Low producer MBL genotypes are associated with susceptibility to systemic lupus erythematosus in Odisha, India

Panda, Aditya K.; Parida, Jyoti Ranjan; Tripathy, Rina; Pattanaik, Sarit Sekhar; Ravindran, Balachandran; Das, B. K.

doi:10.1016/j.humimm.2012.09.003

Cited by 30 publications

(50 citation statements)

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“…SNPs were chosen from previous studies on the correlation between CLRs and various autoimmune or auto-inflammatory diseases 31, 38–46 .Minor allele frequency (MAF) and linkage disequilibrium (LD) were tested by HaploView 4.2 software based on the data of Han Chinese in the HapMap database (MAF > 0.05 as well as an r 2 -value of LD < 0.8). Based on this analysis, we selected a total of 14 SNPs, including 2 SNPs (rs1800450 38 , rs7096206 39 ) in MBL2 , one SNPs (911887 40 ) in SFTPD , one SNP (rs1323461 41 ) in CLEC12A , one SNP (rs2377422 42 ) in CLEC4A , one SNP (3764022 43 ) in CLEC2D , one SNP (rs2287886 44 ) in CD209 , one SNPs (rs4763879 15 ) in CD69 , one SNP (rs2302489 45 ) in KLRD1 , one SNP (rs2734440 17 ) in KLRC1 , one SNP (rs2255336 17 ) in KLRK1 , one SNP (rs2617170 31 ) in KLRC4 , one SNP (rs4763655 18 ) in KLRB1 and one SNP (rs1121401 46 ) in KLRG1 .…”

Section: Methodsmentioning

confidence: 99%

“…Based on this analysis, we selected a total of 14 SNPs, including 2 SNPs (rs1800450 38 , rs7096206 39 ) in MBL2 , one SNPs (911887 40 ) in SFTPD , one SNP (rs1323461 41 ) in CLEC12A , one SNP (rs2377422 42 ) in CLEC4A , one SNP (3764022 43 ) in CLEC2D , one SNP (rs2287886 44 ) in CD209 , one SNPs (rs4763879 15 ) in CD69 , one SNP (rs2302489 45 ) in KLRD1 , one SNP (rs2734440 17 ) in KLRC1 , one SNP (rs2255336 17 ) in KLRK1 , one SNP (rs2617170 31 ) in KLRC4 , one SNP (rs4763655 18 ) in KLRB1 and one SNP (rs1121401 46 ) in KLRG1 . CLEC16A 47 and selectins 48 were excluded from this study because they have been reported previously by our team.…”

Section: Methodsmentioning

confidence: 99%

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Genetic polymorphisms of C-type lectin receptors in Behcet’s disease in a Chinese Han population

Yang

Tan

Deng

et al. 2017

Sci Rep

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C-type lectin receptors (CLRs) have been demonstrated to be involved in several autoimmune diseases. The role of CLRs in Behcet’s disease (BD) is unknown and thus was the purpose of this study. A two-stage association study was carried out and a total of 766 BD patients and 1674 healthy controls were recruited. Genotyping of 14 SNPs of 13 genes in CLRs was carried out by iPLEX Gold genotyping or polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay. The expression of mannose binding lectin 2 (MBL2) and killer cell lectin like receptor C4 (KLRC4) was measured by Real-time PCR. Significantly increased frequencies of the A allele as well as AA genotype of rs1800450 in MBL2 (Pc = 2.50 × 10−6, OR = 1.494; Pc = 2.24 × 10−6,OR = 2.899; respectively) and TT genotype of rs2617170 in KLRC4 (Pc = 2.53 × 10−6, OR = 1.695) and decreased frequencies of GG genotype of rs1800450 (Pc = 1.56 × 10−3, OR = 0.689) and C allele as well as CC genotype of rs2617170 (Pc = 2.05 × 10−9,OR = 0.664; Pc = 1.20 × 10−5, OR = 0.585; respectively) were observed in BD. Two variants, p.Gly54Asp (rs1800450) and p.Asn104Ser (rs2617170) affect MBL2 and KLRC4 protein stability and expression. Our study demonstrates that the MBL2/rs1800450 and KLRC4/rs2617170 are susceptibility factors for BD in a Chinese Han population.

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Section: Methodsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Genetic polymorphisms of C-type lectin receptors in Behcet’s disease in a Chinese Han population

Yang

Tan

Deng

et al. 2017

Sci Rep

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“…As described earlier [24-26], diagnosis of SLE was based on the revised American College of Rheumatology (ACR) classification criteria [27]. After a detailed clinical examination and laboratory investigation, the clinical manifestations were categorized.…”

Section: Methodsmentioning

confidence: 99%

Vitamin D levels in Indian systemic lupus erythematosus patients: association with disease activity index and interferon alpha

et al. 2014

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IntroductionLow levels of vitamin D have been associated with several autoimmune disorders including multiple sclerosis, rheumatoid arthritis, type 1 diabetes and systemic lupus erythematosus (SLE). The major source of vitamin D is sunlight but exposure of SLE patients to UV rays has been shown to exacerbate disease pathology. Studies in various populations have shown an association between low vitamin D levels and higher SLE disease activity.MethodsWe enrolled 129 patients who fulfilled American College of Rheumatology criteria in the study. There were 79 treatment-naïve cases and 50 patients who were under treatment for underlying SLE. There were 100 healthy subjects from similar geographical areas included as controls. Plasma 25-OH vitamin D3 and interferon (IFN)-α levels were quantified by enzyme-linked immunosorbent assay (ELISA). The gene expression level of IFN-α was determined by quantitative real-time reverse transcriptase polymerase chain reaction (RT-PCR).ResultsPlasma 25-OH vitamin D3 significantly correlated in an inverse manner with systemic lupus erythematosus disease activity index (SLEDAI) scores (P <0.0001, r = -0.42), anti-dsDNA (P <0.0001, r = -0.39), plasma IFN-α (P <0.0001, r = -0.43) and levels of IFN-α gene expression (P = 0.0009, r = -0.45). Further, plasma levels of IFN-α positively correlated with gene expression of IFN-α (P <0.0001, r = 0.84). Treatment-naïve SLE patients displayed significantly higher plasma levels of IFN-α compared to patients under treatment (P <0.001) and controls (P <0.001).ConclusionsThese results suggest an important role of vitamin D in regulating disease activity in SLE patients and the need to supplement vitamin D in their treatment.

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“…The role of MBL in the lupus pathogenesis is potentially complex as high expression results in complement activation and tissue damage while low levels lead to defective apoptotic cell clearance (82, 83). Variants in the MBL2 gene result in MBL deficiency, predisposition to SLE, and increased risk of LN (84-86).…”

Section: Defects In Clearance Mechanisms Contribute To Nephritismentioning

confidence: 99%

Cell death in the pathogenesis of systemic lupus erythematosus and lupus nephritis

Mistry

Kaplan

2017

Clinical Immunology

169

137

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Nephritis is one of the most severe complications of systemic lupus erythematosus (SLE). One key characteristic of lupus nephritis (LN) is the deposition of immune complexes containing nucleic acids and/or proteins binding to nucleic acids and autoantibodies recognizing these molecules. A variety of cell death processes are implicated in the generation and externalization of modified nuclear autoantigens and in the development of LN. Among these processes, apoptosis, primary and secondary necrosis, NETosis, necroptosis, pyroptosis, and autophagy have been proposed to play roles in tissue damage and immune dysregulation. Cell death occurs in healthy individuals during conditions of homeostasis yet autoimmunity does not develop, at least in part, because of rapid clearance of dying cells. In SLE, accelerated cell death combined with a clearance deficiency may lead to the accumulation and externalization of nuclear autoantigens and to autoantibody production. In addition, specific types of cell death may modify autoantigens and alter their immunogenicity. These modified molecules may then become novel targets of the immune system and promote autoimmune responses in predisposed hosts. In this review, we examine various cell death pathways and discuss how enhanced cell death, impaired clearance, and post-translational modifications of proteins could contribute to the development of lupus nephritis.

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Low producer MBL genotypes are associated with susceptibility to systemic lupus erythematosus in Odisha, India

Cited by 30 publications

References 40 publications

Genetic polymorphisms of C-type lectin receptors in Behcet’s disease in a Chinese Han population

Genetic polymorphisms of C-type lectin receptors in Behcet’s disease in a Chinese Han population

Vitamin D levels in Indian systemic lupus erythematosus patients: association with disease activity index and interferon alpha

Cell death in the pathogenesis of systemic lupus erythematosus and lupus nephritis

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