Imunochip Coeliac disease case & control samples (exl 1958BC) - samples
Ontology highlight
ABSTRACT:
PROVIDER: EGAD00010000246 | EGA |
REPOSITORIES: EGA
Similar Datasets
Project description:Genome wide DNA methylation profiling in saliva samples from individuals with and without coeliac disease. The Illumina Infinium 450k Human DNA methylation BeadChip was used to obtain DNA methylation profiles across approximately 485,500 CpGs. The study investigated DNA methylation profiles associated with CD.
2019-12-31 | GSE119078 | GEO
Project description:Illumina Immunochip genotype data for coeliac disease and control samples of North Indian samples origin. Data is in PLINK binary format. Calling algorithm for genotypes is based on GenomeStudio (GenTrain), with manual clustering of selected variants.
| EGAS00001000849 | EGA
Project description:Background: The molecular pathogenesis of small intestinal adenocarcinomas (SBA) is not well understood. Defining its molecular pathogenesis may lead us to better clinical interventions. Aim: to identify the molecular changes characteristic of SBA. Methods: Forty-eight SBA (thirty-three non coeliac disease (CD)-related and 15 CD-related) were characterized for chromosomal aberrations, by high resolution array comparative hybridization (aCGH), microsatellite status (MSI) and APC promoter methylation and mutation status. Furthermore, molecular alterations found in CD-related SBA were compared to non-CD related SBA. Results: Chromosomal changes were observed in 77% of the SBA. The most frequently (>10%) DNA copy number changes found were gains on 5p15.33-5p12, 7p22.3-7q11.21, 7q21.2-7q21.3, 7q22.1-7q34, 7q36.1, 7q36.3, 8q11.21-8q24.3, 9q34.11-9q34.3, 13q11-13q34, 16p13.3, 16p11.2, 19q13.2 and 20p13-20q13.33 and losses of 4p13-4q35.2, 5q15-5q21.1 and 21p11.2-21q22.11. Seven highly amplified regions on 6p21.1, 7q21.1, 8p23.1, 11p13, 16p11.2, 17q12-q21.1 and 19q13.2 were also identified. CD-related and non CD-related SBA displayed similar chromosomal aberrations. Promoter hypermethylation of the APC gene was found in 48% non CD-related and 73% CD-related SBA. No nonsense mutations were found. Last, 10% of the non CD-related SBA were MSI, whereas 43% of the CD-related SBA were MSI. Conclusions: Our study characterized specific chromosomal aberrations and amplifications involved in SBA pathogenesis. At the chromosomal level, CD-related and non CD-related SBA do not differ. The involvement of the MMR system in the pathogenesis of the CD-related SBA was larger than what has been observed in no CD-related SBA. No nonsense mutations were found in SBA, but frequent promoter methylation in CD-related SBA. Forty-eight SBA (thirty-three non coeliac disease (CD)-related and 15 CD-related) were characterized for chromosomal aberrations against a Human pool, by high resolution array comparative hybridization (aCGH),
2009-10-07 | E-GEOD-15470 | biostudies-arrayexpress
Project description:Illumina Immunochip genotype data for coeliac disease and control samples. Data is in PLINK binary format. Calling algorithm for genotypes is based on GenomeStudio (GenTrain), with manual clustering of selected variants (please see published manuscript). Genotypes called in this way may not be exactly identical to those generated by other algorithms - this is particularly relevant for groups wishing to utilise the control data (e.g. 1958 Birth Cohort). Please contact the investigators if you wish to discuss access to other data formats (e.g. .idat).
| EGAS00000000053 | EGA
Project description:Transcriptomic heterogeneity of Coeliac Disease biopsies from the duodenum
| PRJNA692367 | ENA
Project description:Background: In coeliac disease (CoD), the role of B cells has mainly been considered to be production of antibodies. The functional role of B cells has not been analysed extensively in CoD. Methods: We conducted a study to characterize gene expression in B cells from children developing CoD early in life using samples collected before and at the diagnosis of the disease. Blood samples were collected from children at risk at 12, 18, 24 and 36 months of age. RNA from peripheral blood CD19+ cells was sequenced and differential gene expression was analysed using R package Limma. Findings: Overall, we found one gene, HNRNPL, modestly downregulated in all patients (logFC -0·7; q=0·09), and several others downregulated in those diagnosed with CoD already by the age of 2 years. Interpretation: The data highlight the role of B-cells in CoD development. The role of HNRPL in suppressing enteroviral replication suggests that the predisposing factor for both CoD and enteroviral infections is the low level of HNRNPL expression.
2023-02-01 | GSE185503 | GEO
Project description:The purpose of this study was to improve prediction of patients at high-risk for metastatic disease utilizing a nested case-control design that uniquely enables enrichment for relevant phenotypes. We identified all women diagnosed with primary breast cancer from January 1, 1997, to December 31, 2005, in the Stockholm health care region. Patients developing distant metastatic disease (cases) were selected and controls (free from distant disease) were randomly matched by adjuvant therapy, age and calendar period at diagnosis. The nested case-control study included 768 study subjects with clinical information and gene expression arrays (Human Cancer G110). Study subjects were randomly and equally divided into training set (discovery) or testing (validation) set. Metastatic onset prediction was then compared including either clinical variables only or combining clinical and genetic information. Differentially expressed genes and pathways between cases and controls included a wide-spectrum of well known as well as candidate regulators of the metastatic cascade. The nested case-control study included 768 study subjects corresponding to 623 primary tumor samples. Details concerning case-control status are given in the samples section. Each case and its' matching controls form risk sets, indicated by the setnr variable.
2014-11-03 | E-GEOD-48091 | biostudies-arrayexpress
Project description:Here, we present a high-resolution analysis of the transcriptomes extracted from duodenal probes of 25 children and adolescents with active CD and 21 children without CD but with diverse intestinal afflictions as controls. We found that the transcriptomes of CD patients divide into three subgroups, a mixed group resembling part of control cases and a CD-low and CD-high groups referring to lower and higher levels of CD severity Despite generally increased inflammation, considerable variation in inflammation-level between subgroups was observed, which was further de-chiffred into immune cell types using immune cell de-convolution
2021-03-24 | GSE164883 | GEO
Project description:Genome-wide methylation profiles in coeliac disease and healthy controls
| PRJNA488062 | ENA
Project description:BackgroundThe intestinal microbiota has been proposed to play a pathogenic role in coeliac disease (CD). Although antibiotics are common environmental factors with a profound impact on intestinal microbiota, data on antibiotic use as a risk factor for subsequent CD development are scarce.MethodsIn this population-based case-control study we linked nationwide histopathology data on 2,933 individuals with CD (Marsh stage 3; villous atrophy) to the Swedish Prescribed Drug Register to examine the association between use of systemic antibiotics and subsequent CD. We also examined the association between antibiotic use in 2,118 individuals with inflammation (Marsh 1-2) and in 620 individuals with normal mucosa (Marsh 0) but positive CD serology. All individuals undergoing biopsy were matched for age and sex with 28,262 controls from the population.ResultsAntibiotic use was associated with CD (Odds ratio [OR]?=?1.40; 95% confidence interval [CI]?=?1.27-1.53), inflammation (OR?=?1.90; 95% CI?=?1.72-2.10) and normal mucosa with positive CD serology (OR?=?1.58; 95% CI?=?1.30-1.92). ORs for prior antibiotic use in CD were similar when we excluded antibiotic use in the last year (OR?=?1.30; 95% CI?=?1.08-1.56) or restricted to individuals without comorbidity (OR?=?1.30; 95% CI?=?1.16 - 1.46).ConclusionsThe positive association between antibiotic use and subsequent CD but also with lesions that may represent early CD suggests that intestinal dysbiosis may play a role in the pathogenesis of CD. However, non-causal explanations for this positive association cannot be excluded.
| S-EPMC3720284 | biostudies-literature