Association of CTLA4 exon-1 polymorphism with the tumor necrosis factor-α in the risk of systemic lupus erythematosus among South Indians

Katkam, Shiva Krishna; Kumaraswami, Konda; Rupasree, Yedluri; Thishya, Kalluri; Rajasekhar, Liza; Kutala, Vijay Kumar

doi:10.1016/j.humimm.2015.11.002

Cited by 16 publications

(8 citation statements)

References 45 publications

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“…In the present study, the CTLA-4 rs231775 SNP conferred a protective role against SLE occurrence; p=0.02, OR [95% CI] = 0.54 [31-0.94]. This was similarly the case in Indian, Thai and Chinese populations [37][38][39][40]. Inversely, this association to SLE susceptibility has not been found in other independent cohorts of the same populations or in different ethnic groups [41].…”

Section: Discussionsupporting

confidence: 57%

PTPN22, CTLA4, FcγRIIa, FcγRIIIa and FcγRIIIb polymorphisms in Tunisian patients with systemic lupus erythematosus

Dhaouadi¹,

Sfar²,

Hassine³

et al. 2019

Int. J. Clin. Rheumatol

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Background: Pathogenesis of systemic lupus erythematosus (SLE) involves both T cell tolerance breakdown and pathogenic autoantibodies. Polymorphisms in T cell regulatory proteins (PTPN22 and CTLA-4) and IgG receptors (FcγR) genes could impact their functions. Consequently, we aimed to study the role of PTPN22, CTLA-4, FcγRII and FcγRIII polymorphisms on either SLE susceptibility or its severity. Methods: Consequently, PTPN22 rs2476601 (R620W), CTLA-4 rs231775 (+49 A/G), FcγRIIa rs1801274 (R131H), FcγRIIIa rs396991 (F158V) and FcγRIIIb Na1/Na2 polymorphisms were examined in 137 SLE patients and 100 healthy blood donors matched in age, gender and ethnic origin. Results: The PTPN22-620*W mutant allele was significantly more prevalent in SLE patients comparatively to controls; p=0.001, OR [95% CI] = 7.8 [1.73-48.85]. Inversely, the frequency of the CTLA-4*G/G homozygous genotype was significantly lower in patients (35%) than in controls; p=0.02, OR [95% CI] = 0.54 [0.31-0.94]. Regarding to FcγR polymorphisms, while the FcγRIIIa*V allele was more prevalent in case of SLE (0.562 vs 0.35); p=0.001, OR [95% CI] = 2.77 [1.38-5.68], FcγRIIa and FcγRIIIb did not show any association with SLE. Analytic results showed that the prevalence of anti-dsDNA autoantibody was significantly higher in patients carrying PTPN22*W allele p=0.038. Otherwise, no correlation was found between the five studied polymorphisms and either clinical or biological patients characteristics. Conclusion: PTPN22 R620W, CTLA-A +49 A/G and FcγRIIIa F158V polymorphisms seem to be related to SLE susceptibility in Tunisian.

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Section: Discussionsupporting

confidence: 57%

PTPN22, CTLA4, FcγRIIa, FcγRIIIa and FcγRIIIb polymorphisms in Tunisian patients with systemic lupus erythematosus

Dhaouadi¹,

Sfar²,

Hassine³

et al. 2019

Int. J. Clin. Rheumatol

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“…There are limited studies in the Indian population 10,53,54 , especially, in the malaria endemic belts, for possible association between TNF-α polymorphisms (G-238A and G-308A) and SLE. A recent study has shown a significant association between heterozygotes and minor allele to SLE 10 .…”

Section: Introductionmentioning

confidence: 99%

TNF-α promoter polymorphisms (G-238A and G-308A) are associated with susceptibility to Systemic Lupus Erythematosus (SLE) and P. falciparum malaria: a study in malaria endemic area

Mahto

Tripathy

Meher

et al. 2019

Sci Rep

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Tumor necrosis factor-α (TNF-α) is a proinflammatory cytokine associated with autoimmune and infectious diseases. Importance of TNF-α in P . falciparum malaria and systemic lupus erythematosus (SLE) have been demonstrated. However, association of functional promoter variants with SLE and malaria is lacking in malaria endemic population. A total of 204 female SLE patients and 224 age and sex matched healthy controls were enrolled in the study. Three hundred fourteen P . falciparum infected patients with different clinical phenotypes were included. TNF-α polymorphisms (G-238A & G-308A) were genotyped by PCR-RFLP. Plasma levels of TNF-α was quantified by ELISA. Heterozygous mutants and minor alleles of TNF-α (G-238A and G-308A) polymorphisms were significantly higher in SLE patients compared to healthy controls and associated with development of lupus nephritis. In addition, both promoter variants were associated with severe P . falciparum malaria. SLE patients demonstrated higher levels of plasma TNF-α compared to healthy controls. TNF-α (G-238A and G-308A) variants were associated with higher plasma TNF-α. In conclusion, TNF-α (G-238A & G-308A) variants are associated with higher plasma TNF-α levels in SLE patients residing in malaria endemic areas and could be a contributing factor in the development of SLE and susceptibility to severe P . falciparum malaria.

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“…In recent years, the relationship between CTLA4 polymorphisms and some diseases such as Graves' disease and hepatocellular carcinoma has attracted extensive attention [13,14]. Previous studies indicated that CTLA4 polymorphisms were closely related to various autoimmune diseases such as idiopathic dilated cardiomyopathy and lupus erythematous as well as thyroid diseases [15,16]. In addition, T (-) in CD28 + 17 (T/C) and A (+) in CTLA4 +49 (A/G) genotypes are associated with susceptibility to aggressive periodontal disease and CTLA4 gene variants might be associated with susceptibility to a specific form of periodontitis [17].…”

Section: Introductionmentioning

confidence: 99%

Functional Polymorphisms of CTLA4 Associated with Aggressive Periodontitis in the Chinese Han Population

Zhou

Wang

et al. 2018

Cell Physiol Biochem

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Background/Aims: CTLA4 has been identified functioning as a protein receptor which functions as an immune checkpoint, downregulating the immune system. Susceptibility to aggressive periodontitis (AgP) is influenced by gene polymorphisms related to the immune response. In this study, we focused on SNPs in the 3’-UTR of CTLA4 among Chinese AgP patients, and investigated any further relationships between the SNPs and miRNAs. Methods: This case–control study included 120 AgP patients and 150 healthy controls. Genotyping was used to detect allele distribution. Cell transfection and the dual luciferase reporter assay were performed to investigate the potential functions of SNPs located in the 3’UTR of CTLA4. Results: The data show that patients with a history of smoking were more susceptible compared to controls, exhibiting deeper probing depth, greater attachment loss and more sites of bleeding on probing. The results of genotyping analysis revealed that individuals with the GA and AA genotypes, and with the A carrier had a decreased risk (P = 0.015, P = 0.03). Furthermore, patients with the G allele might be regulated by miR-105, which caused a down-regulation of CTLA4. The carriers of the GG genotype exhibited the worst results of attachment loss and bleeding on probing. Conclusion: These findings show that rs56102377 in the 3’-UTR of CTLA4 may act as a protective factor by disrupting the regulatory role of miR-105 in CTLA4 expression. Thus, our study highlighted a potential role of these polymorphisms as genetic susceptibility biomarkers of periodontitis in Chinese Han populations.

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Association of CTLA4 exon-1 polymorphism with the tumor necrosis factor-α in the risk of systemic lupus erythematosus among South Indians

Cited by 16 publications

References 45 publications

PTPN22, CTLA4, FcγRIIa, FcγRIIIa and FcγRIIIb polymorphisms in Tunisian patients with systemic lupus erythematosus

PTPN22, CTLA4, FcγRIIa, FcγRIIIa and FcγRIIIb polymorphisms in Tunisian patients with systemic lupus erythematosus

TNF-α promoter polymorphisms (G-238A and G-308A) are associated with susceptibility to Systemic Lupus Erythematosus (SLE) and P. falciparum malaria: a study in malaria endemic area

Functional Polymorphisms of CTLA4 Associated with Aggressive Periodontitis in the Chinese Han Population

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