2019年8月6日 · This study aimed to associate C4A, C4B and total C4 GCN and SLE, focusing on the clinical phenotype and disease progression. C4, C4A and C4B GCN were determined by real-time PCR in 427 SLE patients and 301 healthy controls, which underwent a detailed clinical evaluation according to a pre-established protocol.

2017年12月1日 · Genetic variation of the genes encoding complement component C4 is strongly associated with systemic lupus erythematosus (SLE), a chronic multi-organ auto-immune disease. This study examined C4 and its isotypes on a genetic, protein, and functional level in 140 SLE patients and 104 healthy controls.

2022年10月5日 · We investigated the association of C4 CN with systemic sclerosis (SSc) risk. Imputed total C4, C4A, C4B, and HERV-K CN were analyzed in 26,633 individuals and validated in an independent cohort....

2020年11月3日 · Systemic lupus erythematosus (SLE) is a severe autoimmune disease mediated by pathogenic autoantibodies. While complement protein C4 is associated with SLE, its isoforms (C4A and C4B) are not equal in their impact. Despite being 99% homologous, genetic studies identified C4A as more protective than C4B.

Human complement C4 is sophisticatedly complex with multiple layers of diversity. This study aims to elucidate the CNVs of C4A and C4B in disease risk of SLE, and compare the basis of race-specific C4A -deficiency in East-Asians (EA) and Europeans. Our EA study-population included 999 SLE patients and 1,347 healthy subjects.

Complete deficiencies of complement components C4A and C4B, albeit rare in human populations, are among the strongest genetic risk factors for SLE or lupus-like disease, across HLA haplotypes and racial backgrounds.

2017年2月16日 · We summarized current knowledge related to the role of C4, C4A, and C4B CNVs in SLE and other systemic autoimmune diseases and determined whether C4 genes are a genetic master key to...

2020年11月3日 · The higher efficiency of C4A in inducing self-antigen clearance is associated with the follicular exclusion of autoreactive B cells. These results explain how the C4A isoform is protective in lupus and suggest C4A as a possible replacement therapy in lupus.

2007年4月26日 · Low C4A GCN in Female European Americans with SLE. The reduction of C4 GCN in patients with SLE can be the result of a decrease in C4A, C4B, or both. Therefore, we examined the distribution patterns of C4A and C4B among the female patients, first-degree relatives, and unrelated controls (figs. (figs.3B 3B and and3C 3C).

The aims of this study were to elucidate the copy number variations (CNVs) of C4A and C4B in relation to disease risk in systemic lupus erythematosus (SLE), and to compare the basis of race-specific C4A deficiency between East Asians and individuals of European descent.