Toll-like receptor 9 polymorphisms in brazilian patients with systemic lupus erythematosus: a pilot study

Abstract Toll-like receptor 9 (TLR9) is an important component of the innate immune system and have been associated with several autoimmune diseases, such as Systemic Lupus Erythematosus (SLE). The aim of this study was to investigate polymorphisms in TLR9 gene in a Brazilian SLE patients group and their association with clinical manifestation, particularly Jaccoud’s arthropathy (JA). We analyzed DNA samples from 204 SLE patients, having a subgroup of them presenting JA (n=24). A control group (n=133) from the same city was also included. TLR9 single nucleotide polymorphisms (SNPs) (−1237 C>T and +2848 G>A) were identified by sequencing analysis. The TLR9 gene genotype frequency was similar both in SLE patients and the control group. In the whole SLE population, an association between the homozygosis of allele C at position −1237 with psychosis and anemia (p < 0.01) was found. Likewise, the homozygosis of allele G at position +2848 was associated with a discoid rash (p < 0.05). There was no association between JA and TLR9 polymorphisms. These data show that TLR9 polymorphisms do not seem to be a predisposing factor for SLE in the Brazilian population, and that SNPs are not associated with JA.

Download Full-text

Toll-like receptor 5 and Toll-like receptor 9 single nucleotide polymorphisms and risk of systemic lupus erythematosus and nephritis in Egyptian patients

Egyptian Rheumatology and Rehabilitation ◽

10.1186/s43166-021-00093-y ◽

2021 ◽

Vol 48 (1) ◽

Author(s):

Ola Mohammad Gharbia ◽

Sherine Abdel Rahman Bassiouni ◽

Maysaa El Sayed Zaki ◽

Shimaa Mohsen El-Beah ◽

Manal Mohamed El-Desoky ◽

...

Keyword(s):

Systemic Lupus Erythematosus ◽

Single Nucleotide Polymorphisms ◽

Lupus Erythematosus ◽

Recessive Model ◽

Nucleotide Polymorphisms ◽

Toll Like Receptor ◽

Systemic Lupus ◽

Single Nucleotide ◽

Egyptian Patients ◽

Toll Like Receptor 5

Abstract Background Toll-like (TLRs) play a crucial role in both adaptive and innate immunity. The aim of the present study was to assess the association of TLR5-rs5744168, TLR9-rs187084, and TLR9-rs352140 single nucleotide polymorphisms (SNPs) with susceptibility to systemic lupus erythematosus (SLE) and lupus nephritis (LN) in Egyptian patients. Results The C allele and homozygous CC genotype of the TLR9-rs352140 in co-dominant and recessive models were more prevalent in SLE patients than controls (P = 0.047, P = 0.017, and P = 0.005 respectively). In contrast, allelic and genotyping distribution of TLR5-rs5744168 and TLR9-rs187084 SNPs showed no association with the risk of SLE. The T allele of the TLR5-rs5744168 was more prevalent in LN patients than controls (P = 0.021). The homozygous TT genotype of TLR5-rs5744168 SNP was more prevalent in LN patients in the co-dominant and the recessive models than controls (P = 0.036 and P = 0.011 respectively). The C allele of the TLR9-rs352140 was more prevalent in LN patients than controls (P = 0.015). The homozygous CC genotype of the TLR9-rs352140 SNP was more prevalent in LN than controls in co-dominant and recessive models (P = 0.002 and P < 0.001). In the recessive model of the TLR5-rs5744168 SNP, the TT genotype was found in 3.2% of the SLE patients while none of the SLE patients without LN or controls had TT genotype (P = 0.036). Also, in the recessive model of the TLR9-rs352140 SNP, the CC genotype was significantly more frequent in SLE patients with LN than without LN (44.4% vs 29.9%, P = 0.045). Conclusion Our results support the potential role of TLR5-rs5744168 SNP and TLR9-rs3532140 SNP not only in increasing the risk for development of SLE, but also in increasing the risk of LN in SLE patients among the Egyptian population.

Download Full-text

Toll-like receptor 7 gene single nucleotide polymorphisms and the risk for systemic lupus erythematosus: a case-control study

Zeitschrift für Rheumatologie ◽

10.1007/s00393-017-0283-7 ◽

2017 ◽

Vol 77 (5) ◽

pp. 416-420 ◽

Cited By ~ 4

Author(s):

I. I. Raafat ◽

N. El Guindy ◽

R. M. H. Shahin ◽

L. A. Samy ◽

R. M. El Refai

Keyword(s):

Systemic Lupus Erythematosus ◽

Single Nucleotide Polymorphisms ◽

Lupus Erythematosus ◽

Case Control Study ◽

Case Control ◽

Nucleotide Polymorphisms ◽

Toll Like Receptor ◽

Systemic Lupus ◽

Single Nucleotide ◽

Control Study

Download Full-text

Association study of a single nucleotide polymorphism in the exon 2 region of toll-like receptor 9 (TLR9) gene with susceptibility to systemic lupus erythematosus among Chinese

Molecular Biology Reports ◽

10.1007/s11033-008-9440-z ◽

2009 ◽

Vol 36 (8) ◽

pp. 2245-2248 ◽

Cited By ~ 33

Author(s):

Chang-Juan Xu ◽

Wen-Hui Zhang ◽

Hai-Feng Pan ◽

Xiang-Pei Li ◽

Jian-Hua Xu ◽

...

Keyword(s):

Systemic Lupus Erythematosus ◽

Single Nucleotide Polymorphism ◽

Association Study ◽

Lupus Erythematosus ◽

Toll Like Receptor ◽

Nucleotide Polymorphism ◽

Systemic Lupus ◽

Single Nucleotide ◽

Exon 2 ◽

Tlr9 Gene

Download Full-text

Polymorphisms of the toll-like receptor 9 (TLR9) gene with systemic lupus erythematosus in Chinese

Rheumatology ◽

10.1093/rheumatology/kei120 ◽

2005 ◽

Vol 44 (11) ◽

pp. 1456-1457 ◽

Cited By ~ 36

Author(s):

M. W. Ng ◽

C. S. Lau ◽

T. M. Chan ◽

W. H. S. Wong ◽

Y. L. Lau

Keyword(s):

Systemic Lupus Erythematosus ◽

Lupus Erythematosus ◽

Toll Like Receptor ◽

Systemic Lupus ◽

Tlr9 Gene

Download Full-text

Association of interleukin-2 and interferon-γ single nucleotide polymorphisms with Juvenile systemic lupus erythematosus

Allergologia et Immunopathologia ◽

10.1016/j.aller.2015.12.005 ◽

2016 ◽

Vol 44 (5) ◽

pp. 422-426 ◽

Cited By ~ 5

Author(s):

S. Harsini ◽

V. Ziaee ◽

F. Tahghighi ◽

M. Mahmoudi ◽

A. Rezaei ◽

...

Keyword(s):

Systemic Lupus Erythematosus ◽

Single Nucleotide Polymorphisms ◽

Lupus Erythematosus ◽

Interleukin 2 ◽

Interferon Γ ◽

Nucleotide Polymorphisms ◽

Systemic Lupus ◽

Juvenile Systemic Lupus Erythematosus ◽

Single Nucleotide

Download Full-text

A case of generalized pustular psoriasis caused by hydroxychloroquine in a patient with systemic lupus erythematosus

Lupus ◽

10.1177/0961203319854139 ◽

2019 ◽

Vol 28 (8) ◽

pp. 1017-1020 ◽

Cited By ~ 5

Author(s):

E Shindo ◽

K Shikano ◽

M Kawazoe ◽

T Yamamoto ◽

N Kusunoki ◽

...

Keyword(s):

Systemic Lupus Erythematosus ◽

Lupus Erythematosus ◽

Neutrophil Infiltration ◽

Pustular Psoriasis ◽

Nucleotide Polymorphisms ◽

Systemic Lupus ◽

Single Nucleotide ◽

Potential Development ◽

Generalized Pustular Psoriasis ◽

The Face

Hydroxychloroquine (HCQ) has been used to treat systemic lupus erythematosus (SLE) in Japan since 2015. We herein report a case of SLE that developed generalized pustular psoriasis (GPP) following the administration of HCQ. Twenty-one days after the HCQ treatment, a pustular rash with itching appeared on the auricle, scalp, and forearm, and spread rapidly to the face and body trunk with a high fever and arthralgia. Skin biopsy showed pustule formation under the cornified layer, neutrophil infiltration, the destruction of keratinocytes, and spongiform pustules of Kogoj. The patient was diagnosed with GPP. HCQ was immediately discontinued, the dose of prednisolone (PSL) was increased, and granulocyte and monocyte adsorption apheresis was performed. Her symptoms subsequently disappeared. Since arthralgia relapsed after the tapering of PSL, cyclosporine was added. Although single nucleotide polymorphisms (c.28C>T and c.115+6T>C) in the interleukin (IL)-36RN gene, which encodes the IL-36 receptor antagonist, have frequently been reported in GPP, these mutations were not observed in the present case. The potential development of GPP needs to be considered when administering HCQ to patients with SLE.

Download Full-text