Beta-adducin and sodium–calcium exchanger 1 gene variants are associated with systemic lupus erythematosus and lupus nephritis

Ramirez, Giuseppe A.; Lanzani, Chiara; Bozzolo, Enrica; Zagato, Laura; Citterio, Lorena; Casamassima, Nunzia; Canti, Valentina; Sabbadini, Maria Grazia; Rovere‐Querini, Patrizia; Manunta, Paolo; Manfredi, Angelo A.

doi:10.1007/s00296-015-3298-x

Cited by 7 publications

(4 citation statements)

References 24 publications

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“…Intriguingly, recent research has identified this variant in association with an increased susceptibility to several human malignancies including noncardia gastric cancer and colorectal cancer [ 141 , 142 ]. It has been reported that ADD2 (rs4983) variant in combination with sodium-calcium exchanger 1 (NCX1) variants (rs11893826 and rs434082) could possibly interact in regulating systemic inflammation and influence the risk of system lupus erythematosus [ 143 ]. Mutation in ADD3 is associated with inherited cerebral palsy due to impaired neuromotor activity [ 144 ].…”

Section: Adducin and Related Disordersmentioning

confidence: 99%

A Review on Adducin from Functional to Pathological Mechanisms: Future Direction in Cancer

Kiang

Leung

2018

BioMed Research International

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Adducin (ADD) is a family of membrane skeleton proteins including ADD1, ADD2, and ADD3 that are encoded by distinct genes on different chromosomes. Adducin is primarily responsible for the assembly of spectrin-actin network that provides physical support to the plasma membrane and mediates signal transduction in various cellular physiological processes upon regulation by protein kinase C-dependent and calcium/calmodulin-dependent pathways. Abnormal phosphorylation, genetic variations, and alternative splicing of adducin may contribute to alterations in cellular functions involved in pathogenic processes. These alterations are associated with a wide range of diseases including cancer. This paper begins with a discussion on how adducin partakes in the structural formation of membrane skeleton, its regulation, and related functional characteristics, followed by a review on the pathogenesis of hypertension, biliary atresia, and cancer with respect to increased disease susceptibility mediated by adducin polymorphism and/or dysregulation. Given the functional diversity of adducin in different cellular compartments, we aim to provide a knowledge base whereby its pathophysiological roles can be better understood. More importantly, we aim to provide novel insights that may be of significance in turning the adducin model to clinical application.

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Section: Adducin and Related Disordersmentioning

confidence: 99%

A Review on Adducin from Functional to Pathological Mechanisms: Future Direction in Cancer

Kiang

Leung

2018

BioMed Research International

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“…Previously studies have identified several SNPs were associated with clinical phenotypes of SLE (Jiang et al., ; Ramirez et al., ; Sheng et al., ; Wang et al., ), which also highlight that SLE is a heterogeneous disease. In this study, we aim to identify associations between specific clinical manifestations of SLE and the variant rs16972959.…”

Section: Discussionmentioning

confidence: 91%

Increased expression of PRKCB mRNA in peripheral blood mononuclear cells from patients with systemic lupus erythematosus

Zhu

Yang

Zhang

et al. 2018

Annals of Human Genetics

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The polymorphism of PRKCB has been proven to be associated with systemic lupus erythematosus (SLE) in our previous study. We aimed to investigate the relationship between expression of PRKCB mRNA and the Disease Activity Index (SLEDAI) and manifestations of SLE. Quantitative reverse transcription polymerase chain reaction (RT-PCR) was applied to examine the expression of PRKCB mRNA in peripheral blood mononuclear cells of 60 patients with SLE and 62 controls. The Sequenom MassArray System was used to detect genotype SNP rs16972959. The expression levels of PRKCB mRNA in SLE cases were significantly increased compared with those in healthy controls (P < 0.001). In addition, PRKCB mRNA expression levels were negatively correlated with the SLEDAI (P < 0.05, r = -0.322), with lower mRNA expression levels of PRKCB in patients found with higher SLEDAI, presence of a new rash (P < 0.01), and proteinuria (P < 0.05). No association evidence was observed between the genotype of the variant rs16972959 and PRKCB mRNA expression levels; however, SNP rs16972959 was found to be an expression quantitative trait loci for PRKCB with the SLE risk allele correlated with increased expression in naïve monocytes (P = 9.12 × 10 ) and stimulated monocytes (9.24 × 10 > P > 2.75 × 10 ). On the other hand, SNP rs16972959 of PRKCB was found to have suggestive significant associations with vasculitis (P = 0.00718) of SLE. These results indicated that expression of PRKCB mRNA may be correlated with the pathogenesis of SLE; however, more investigation is still needed.

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“…ADD2 is involved in multiple pathogenic processes with a wide range of diseases 61. ADD2 gene variants are associated with hypertension,62 cancer61 and systemic lupus erythematosus 63…”

Section: Discussionmentioning

confidence: 99%

Altered DNA methylation in children born to mothers with rheumatoid arthritis during pregnancy

et al. 2019

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ObjectivesThe main objective of this study was to determine whether the DNA methylation profile of children born to mothers with rheumatoid arthritis (RA) is different from that of children born to mothers from the general population. In addition, we aimed to determine whether any differences in methylation are associated with maternal RA disease activity or medication use during pregnancy.MethodsFor this study, genome-wide DNA methylation was measured at cytosine-phosphate-guanine (CpG) sites, using the Infinium Illumina HumanMethylation 450K BeadChip, in 80 blood samples from children (mean age=6.8 years) born to mothers with RA. As controls, blood samples from 354 children (mean age=6.0 years) from the population-based Generation R Study were used. Linear mixed models were performed to investigate differential methylation between the groups, corrected for relevant confounders.ResultsA total of 147 CpGs were differentially methylated between blood samples of children born to mothers with RA and the control blood samples. The five most significantly associated CpGs were cg06642177, cg08867893, cg06778273, cg07786668 and cg20116574. The differences in methylation were not associated with maternal RA disease activity or medication use during pregnancy.ConclusionsDNA methylation at 147 CpGs differed between children born to mothers with RA and children born to mothers from the general population. It remains unknown whether the identified associations are causal, and if so whether they are caused by the disease or treatment. More research, including replication of these results, is necessary in order to strengthen the relevance of our findings for the later-life health of children born to mothers with RA.

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Beta-adducin and sodium–calcium exchanger 1 gene variants are associated with systemic lupus erythematosus and lupus nephritis

Cited by 7 publications

References 24 publications

A Review on Adducin from Functional to Pathological Mechanisms: Future Direction in Cancer

A Review on Adducin from Functional to Pathological Mechanisms: Future Direction in Cancer

Increased expression of PRKCB mRNA in peripheral blood mononuclear cells from patients with systemic lupus erythematosus

Altered DNA methylation in children born to mothers with rheumatoid arthritis during pregnancy

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