soluble TREM2 in cerebrospinal fluid provides novel insights and identifies novel modulators for Alzheimer’s disease
Proteo-genomics of soluble TREM2 in cerebrospinal fluid provides novel insights and identifies novel modulators for Alzheimer’s disease Open
View article: Genetic analyses of the plasma proteome and metabolome in the same cohort from participants with African and European ancestry identify ancestry‐specific AD risk associated molecular traits
Genetic analyses of the plasma proteome and metabolome in the same cohort from participants with African and European ancestry identify ancestry‐specific AD risk associated molecular traits Open
Background Alzheimer disease (AD) has different prevalence across different ancestries. However, the genetic factors underlying AD pathogenesis between diverse populations are largely unknown. The recent AD genome‐wide association study (G…
View article: Proteome Wide Association Studies of LRRK2 variants identify novel causal and druggable proteins for Parkinson’s disease
Proteome Wide Association Studies of LRRK2 variants identify novel causal and druggable proteins for Parkinson’s disease Open
Background Leucine‐rich repeat kinase 2 (LRRK2) common gene variants (tagged by rs76904798) are associated with Parkinson’s disease (PD) risk. In a previous study, we found that rs76904798 was associated with CSF GRN levels, but a comprehe…
View article: Proteo‐genomics of soluble TREM2 in cerebrospinal fluid provides novel insights for TREM2 biology and identifies novel modulators for Alzheimer’s disease
Proteo‐genomics of soluble TREM2 in cerebrospinal fluid provides novel insights for TREM2 biology and identifies novel modulators for Alzheimer’s disease Open
Background Triggering receptor expressed on myeloid cells 2 (TREM2) plays a critical role in microglial activation, survival, and apoptosis, as well as in Alzheimer’s disease (AD) pathogenesis. We previously reported the MS4A locus as a ke…
View article: Alzheimer’s polygenic risk score is associated with Dementia and memory phenotypes in Down syndrome
Alzheimer’s polygenic risk score is associated with Dementia and memory phenotypes in Down syndrome Open
Background Down syndrome (DS) is a complex neurological disorder manifested by triplication of chromosome 21, which includes the amyloid precursor protein ( APP ) gene. Triplication of APP which is known for the buildup of Amyloid Beta pla…
View article: Alzheimer's polygenic risk scores are associated with cognitive phenotypes in Down syndrome
Alzheimer's polygenic risk scores are associated with cognitive phenotypes in Down syndrome Open
INTRODUCTION This study aimed to investigate the influence of the overall Alzheimer's disease (AD) genetic architecture on Down syndrome (DS) status, cognitive measures, and cerebrospinal fluid (CSF) biomarkers. METHODS AD polygenic risk s…
View article: Multivariate GWAS of Alzheimer’s disease CSF biomarker profiles implies GRIN2D in synaptic functioning
Multivariate GWAS of Alzheimer’s disease CSF biomarker profiles implies GRIN2D in synaptic functioning Open
View article: Genomic atlas of the human proteome from brain, CSF and plasma: Improvement with TOPMed imputed genomics
Genomic atlas of the human proteome from brain, CSF and plasma: Improvement with TOPMed imputed genomics Open
Comprehensive expression quantitative trait loci (eQTL) studies have been instrumental for understanding tissue-specific gene regulation and pinpointing functional genes for disease-associated GWAS loci in a tissue-specific manner. Compare…
View article: Genomic atlas of the human proteome from brain, CSF and plasma: Improvement with TOPMed imputed genomics
Genomic atlas of the human proteome from brain, CSF and plasma: Improvement with TOPMed imputed genomics Open
Comprehensive expression quantitative trait loci (eQTL) studies have been instrumental for understanding tissue-specific gene regulation and pinpointing functional genes for disease-associated GWAS loci in a tissue-specific manner. Compare…