Complement components 2 and 7 (C2 and C7) gene polymorphisms are not major risk factors for SLE susceptibility in the Malaysian population

Lian, Lay-Hoong; Ching, Ai-Sze; Chong, Zheng-Yi; Chua, Kek Heng

doi:10.1007/s00296-011-2070-0

Cited by 6 publications

(5 citation statements)

References 22 publications

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“…In the C2 gene, a 28 bp deletion is commonly associated with SLE in Caucasians,25 but not in a small Malaysian population 26. C4 is expressed in two isoforms C4A and C4B.…”

Section: Genetic Associationsmentioning

confidence: 99%

The complement system in systemic lupus erythematosus: an update

2014

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The complement system plays a major role in the autoimmune disease, systemic lupus erythematosus (SLE). However, the role of complement in SLE is complex since it may both prevent and exacerbate the disease. In this review, we explore the latest findings in complement-focused research in SLE. C1q deficiency is the strongest genetic risk factor for SLE, although such deficiency is very rare. Various recently discovered genetic associations include mutations in the complement receptors 2 and 3 as well as complement inhibitors, the latter related to earlier onset of nephritis. Further, autoantibodies are a distinct feature of SLE that are produced as the result of an adaptive immune response and how complement can affect that response is also being reviewed. SLE generates numerous disease manifestations involving contributions from complement such as glomerulonephritis and the increased risk of thrombosis. Furthermore, since most of the complement system is present in plasma, complement is very accessible and may be suitable as biomarker for diagnosis or monitoring of disease activity. This review highlights the many roles of complement for SLE pathogenesis and how research has progressed during recent years.

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“…In the C2 gene, a 28 bp deletion is commonly associated with SLE in Caucasians,25 but not in a small Malaysian population 26. C4 is expressed in two isoforms C4A and C4B.…”

Section: Genetic Associationsmentioning

confidence: 99%

The complement system in systemic lupus erythematosus: an update

2014

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“…Homozygous type 1 C2D is the most commonly inherited defect of complement deficiencies, estimated to be around 1/20,000 among the Western Caucasian population . However, a prevalence study did not show a significant association of type 1 C2D with SLE in Swedish patients , some studies also revealed type 1 C2D was not found in African‐American patients and Asian patients . There is no consistent evidence regarding the predisposition of C2D in different ethnic populations; it appears type 1 C2D might not be a universal factor for SLE susceptibility.…”

Section: Introductionmentioning

confidence: 99%

Genetic association of complement component 2 polymorphism with systemic lupus erythematosus

et al. 2015

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Complement component 2 (C2), an early member of the classical pathway, mainly participates in apoptotic cell clearance. We hypothesize that C2 polymorphism may confer genetic susceptibility to complement dysfunction in systemic lupus erythematosus (SLE). The major aim of our study was to investigate the clinical and serological associations of C2 variants in Chinese patients with SLE. The single-nucleotide polymorphism (rs2844455, G/A SNP) located in the intron region of C2 gene was genotyped by direct sequencing in 95 SLE patients and 95 matched normal control subjects. The gene expression profiles were generated by quantitative real-time polymerase chain reaction (PCR) and reverse transcription PCR. Our results showed that the AA genotype was observed more frequently in SLE patients than in normal control subjects (22.1% vs 9.5%, P < 0.05). The A allele was strongly associated with the occurrence of hair loss, photosensitivity and anti-cardiolipin antibodies; whereas, the G allele was associated with lower frequencies of these clinical presentations. Relative expression levels were significantly lower in patients with the AA genotype [median: 18.86, interquartile range (IQR) 11.36-22.43, P = 0.002] than in those with the GG genotype (35.76, IQR: 19.33-49.71). As expected, we confirmed the A allele as a risk factor for SLE development in a Chinese population, in contrast, the G allele might be a protective factor against the pathogenic autoantibody formation and cutaneous manifestations in SLE patients.

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“…C2 deficiency is the most common complement deficiency worldwide and characterized by recurrent infections in early childhood 10 . Autoimmune disorders, particularly SLE were reported with C2 deficiency, but less frequently than the deficiencies of other early complement components 25,27 . Additionally, C2 gene polymorphisms were previously investigated in SLE and did reveal convincing results 9,27 .…”

Section: Discussionmentioning

confidence: 99%

Complement C2 polymorphisms in children with Henoch Schönlein purpura

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et al. 2020

Cukurova Medical Journal

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Öz Purpose: The aim of this study was to investigate whether C2 polymorphisms influence the symptoms and disease outcomes in children with Henoch Schönlein purpura (HSP). Materials and Methods: This cross-sectional study included 49 children with HSP, diagnosed and followed for at least 6 months in our department between July 2016 and March 2018. Sanger sequencing was performed for detecting C2 gene polymorphisms. Statistical analysis was performed for comparison of clinical and laboratory parameters between patients according to having C2 polymorphisms. Results: Only 6 patients (12.2%) had following C2 gene polymorphisms: rs9332739 (n=3), rs36221133 (n=2), rs146054348 (n=1). Age at disease onset, gastrointestinal and joint involvement, serum complement levels, renal involvement, requirement of systemic steroids and disease relapse were found similar between the patients with and without C2 gene polymorphism. We found higher serum IgM level and lower leukocyte counts in HSP patients with confirmed C2 polymorphisms than the patients with normal C2 gene. Conclusion: Although C2 gene polymorphisms were not related to clinical manifestations and disease outcome in children with HSP, we speculate that C2 gene polymorphisms may be associated with elevated serum IgM levels in patients with HSP. Amaç: Bu çalışmada Henoch Shönlein purpurası (HSP) tanılı çocuklarda C2 gen polimorfizmlerinin semptomlar ve hastalık şiddeti üzerine etkilerinin incelenmesi amaçlanmıştır. Gereç ve Yöntem: Bu kesitsel çalışmaya kliniğimizde Temmuz 2016 ve Mart 2018 tarihleri arasında HSP tanısı almış ve en az 6 ay takip edilmiş olan 49 çocuk hasta dahil edilmiştir. Kompleman C2 gen polimorfizmlerini değerlendirmek amacı ile Sanger sekanslama tekniği kullanılmıştır. Hastalar C2 gen polimorfizm varlığına gruplara ayrılarak klinik ve laboratuvar verileri karşılaştırılmıştır. Bulgular: Çalışmamızda sadece 6 (%12,2) hastada C2 gen polimorfizmleri saptanmıştır. Bunlar; rs9332739 (n=3), rs36221133 (n=2), rs146054348 (n=1) olarak sıralanabilir. C2 gen polimorfizmleri varlığına göre hasta grupları arasında yaş, gastrointestinal ve eklem tutulumları, serum kompleman düzeyleri, böbrek tutulumu, sistemik steroid gereksinimi ve hastalık relaps oranları benzer bulunmuştur. C2 gen polimorfizmi olan hastalarda, olmayanlara göre istatistiksel anlamlı olarak daha yüksek serum IgM düzeyi ve daha düşük lökosit sayısı saptanmıştır. Sonuç: Konusunda ilk olan çalışmamızda her ne kadar C2 gen polimorfizmlerinin HSP'li hastalarda klinik bulgular ve hastalık seyri üzerine etkisi gösterilememiş olsa da, HSP tanılı hastalarda yüksek serum IgM düzeyi C2 gen polimorfizmi ile ilişkili olabilir.

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Complement components 2 and 7 (C2 and C7) gene polymorphisms are not major risk factors for SLE susceptibility in the Malaysian population

Cited by 6 publications

References 22 publications

The complement system in systemic lupus erythematosus: an update

The complement system in systemic lupus erythematosus: an update

Genetic association of complement component 2 polymorphism with systemic lupus erythematosus

Complement C2 polymorphisms in children with Henoch Schönlein purpura

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