SynthesisHuman molecular genetics2014
Fine mapping of the celiac disease-associated LPP locus reveals a potential functional variant.
Synthesis in Human molecular genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
22 citing papers in PubMed, 35 citations in OpenAlex.
- Pediatric Celiac Disease Patients Show Alterations of Dendritic Cell Shape and Actin Rearrangement.International journal of molecular sciences · 2021Trial
- From gluten to therapeutics: molecular mechanisms of celiac disease and emerging alternatives to the gluten-free diet.Frontiers in pharmacology · 2026Review
- Association ofGenes · 2024Article
- Multiple Allergic Rhinitis Single Nucleotide Polymorphism Variants are Associated with Sleep-Breathing Parameters in Men with Obstructive Sleep Apnea: A Large-Scale Study.Nature and science of sleep · 2024Article
- rs77283072 influences breast cancer susceptibility by regulatingOncology letters · 2023Article
- Article
- Article
- Article
- The genetics of autoimmune Addison disease: past, present and future.Nature reviews. Endocrinology · 2022Review
- Combination of HLA-DQ2/-DQ8 Haplotypes and a Single MSH5 Gene Variant in a Polish Population of Patients with Type 1 Diabetes as a First Line Screening for Celiac Disease?Journal of clinical medicine · 2022Article
- Micronutrient Improvement of Epithelial Barrier Function in Various Disease States: A Case for Adjuvant Therapy.International journal of molecular sciences · 2022Review
- Integrated single-cell transcriptomics and epigenomics reveals strong germinal center-associated etiology of autoimmune risk loci.Science immunology · 2021Article
- Corrigendum: Inflammatory and Microbiota-Related Regulation of the Intestinal Epithelial Barrier.Frontiers in nutrition · 2021Article
- Inflammatory and Microbiota-Related Regulation of the Intestinal Epithelial Barrier.Frontiers in nutrition · 2021Review
- Celiac Disease: Against the Grain in Gastroenterology.Journal of the Canadian Association of Gastroenterology · 2019Article
- Intestinal Barrier Function in Gluten-Related Disorders.Nutrients · 2019Review
- Applications of the 1000 Genomes Project resources.Briefings in functional genomics · 2017Article
- Refined mapping of autoimmune disease associated genetic variants with gene expression suggests an important role for non-coding RNAs.Journal of autoimmunity · 2016Article
- Expression analysis in intestinal mucosa reveals complex relations among genes under the association peaks in celiac disease.European journal of human genetics : EJHG · 2015Article
- Genotype harmonizer: automatic strand alignment and format conversion for genotype data integration.BMC research notes · 2014Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
25 authors at 12 institutions in 6 countries.
Funding
Abstract
Using the Immunochip for genotyping, we identified 39 non-human leukocyte antigen (non-HLA) loci associated to celiac disease (CeD), an immune-mediated disease with a worldwide frequency of ∼1%. The most significant non-HLA signal mapped to the intronic region of 70 kb in the LPP gene. Our aim was to fine map and identify possible functional variants in the LPP locus. We performed a meta-analysis in a cohort of 25 169 individuals from six different populations previously genotyped using Immunochip. Imputation using data from the Genome of the Netherlands and 1000 Genomes projects, followed by meta-analysis, confirmed the strong association signal on the LPP locus (rs2030519, P = 1.79 × 10(-49)), without any novel associations. The conditional analysis on this top SNP-indicated association to a single common haplotype. By performing haplotype analyses in each population separately, as well as in a combined group of the four populations that reach the significant threshold after correction (P < 0.008), we narrowed down the CeD-associated region from 70 to 2.8 kb (P = 1.35 × 10(-44)). By intersecting regulatory data from the ENCODE project, we found a functional SNP, rs4686484 (P = 3.12 × 10(-49)), that maps to several B-cell enhancer elements and a highly conserved region. This SNP was also predicted to change the binding motif of the transcription factors IRF4, IRF11, Nkx2.7 and Nkx2.9, suggesting its role in transcriptional regulation. We later found significantly low levels of LPP mRNA in CeD biopsies compared with controls, thus our results suggest that rs4686484 is the functional variant in this locus, while LPP expression is decreased in CeD.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.