ArticleHuman mutation2010
Assessment of complement C4 gene copy number using the paralog ratio test.
Article in Human mutation, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 29 citations in OpenAlex.
- Across ancestries, HLA-B∗08:01∼DRB1∗03:01 (DR3) and HLA-DQA∗01:02 (DR2) increase the risk to develop juvenile-onset systemic lupus erythematosus through low complement C4 levels.Journal of translational autoimmunity · 2025Article
- 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.Immunologic research · 2024Article
- Article
- Major histocompatibility complex (MHC) associations with diseases in ethnic groups of the Arabian Peninsula.Immunogenetics · 2021Review
- Complement C4 Gene Copy Number Variation Genotyping by High Resolution Melting PCR.International journal of molecular sciences · 2020Article
- The complement system: a gateway to gene-environment interactions in schizophrenia pathogenesis.Molecular psychiatry · 2017Review
- CBF2A-CBF4B genomic region copy numbers alongside the circadian clock play key regulatory mechanisms driving expression of FR-H2 CBFs.Plant molecular biology · 2017Article
- Multiallelic copy number variation in the complement component 4A (C4A) gene is associated with late-stage age-related macular degeneration (AMD).Journal of neuroinflammation · 2016Article
- Article
- Rapid and accurate large-scale genotyping of duplicated genes and discovery of interlocus gene conversions.Nature methods · 2013Article
- The utility of copy number variation (CNV) in studies of hypertension-related left ventricular hypertrophy (LVH): rationale, potential and challenges.Molecular cytogenetics · 2013Article
- Intraspecific evolution of human RCCX copy number variation traced by haplotypes of the CYP21A2 gene.Genome biology and evolution · 2013Article
- Structural haplotypes and recent evolution of the human 17q21.31 region.Nature genetics · 2012Article
- Increased frequency of complement C4B deficiency in rheumatoid arthritis.Arthritis and rheumatism · 2012Article
- Genetically determined partial complement C4 deficiency states are not independent risk factors for SLE in UK and Spanish populations.American journal of human genetics · 2012Article
- Copy number analysis of complement C4A, C4B and C4A silencing mutation by real-time quantitative polymerase chain reaction.PloS one · 2012Article
- Article
Corrections and comments
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Authors and funding
10 authors at 5 institutions in 4 countries.
Funding
Abstract
The complement C4 locus is in the class III region of the MHC, and exhibits copy number variation. Complement C4 null alleles have shown association with a number of diseases including systemic lupus erythematosus (SLE). However, most studies to date have used protein immunophenotyping and not direct interrogation of the genome to determine C4 null allele status. Moreover, a lack of accurate C4 gene copy number (GCN) estimation and tight linkage disequilibrium across the disease-associated MHC haplotypes has confounded attempts to establish whether or not these associations are causal. We have therefore developed a high throughput paralog ratio test (PRT) in association with two restriction enzyme digest variant ratio tests (REDVRs) to determine total C4 GCN, C4A GCN, and C4B GCN. In the densely genotyped CEU cohort we show that this method is accurate and reproducible when compared to gold standard Southern blot copy number estimation with a discrepancy rate of 9%. We find a broad range of C4 GCNs in the CEU and the 1958 British Birth Cohort populations under study. In addition, SNP-C4 CNV analyses show only moderate levels of correlation and therefore do not support the use of SNP genotypes as proxies for complement C4 GCN.
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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.