Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Correlating multiallelic copy number polymorphisms with disease susceptibility.

Human mutation - 1 Jan 2013

Cantsilieris Stuart, White Stefan J

Abstract excerpt

The human genome contains a significant amount of sequence variation, from single nucleotide polymorphisms to large stretches of DNA that may be present in a range of different copies between individuals. Several such regions are variable in >1% of the population (referred to as copy number polymorphisms or CNPs), and many studies have looked for associations between the copy number of genes within multiallelic...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to beta-Defensins
Share to Chemokine CCL3
Share to Complement C4

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Copy Number Variations

Share to Genetic Predisposition to Disease

Share to Genotyping Techniques

Share to GPI-Linked Proteins

Share to Receptors, IgG

Source

Identifiers

PMID: 22837109
DOI: 10.1002/humu.22172

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Correlating multiallelic copy number polymorphisms with disease susceptibility.PMID 22837109Read ↗

Copy number variation of Fc gamma receptor genes and disease predisposition.Semantic proximity Read ↗

Copy number variation in autoimmunity--importance hidden in complexity?Semantic proximity Read ↗

Gene copy-number variation and associated polymorphisms of complement component C4 in human systemic lupus erythematosus (SLE): low copy number is a risk factor for and high copy number is a protective factor against SLE susceptibility in European Americans.Semantic proximity Read ↗

Accuracy and differential bias in copy number measurement of CCL3L1 in association studies with three auto-immune disorders.Semantic proximity Read ↗

Accurate measurement of gene copy number for human alpha-defensin DEFA1A3.Semantic proximity Read ↗

Copy number variants in genetic susceptibility and severity of systemic lupus erythematosus.Semantic proximity Read ↗

Phenotypes, genotypes and disease susceptibility associated with gene copy number variations: complement C4 CNVs in European American healthy subjects and those with systemic lupus erythematosus.Semantic proximity Read ↗

Clinical implications of copy number variations in autoimmune disorders.Semantic proximity Read ↗

Copy number variation of beta-defensins and relevance to disease.Semantic proximity Read ↗

C4A copy number is associated with autoimmune disease.Semantic proximity Read ↗

Genome-Wide Copy Number Variation Scan Identifies Complement Component C4 as Novel Susceptibility Gene for Crohn's Disease.Semantic proximity Read ↗

Low copy numbers of complement C4 and homozygous deficiency of C4A may predispose to severe disease and earlier disease onset in patients with systemic lupus erythematosus.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.