Association of mannose binding lectin (MBL) gene polymorphism and serum MBL concentration with characteristics and progression of systemic lupus erythematosus

Takahashi, Reiko; Tsutsumi, Akito; Ohtani, Katsuki; Muraki, Yoshifumi; Goto, Daisuke; Matsumoto, Isao; Wakamiya, Nobutaka; Sumida, Takayuki

doi:10.1136/ard.2003.020172

Cited by 80 publications

(69 citation statements)

References 14 publications

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“…Therefore, binding of MBL2 to IgG 0 in the sera of RA patients may be one of the reasons for chronic inflammation in RA cases, and recent studies have indicated its importance in various autoimmune diseases, including RA (Turner and Hamvas 2000;Tsutsumi et al 2001;Takahashi et al 2005;Wang et al 2001). The serum MBL2 level is greatly affected by the polymorphisms of the MBL2 gene (Tsutsumi et al 2001;Takahashi et al 2005;Lipscombe et al 1992;Kilpatrick 2002). The MBL2 gene (locus ID 4153), located on chromosome 10 at position 10q21.1, contains four exons (Sastry et al 1989).…”

Section: Introductionmentioning

confidence: 99%

Association of mannose-binding lectin gene (MBL2) polymorphisms with rheumatoid arthritis in an Indian cohort of case-control samples

et al. 2005

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Single nucleotide polymorphisms in the mannose-binding lectin (MBL2) gene, as well as the serum MBL2 level, have been associated with various autoimmune diseases. We investigated whether such polymorphisms and/or the serum MBL2 level were associated with rheumatoid arthritis (RA) in an Indian population. The frequency of the B variant (codon 54) of the MBL2 gene was quite frequent in the healthy Indian population and was significantly (P=6.35·10 À6 ) lower in RA patients. We replicated this association (P=1.78·10 À5 ) in an independent cohort of control individuals. Promoter polymorphism at À550 nt showed a significant overrepresentation (P=0.003) of the minor allele G in severe RA patients compared with the less severe group. Haplotype LYA frequency was significantly (P=0.03) high in the less severe group, while the frequency of the HYA haplotype was significantly (P=0.04) increased in the severe RA patients. No statistically significant difference in serum MBL2 was observed as a whole, but the individuals homozygous for the LYA haplotype had significantly lower (P=0.017) serum MBL2 levels compared with individuals homozygous for the HYA haplotype. Therefore, the B variant of the MBL2 gene may be associated with protection from RA in our study population, and the promoter polymorphism (À550 nt) seems to have some role in disease progression.

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Section: Introductionmentioning

confidence: 99%

Association of mannose-binding lectin gene (MBL2) polymorphisms with rheumatoid arthritis in an Indian cohort of case-control samples

et al. 2005

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“…Mannose-binding lectin (MBL) is structurally similar to C1q, which is involved in complement activation through a lectin pathway. 64 The MBL gene is located at 10q11, and genetic polymorphisms have been found within exon 1 (rs1800450 (codon 54 G/A; allele B), rs1800451 (codon 57 G/A; allele C) and rs5030737 (codon 52 C/T; allele D)) and the promoter region (rs11003125 (-550G/C; allele L) and rs7096206 (-221C/G; allele X)) in Caucasian, [165][166][167][168][169][170] African American, 166,167 Spanish, 171 Japanese [172][173][174] and Chinese 175,176 populations. Although genetic studies investigating associations of MBL mutations with SLE have produced inconsistent results, a meta-analysis found that rs1800450, rs11003125 and rs7096206 were significantly associated with SLE in Caucasians, Asians and Africans.…”

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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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“…On the other hand, imbalances in these systems may promote the induction of autoimmunity [59,86,125,[143][144][145].…”

Section: Development and Pathogenicity Of Antibodies Against Acute-phmentioning

confidence: 99%

Pathogenic implications for autoantibodies against C-reactive protein and other acute phase proteins

Sjöwall

Wetterö

2007

Clinica Chimica Acta

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Systemic lupus erythematosus (SLE) is a systemic rheumatic disease characterized clinically by multiorgan involvement and serologically by the occurrence of antinuclear antibodies. SLE patients may present with multiple autoantibodies to cytoplasmic and cell surface antigens as well as to circulating plasma proteins. Another feature of SLE is that serum levels of C-reactive protein (CRP) often remain low despite high disease activity and despite high levels of other acute phase proteins and interleukin-6, i.e. the main CRP inducing cytokine. Apart from its important role as a laboratory marker of inflammation, CRP attracts increasing interest due to its many intriguing biological functions, one of which is a role as an opsonin contributing to the elimination of apoptotic cell debris, e.g. nucleosomes, thereby preventing immunization against autoantigens. Recently, autoantibodies against CRP and other acute phase proteins have been reported in certain rheumatic conditions, including SLE. Although the presence of anti-CRP autoantibodies does not explain the failed CRP response in SLE, antibodies directed against acute phase proteins have several implications of pathogenetic interest. This paper thus highlights the biological and clinical aspects of native and monomeric CRP and anti-CRP, as well as autoantibodies against mannose-binding lectin, serum amyloid A and serum amyloid P component. © 2006 Elsevier B.V. All rights reserved

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Association of mannose binding lectin (MBL) gene polymorphism and serum MBL concentration with characteristics and progression of systemic lupus erythematosus

Cited by 80 publications

References 14 publications

Association of mannose-binding lectin gene (MBL2) polymorphisms with rheumatoid arthritis in an Indian cohort of case-control samples

Association of mannose-binding lectin gene (MBL2) polymorphisms with rheumatoid arthritis in an Indian cohort of case-control samples

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

Pathogenic implications for autoantibodies against C-reactive protein and other acute phase proteins

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