Common DNase I polymorphism associated with autoantibody production among systemic lupus erythematosus patients

Shin, Hyoung Doo; Park, Byung Lae; Kim, Lyoung Hyo; Lee, Hye‐Soon; Kim, Think‐You; Bae, Sang Cheol

doi:10.1093/hmg/ddh275

Cited by 65 publications

(34 citation statements)

References 16 publications

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“…Patients who have low amounts of DNases in their blood are not able to adequately control NET formation and thus may have a higher risk to develop severe sequelae than patients with normal amounts of DNases. It would be of interest, therefore, to analyze the DNase gene polymorphism [57], e.g., in patients with blood stream infections (BSI) and chronically high amounts of NETs in blood values, for example in septic patients [58,59] at high risk for organ failure or in patients with autoimmune disease.…”

Section: Nets and The Putative Pathophysiological Role In Immune Disomentioning

confidence: 99%

The clinical value of neutrophil extracellular traps

Lögters

Margraf

Altrichter

et al. 2009

Med Microbiol Immunol

101

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Neutrophil extracellular traps (NETs) have recently been discovered as a central part of antimicrobial innate immunity. In the meanwhile, evidence accumulated that NETs are also generated upon non-infectious stimuli in various clinical settings. In acute or chronic inflammatory disorders aberrantly enhanced NET formation and/or decreased NET degradation seems to correlate with disease outcome. This review summarizes current knowledge about the relation of NETs in a broad spectrum of clinical settings. Specifically, we focus on the importance of NETs as a predictive marker in severely ill patients and further, we speculate about the potential pathophysiology of NETs.

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Section: Nets and The Putative Pathophysiological Role In Immune Disomentioning

confidence: 99%

The clinical value of neutrophil extracellular traps

Lögters

Margraf

Altrichter

et al. 2009

Med Microbiol Immunol

101

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“…142 In addition to the absence of the exon 2 mutation, no SLE-associated SNPs of DNase I were found in a Korean population, but rs1053874 ( þ 2373A/G; Gln244Arg) was associated with the production of anti-dsDNA antibody in this population. 143 Although no association between rs1053874 and SLE susceptibility was found in a Chinese population, a haplotype including rs1053874 was associated with SLE. 144 Two SLE genetic studies related to DNase I performed in a Spanish population found that þ 2035C/G, which is in strong linkage disequilibrium with þ 2373A/G, was significantly associated with SLE.…”

mentioning

confidence: 95%

Genetic studies of systemic lupus erythematosus in Asia: where are we now?

Kim

et al. 2009

Genes Immun

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There have been many genetic studies of systemic lupus erythematosus (SLE) in Asia, but the status of SLE in Asia remains unclear. Genes that have been associated with SLE in Caucasians have shown both consistent and inconsistent results in Asians. This prompted us to review studies of SLE-associated genes and compare the degree of consistency according to ethnicity in Asia. We searched PubMed and the national databases in Korea and Japan for SLE genetic studies. A total of 755 articles were found and after applying various exclusion criteria, 442 studies including 17 linkage studies, 2 genome-wide association studies and 423 candidate-gene analyses were reviewed. Nine linkage loci were confirmed to be associated with SLE susceptibility in non-Asians, but the risk locus (16q12) has been identified in only one Asian study. A total of 156 candidate genes were analyzed, of which 92 were studied in Asians. Although there were allelic (HLA-DRB1 and IRF5) or genetic heterogeneity (FCGR gene family), HLA-DRB1, the FCGR gene family, IRF5, STAT4 and MECP2 showed consistent associations with SLE susceptibility across ethnicities. In conclusion, genetic associations often vary with ethnicity, requiring validation in different ethnic groups, and hence future SLE genetic studies will require strong worldwide collaborations.

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“…Our previous study revealed that one nonsynonymous SNPs in exon 8, +2373A>G (Gln244Arg), was significantly associated with an increased risk of the production of anti-RNP and anti-dsDNA antibodies among SLE patients (Shin et al 2004). The present study provides, for the first time, information about genetic polymorphisms in DNase II and positive associations of those polymorphisms with important lupus phenotype (renal disorder) among SLE patients in the Korean population.…”

Section: Resultsmentioning

confidence: 99%

DNase II polymorphisms associated with risk of renal disorder among systemic lupus erythematosus patients

et al. 2005

Self Cite

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DNase II is an important enzyme for DNA fragmentation and degradation during programmed cell death and, consequently, a potential candidate gene for genetic study of systemic lupus erythematosus (SLE). Genetic associations of DNase II with SLE and related phenotypes were examined in Korean patients with SLE. A total of 350 Korean SLE patients and 330 healthy subjects were enrolled. Direct DNA sequencing and TaqMan were employed. Logistic regression analyses were performed to examine the genetic association with SLE and related phenotypes. Through direct sequencing in 24 Korean individuals, six sequence variants were identified: one in the 5¢ flanking region, four in exons (including one nonsynonymous), and one in the 3¢ flanking region. Four of these polymorphisms were selected for a larger-scale genotyping (350 SLE patients and 330 normal controls). No significant associations with the risk of SLE were detected. However, further analyses of association with the risk of renal disorder among SLE patients revealed several positive associations. One promoter SNP (-1066G>C), +2630T>C (Ser145Ser), +6235G>C and one haplotype showed weak associations with the risk of nephritis among SLE patients.

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Common DNase I polymorphism associated with autoantibody production among systemic lupus erythematosus patients

Cited by 65 publications

References 16 publications

The clinical value of neutrophil extracellular traps

The clinical value of neutrophil extracellular traps

Genetic studies of systemic lupus erythematosus in Asia: where are we now?

DNase II polymorphisms associated with risk of renal disorder among systemic lupus erythematosus patients

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