Molecular characterization of the complement C1q, C2 and C4 genes in Brazilian patients with juvenile systemic lupus erythematosus

Liphaus, Bernadete L.; Umetsu, Natalia; Jesús, Adriana Almeida de; Bando, Sílvia Yumi; Silva, Clóvis A.; Carneiro‐Sampaio, Magda

doi:10.6061/clinics/2015(03)12

Cited by 11 publications

(8 citation statements)

References 43 publications

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“…It is therefore likely the C1q polymorphisms have a causative association with age of onset. Amyloid 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 45 46 47 48 49 50 51 52 53 54 55 56 57 58 59 [37,38].…”

Section: Discussionmentioning

confidence: 99%

Epidemiology of ATTRV30M neuropathy in Cyprus and the modifier effect of complement C1q on the age of disease onset

Andreou

Panayiotou

Michailidou

et al. 2018

Amyloid

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Background: ATTRV30M amyloidosis is a lethal autosomal dominant sensorimotor and autonomic neuropathy caused by amyloid deposition composed of aggregated misfolded TTR monomers with the V30M mutation. The age of onset in patients with ATTRV30M varies in different foci and the mechanism behind it is still unknown. Methods:The tertiary neurology center following all ATTRV30M patients in Cyprus was used to collect demographic data to estimate; prevalence, incidence, penetrance, anticipation, time from disease onset to diagnosis and transplantation. Ocular, cardiac and leptomeningeal involvement in transplanted patients was explored. Correlation of C1q tagging SNPs with age of disease onset was carried out.Results: Prevalence and incidence for ATTRV30M neuropathy in Cyprus are 5.4/100,000 and 0.3/100,000 respectively. Mean age of onset is 40.6 years and anticipation is 8.3 years.Penetrance reaches 51% and 75% by the ages of 50 and 80 years respectively. In liver transplanted patients rates of ocular, cardiac and leptomeningeal involvement were estimated to be 60%, 20% and 16% respectively. C1q polymorphisms correlated with age of disease onset.Conclusion: ATTRV30M neuropathy has a rising prevalence in Cyprus due to improved survival of patients. Late onset complications are becoming a major problem. Complement C1q appears to be a modifier in this disease.

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Section: Discussionmentioning

confidence: 99%

Epidemiology of ATTRV30M neuropathy in Cyprus and the modifier effect of complement C1q on the age of disease onset

Andreou

Panayiotou

Michailidou

et al. 2018

Amyloid

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“…This method has been selected based on the several studies that evaluated the mRNA level of C2 and C4 to study the mechanism on the regulation of two genes. The C2 and C4 mRNA expression were quantified with qRT-PCR in IFN-γ stimulated mononuclear cells [17]. A significant alterations on the mRNA content of C2 and C4 in the liver, lung, heart and intestine was detected between MRL (lpr/lpr) strain and MRL (+/+) strain although there are no difference in the spleen [18].…”

Section: Discussionmentioning

confidence: 99%

Compensatory role of C3 convertase on the strain difference for C3 protein expression in FVB/N, C3H/HeN and C57BL/6N mice

et al. 2020

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To investigate the role of complement C3 (C3) convertase on the strain difference for C3 protein expression in three inbred mice strains, we compared the levels of C2, C3 and C4 mRNA, as well as C3 protein and C3 convertase activity in the serum and liver tissue of FVB/N, C3H/HeN and C57BL/6N mice. The level of mRNA, inactive form (InACF) and active form (ACF) for C3 showed a regular pattern, which they were higher in the FVB/N and C57BL/6N mice than C3H/HeN mice. However, the level of C3b fragments (C3bα and β) derived from C3 protein were constantly maintained in the liver of FVB/N, C3H/HeN and C57BL/6N mice in spite of the strain difference on the transcriptional and translation level of C3. Especially, a reverse pattern of the level of mRNA, InACF and ACF for C3 was observed on the activity level of C3 convertase activity. The highest level of C3 convertase activity was measured in C3H/HeN mice, followed by C57BL/6N and FVB/N mice. In case of C3 convertase components, the level of C2 mRNA was higher in C3H/HeN mice than FVB/N and C57BL/6 N mice, while levels of C4 mRNA were higher in FVB/N and C57BL/6N mice than C3H/HeN mice. The current study results provide the first scientific evidence that C3 convertase may play complementary role to overcome the strain difference on the C3 protein expression in FVB/N, C3H/HeN and C57BL/6N mice.

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“…Systemic lupus erythematosus (SLE) is a chronic systematic autoimmune disease with high heterogeneity (1,2). SLE is more prevalent in women of reproductive age than in men (3)(4)(5). Although the etiology and pathogenesis of SLE have not been fully elucidated, the breakdown of immune tolerance induced by environmental stimulation and genetic factors is widely reported to play a core role in SLE (1,2,6,7).…”

Section: ' Introductionmentioning

confidence: 99%

Relationship between Neutrophil-to-Lymphocyte Ratio and Systemic Lupus Erythematosus: A Meta-analysis

Wang¹,

Wang²,

Jia³

et al. 2020

Clinics

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Systemic lupus erythematosus (SLE) is a chronic systematic autoimmune disease. Current methods of diagnosing SLE or evaluating its activity are complex and expensive. Numerous studies have suggested that neutrophil-tolymphocyte ratio (NLR) is closely correlated with the presence of SLE and its activity, suggesting that it may serve as a diagnostic and monitoring indicator for SLE. Therefore, we performed a meta-analysis to systematically assess the association between NLR and SLE. We performed a literature search until 12 April 2019 in the PubMed, Web of Science, and China National Knowledge Infrastructure databases. Cross-sectional studies comparing the NLR of SLE patients versus those of healthy controls, of active versus inactive SLE patients, and of SLE patients with versus without lupus nephritis were considered for inclusion. Mean intergroup NLR differences were estimated using standardized mean differences and their 95% confidence intervals. Study quality was assessed using the Agency for Healthcare Research and Quality instrument for cross-sectional studies. Fourteen studies with 1,781 SLE patients and 1,330 healthy controls were included in this meta-analysis. The pooled results showed that the NLR was significantly higher in SLE patients than in healthy controls, in active SLE patients than in inactive SLE patients, and in SLE patients with lupus nephritis than in those without lupus nephritis. NLR may be an indicator for monitoring disease activity and reflecting renal involvement in SLE patients. Nevertheless, more high-quality studies are warranted to further validate our findings.

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Molecular characterization of the complement C1q, C2 and C4 genes in Brazilian patients with juvenile systemic lupus erythematosus

Cited by 11 publications

References 43 publications

Epidemiology of ATTRV30M neuropathy in Cyprus and the modifier effect of complement C1q on the age of disease onset

Epidemiology of ATTRV30M neuropathy in Cyprus and the modifier effect of complement C1q on the age of disease onset

Compensatory role of C3 convertase on the strain difference for C3 protein expression in FVB/N, C3H/HeN and C57BL/6N mice

Relationship between Neutrophil-to-Lymphocyte Ratio and Systemic Lupus Erythematosus: A Meta-analysis

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