Association of a non-synonymous single-nucleotide polymorphism of DNASEI with SLE susceptibility

Bodaño, Ana; González, Antonio G.; Ferreirós-Vidal, Isabel; Balada, Eva; Ordi, J; Carreira, Patrícia; Gόmez-Reino, J.J.; Conde, Carmen

doi:10.1093/rheumatology/kel019

Cited by 49 publications

(34 citation statements)

References 30 publications

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“…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. 145,146 Studies of DNase II, III and IV in Korean populations have found that none of these DNase subtypes were associated with SLE susceptibility. [147][148][149] However, genetic variants of DNase II (rs4804209, rs11085823 and rs2293682) were weakly associated with lupus nephritis, 147 and DNase III (Trex-1 and Trex-2) and IV showed associations with the development of SLEassociated autoantibodies.…”

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confidence: 99%

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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confidence: 99%

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

Kim

et al. 2009

Genes Immun

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“…19 Furthermore, recent studies have demonstrated that DNASE1 Ã 2 is more common in systemic lupus erythematosus patients than in control groups in Korean and Spanish populations. 20,21 Further evaluations of the relevance of DNase I to these diseases are required.…”

Section: Resultsmentioning

confidence: 99%

Extremely high prevalence of DNASE11* allele in African populations

Takeshita¹,

Fujihara²,

Soejima³

et al. 2007

Cell Biochemistry & Function

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The single nucleotide polymorphism (SNP) at deoxyribonuclease I (DNase I), designated as DNASE1 (NCBI SNP number; 1053874), in exon 8 (A2317G) has been shown to be associated with liver disease, colorectal carcinoma, and gastric carcinoma in Japanese patients. In this study, we investigated the frequency of the DNASE1 polymorphism in Ghanaian (n = 96) and Xhosa (n = 78) populations and compared the results with those of other studies. The single nucleotide polymorphism was detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis. The frequencies of DNASE1*1 in the Ghanaian and Xhosa populations were 0.90 and 0.88, respectively. These two African populations had an extremely high frequency of DNASE1*1, similar to that of the Ovambos living in Namibia. Caucasians and Asians had a lower frequency of DNASE1*1 than the African groups. This study is the first to reveal an extremely high frequency of DNASE1*1 among African populations.

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“…The atempt to connect low DNase I activity with high serum actin concentrations was then rejected [114]. Numerous eforts to identify genetic changes, which can inluence on the enzyme activity, resulted in very rare incidence of functionally signiicant gene alterations, about two per 1000 sequenced SLE patients [115][116][117]. Other important information, provided by geneticists, was markedly increased expression of DNase I gene in SLE [115].…”

Section: Lupusmentioning

confidence: 99%

Elimination of Nucleoproteins in Systemic Lupus Erythematosus and Antinuclear Autoantibodies Production

Trofimenko¹

2017

Lupus

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The distinctive feature of systemic lupus erythematosus (SLE) is an immune reaction directed to diverse spectrum of autoantigens, which tends to change along with the disease spreading. The most common targets of the autoantibodies are protein and nucleoprotein components of cell nuclei: dsDNA, histones, nucleosomes, Sm antigen, and Ro and La antigens. Considering that the exact causes of this tolerance loss are unknown, a certain number of hypotheses are now discussed. One of the most promising is "waste disposal" concept, which makes a link between broken elimination of cellular debris, mononuclear phagocyte system dysfunction, and initiation of autoimmunity by the antigen presenting cells in SLE. This chapter concerns the ways nuclear antigens release from cells, necrosis, and apoptosis, as well as the key molecular mechanisms of transport and elimination of these antigens, its disturbances in SLE, and connection with innate immunity by mononuclear cells. Special atention is paid to nucleosomes and DNA degradation process, its principal factors (DNase I, C1q, SAP), blood DNA transportation by immune complexes, and immune stimulating action of DNA in SLE. Current pros and cons for the waste disposal concept and existing research trends in this ield are discussed.

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Association of a non-synonymous single-nucleotide polymorphism of DNASEI with SLE susceptibility

Abstract: The association of the Gln244Arg SNP with SLE susceptibility indicates that common polymorphisms in DNASEI play a role in the genetics of SLE. However, the lack of effect of the Gln244Arg SNP on serum DNase I activity calls into question the direct involvement of this specific SNP.

Cited by 49 publications

References 30 publications

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

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

Extremely high prevalence of DNASE11* allele in African populations

Elimination of Nucleoproteins in Systemic Lupus Erythematosus and Antinuclear Autoantibodies Production

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Association of a non-synonymous single-nucleotide polymorphism of DNASEI with SLE susceptibility

Abstract: The association of the Gln244Arg SNP with SLE susceptibility indicates that common polymorphisms in DNASEI play a role in the genetics of SLE. However, the lack of effect of the Gln244Arg SNP on serum DNase I activity calls into question the direct involvement of this specific SNP.

Cited by 49 publications

References 30 publications

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

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

Extremely high prevalence of DNASE1*1 allele in African populations

Elimination of Nucleoproteins in Systemic Lupus Erythematosus and Antinuclear Autoantibodies Production

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Product

Resources

About

Extremely high prevalence of DNASE11* allele in African populations