ArticleGenes and immunity2009
The heritability and genetics of complement C3 expression in UK SLE families.
Article in Genes and immunity, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed.
- Comprehensive analysis of IRF8-related genes and immune characteristics in lupus nephritis.Frontiers in pharmacology · 2024Article
- Medical Records-Based Genetic Studies of the Complement System.Journal of the American Society of Nephrology : JASN · 2021Article
- Common variants of fetal and maternal complement genes in preeclampsia: pregnancy specific complotype.Scientific reports · 2020Article
- Complement C3 gene polymorphisms are associated with lipid levels, but not the risk of coronary artery disease: a case-control study.Lipids in health and disease · 2019Article
- The role of the alternative pathway of complement activation in glomerular diseases.Clinical and experimental medicine · 2018Review
- Complement 3 and metabolic syndrome induced by clozapine: a cross-sectional study and retrospective cohort analysis.The pharmacogenomics journal · 2017Article
- Association of Complement C5 Gene Polymorphisms with Proliferative Diabetic Retinopathy of Type 2 Diabetes in a Chinese Han Population.PloS one · 2016Article
- Copy number variations and gene polymorphisms of complement components in ocular Behcet's disease and Vogt-Koyanagi-Harada syndrome.Scientific reports · 2015Article
- Article
- Genome-wide association study for serum complement C3 and C4 levels in healthy Chinese subjects.PLoS genetics · 2012Article
- Association of genetic variants in complement factor H and factor H-related genes with systemic lupus erythematosus susceptibility.PLoS genetics · 2011Article
Corrections and comments
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Authors and funding
8 authors.
Funding
Abstract
As the central component of the complement system, C3 has sensory and effector functions bridging innate and adaptive immunity. It is plausible that common genetic variation at C3 determines either serum C3 level or susceptibility to systemic lupus erythematosus (SLE), but only a single, Japanese, study has currently showed genetic association. In a cohort of 1371 individuals from 393 UK white European SLE families, we quantified serum C3 and genotyped C3 tagSNPs. Using a Bayesian variance components model, we estimated 39.6% serum C3 heritability. Genotype/serum C3 association was determined by mixed linear models. Single nucleotide polymorphism (SNP) rs344555, located in a haplotype block incorporating the 3' end of C3, was associated with serum C3 (P=0.007), with weaker associations observed for other SNPs in this block. In an extended cohort of 585 SLE families the association between C3 variants and SLE was assessed by transmission disequilibrium test. SNP rs3745568 was associated with SLE (P=0.0046), but not with serum C3. Our disease associated SNP differs from that highlighted in the Japanese study; however, we replicate their finding that genetic variants at the 3' end of C3 are associated with serum C3. Larger studies and further fine mapping will be required to definitively identify functional variants.
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