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

Genetically determined partial complement C4 deficiency states are not independent risk factors for SLE in UK and Spanish populations.

American journal of human genetics - 9 Mar 2012

Boteva Lora, Morris David L, Cortés-Hernández Josefina, Martin Javier, Vyse Timothy J, Fernando Michelle M A

Abstract excerpt

Systemic lupus erythematosus (SLE) is a chronic, multisystem autoimmune disease. Complete deficiency of complement component C4 confers strong genetic risk for SLE. Partial C4 deficiency states have also shown association with SLE, but despite much effort over the last 30 years, it has not been established whether this association is primarily causal or secondary to long-range linkage disequilibrium. The...

Read the complete abstract on PubMed

Topics

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

Share to Complement C4a
Share to Complement C4b

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Gene Dosage

Share to HLA-DRB1 Chains

Share to Lupus Erythematosus, Systemic

Share to Major Histocompatibility Complex

Share to United Kingdom

Source

Open in PubMed Open full text

Identifiers

PMID: 22387014
DOI: 10.1016/j.ajhg.2012.01.012
PMCID: PMC3309188

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetically determined partial complement C4 deficiency states are not independent risk factors for SLE in UK and Spanish populations.PMID 22387014Read ↗

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 ↗

Effects of Complement <i>C4</i> Gene Copy Number Variations, Size Dichotomy, and <i>C4A</i> Deficiency on Genetic Risk and Clinical Presentation of Systemic Lupus Erythematosus in East Asian PopulationsSemantic 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 ↗

Strong Association of Combined Genetic Deficiencies in the Classical Complement Pathway With Risk of Systemic Lupus Erythematosus and Primary Sjögren's SyndromeSemantic 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 ↗

Assessing association of common variation in the C1Q gene cluster with systemic lupus erythematosus.Semantic proximity Read ↗

The intricate role of complement component C4 in human systemic lupus erythematosus.Semantic proximity Read ↗

Complement component C4 structural variation and quantitative traits contribute to sex-biased vulnerability in systemic sclerosisSemantic proximity Read ↗

Deficiency of C4A is a genetic determinant of systemic lupus erythematosus in three ethnic groups.Semantic proximity Read ↗

Low C4, C4A and C4B gene copy numbers are stronger risk factors for juvenile-onset than for adult-onset systemic lupus erythematosus.Semantic proximity Read ↗

Low C4A copy numbers and higher HERV gene insertion contributes to increased risk of SLE, with absence of association with disease phenotype and disease activity.Semantic proximity Read ↗

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

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