Copy Number Variation of the Beta-Defensin Genes in Europeans: No Supporting Evidence for Association with Lung Function, Chronic Obstructive Pulmonary Disease or Asthma

Wain, Louise V.; Odenthal-Hesse, Linda; Abujaber, Razan; Sayers, Ian; Beardsmore, Caroline; Gaillard, Erol A.; Chappell, Sally; Dogaru, Cristian M.; McKeever, Tricia M.; Guetta-Baranes, Tamar; Kalsheker, Noor; Kuehni, Claudia E.; Hall, Ian P.; Tobin, Martin D.; Hollox, Edward J.

doi:10.1371/journal.pone.0084192

Upregulated expression of FFAR2 and SOC3 genes is associated with gout (2022)
Journal Article

Objective To examine the expression of Free fatty acid receptor 2 (FFAR2) and Suppressor of cytokine signalling 3 (SOCS3) genes in asymptomatic hyperuricaemia (AH), AH with MSU crystal deposition, inter-critical gout and gout flare. Methods Study... Read More about Upregulated expression of FFAR2 and SOC3 genes is associated with gout.

Genetic variants in glutamate-, A??, and tau-related pathways determine polygenic risk for Alzheimer's disease (2020)
Journal Article

© 2020 Elsevier Inc. Synapse loss is an early event in late-onset Alzheimer's disease (LOAD). In this study, we have assessed the capacity of a polygenic risk score (PRS) restricted to synapse-encoding loci to predict LOAD. We used summary statistics... Read More about Genetic variants in glutamate-, A??, and tau-related pathways determine polygenic risk for Alzheimer's disease.

Genetic variability in response to amyloid beta deposition influences Alzheimer’s disease risk (2019)
Journal Article

Genome-wide association studies of late-onset Alzheimer’s disease risk have previously identified genes primarily expressed in microglia that form a transcriptional network. Using transgenic mouse models of amyloid deposition, we previously showed th... Read More about Genetic variability in response to amyloid beta deposition influences Alzheimer’s disease risk.

Observations of extensive gene expression differences in the cerebellum and potential relevance to Alzheimer’s disease (2018)
Journal Article

Objectives In order to determine how gene expression is altered in disease it is of fundamental importance that the global distribution of gene expression levels across the disease-free brain are understood and how differences between tissue types... Read More about Observations of extensive gene expression differences in the cerebellum and potential relevance to Alzheimer’s disease.

Genotyping of the Alzheimer’s disease Genome-Wide Association Study index single nucleotide polymorphisms in the Brains for Dementia research cohort (2018)
Journal Article

The Brains for Dementia Research project is a recently established cohort which aims to provide brain tissue for research purposes from neuropathologically defined samples. Here we present the findings from our analysis on the 19 established GWAS in... Read More about Genotyping of the Alzheimer’s disease Genome-Wide Association Study index single nucleotide polymorphisms in the Brains for Dementia research cohort.

Complement receptor 1 gene (CR1) intragenic duplication and risk of Alzheimer’s disease (2018)
Journal Article

Single nucleotide variants (SNVs) within and surrounding the complement receptor 1 (CR1) gene show some of the strongest genome-wide association signals with late-onset Alzheimer’s disease. Some studies have suggested that this association signal is... Read More about Complement receptor 1 gene (CR1) intragenic duplication and risk of Alzheimer’s disease.

Whole-exome sequencing of the BDR cohort: evidence to support the role of the PILRA gene in Alzheimer’s disease (2017)
Journal Article

Aim: Late-onset Alzheimer’s disease (LOAD) accounts for 95% of all Alzheimer’s cases and is genetically complex in nature. Overlapping clinical and neuropathological features between AD, FTD and Parkinson’s disease highlight the potential role of gen... Read More about Whole-exome sequencing of the BDR cohort: evidence to support the role of the PILRA gene in Alzheimer’s disease.

Polygenic risk score in postmortem diagnosed sporadic early-onset Alzheimer’s disease (2017)
Journal Article

Sporadic early onset Alzheimer’s disease (sEOAD) exhibits the symptoms of late onset Alzheimer’s disease (LOAD) but lacks the familial aspect of the early onset familial form. The genetics of Alzheimer’s disease (AD) identifies APOEε4 to be the great... Read More about Polygenic risk score in postmortem diagnosed sporadic early-onset Alzheimer’s disease.

Methylation profiling RIN3 and MEF2C identifies epigenetic marks associated with sporadic early onset Alzheimer’s disease (2017)
Journal Article

A number of genetic loci associate with early onset Alzheimer’s disease (EOAD), however the drivers of this disease remains enigmatic. Genome wide association and in-vivo modelling have shown that loss-of-function e.g. ABCA7, reduced levels of SIRT1,... Read More about Methylation profiling RIN3 and MEF2C identifies epigenetic marks associated with sporadic early onset Alzheimer’s disease.

Investigating splicing variants uncovered by next-generation sequencing the Alzheimer’s disease candidate genes, CLU, PICALM, CR1, ABCA7, BIN1, the MS4A locus, CD2AP, EPHA1 and CD33 (2016)
Journal Article

Late onset Alzheimer’s disease (LOAD), the most common cause of late onset dementia, has a strong genetic component. To date, 21 disease-risk loci have been identified through genome wide association studies (GWAS). However, the causative functional... Read More about Investigating splicing variants uncovered by next-generation sequencing the Alzheimer’s disease candidate genes, CLU, PICALM, CR1, ABCA7, BIN1, the MS4A locus, CD2AP, EPHA1 and CD33.

Mutation analysis of sporadic early-onset Alzheimer's disease using the NeuroX array (2016)
Journal Article

We have screened sporadic early-onset Alzheimer’s disease (sEOAD, n=408) samples using the NeuroX array for known causative and predicted pathogenic variants in 16 genes linked to familial forms of neurodegeneration. We found two sEOAD individuals ha... Read More about Mutation analysis of sporadic early-onset Alzheimer's disease using the NeuroX array.

Exome-wide analysis of rare coding variation identifies novel associations with COPD and airflow limitation in MOCS3, IFIT3 and SERPINA12 (2016)
Journal Article

Background Several regions of the genome have shown to be associated with COPD in genome-wide association studies of common variants. Objective To determine rare and potentially functional single nucleotide polymorphisms (SNPs) associated... Read More about Exome-wide analysis of rare coding variation identifies novel associations with COPD and airflow limitation in MOCS3, IFIT3 and SERPINA12.

Screening exons 16 and 17 of the amyloid precursor protein gene in sporadic early-onset Alzheimer’s disease (2015)
Journal Article

Early-onset Alzheimer’s disease (EOAD) can be familial (FAD) or sporadic (sEOAD); both have a disease onset ≤ 65 years of age. 451 sEOAD samples were screened for known causative mutations in exon 16 and 17 of the Amyloid Precursor Protein gene (APP)... Read More about Screening exons 16 and 17 of the amyloid precursor protein gene in sporadic early-onset Alzheimer’s disease.

Copy Number Variation of the Beta-Defensin Genes in Europeans: No Supporting Evidence for Association with Lung Function, Chronic Obstructive Pulmonary Disease or Asthma (2014)
Journal Article

Lung function measures are heritable, predict mortality and are relevant in diagnosis of chronic obstructive pulmonary disease (COPD). COPD and asthma are diseases of the airways with major public health impacts and each have a heritable component. G... Read More about Copy Number Variation of the Beta-Defensin Genes in Europeans: No Supporting Evidence for Association with Lung Function, Chronic Obstructive Pulmonary Disease or Asthma.

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