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

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 ◽  
...  

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.

Lupus ◽  
2018 ◽  
Vol 27 (12) ◽  
pp. 1973-1979 ◽  
Author(s):  
V Gupta ◽  
S Kumar ◽  
A Pratap ◽  
R Singh ◽  
R Kumari ◽  
...  

Several susceptibility genes have been associated with systemic lupus erythematosus (SLE) across different populations worldwide. However, data on association between genetic polymorphisms and SLE from Indian population is scarce. We aimed to replicate the association of single nucleotide polymorphisms (SNPs) in ITGAM, TNFSF4, TNFAIP3 and STAT4 genes with susceptibility to SLE in a North Indian population. Three hundred and ninety-four SLE patients and 583 unrelated healthy controls of the same ethnic background were enrolled. All samples were genotyped for SNPs in ITGAM (rs1143679), TNFSF4 (rs2205960), TNFAIP3 (rs5029939) and STAT4 (rs7574865) using TaqMan genotyping assay. At allele level, significant association with susceptibility to SLE was detected with polymorphisms in ITGAM (A vs. G, odds ratio (OR) = 1.73, 95% confidence interval (CI) = 1.30–2.30, p < 0.001), TNFSF4 (T vs. G, OR = 1.33, 95% CI = 1.08–1.64, p < 0.01), TNFAIP3 (G vs. C, OR = 1.91, 95% CI = 1.27–2.85, p < 0.01) and STAT4 (T vs. G, OR = 1.38, 95% CI = 1.13–1.69, p < 0.01). All four SNPs were associated with SLE under a dominant model with an OR of 1.47 (95% CI = 1.07–2.04, p < 0.05) for ITGAM, 1.30 (95% CI = 1.01–1.69, p < 0.05) for TNFSF4, 1.90 (95% CI = 1.25–2.90, p < 0.01) for TNFAIP3 and 1.38 (95% CI = 1.06–1.78, p < 0.05) for STAT4. Under a recessive model, significant association was found with ITGAM (OR = 4.87, 95% CI = 2.17–10.91, p < 0.001), TNFSF4 (OR = 1.84, 95% CI = 1.13–3.00, p < 0.05) and STAT4 (OR = 1.82, 95% CI = 1.19–2.77, p < 0.01). In conclusion, single nucleotide polymorphisms in ITGAM, TNFSF4, TNFAIP3 and STAT4 genes are associated with susceptibility to SLE in a North Indian population.


Lupus ◽  
2012 ◽  
Vol 21 (6) ◽  
pp. 625-631 ◽  
Author(s):  
P Sandrin-Garcia ◽  
LAC Brandão ◽  
RL Guimarães ◽  
JAT Pancoto ◽  
EA Donadi ◽  
...  

Lupus ◽  
2021 ◽  
pp. 096120332110403
Author(s):  
Yan-Mei Mao ◽  
Yi-Sheng He ◽  
Guo-Cui Wu ◽  
Yu-Qian Hu ◽  
Kun Xiang ◽  
...  

Background: Abnormal expression and function of long non-coding RNAs (lncRNAs) are closely related to the pathogenesis of systemic lupus erythematosus (SLE). In this study, we aimed to investigate the association of lncRNA metastasis-associated lung adenocarcinoma transcript 1 (MALAT-1) gene single-nucleotide polymorphisms (SNPs) with susceptibility and clinical characteristics of SLE patients. Methods: A case-control study including 489 SLE patients and 492 healthy controls was conducted. Four MALAT-1 SNPs (rs4102217, rs591291, rs11227209, and rs619586) were genotyped in all subjects, their correlation with SLE susceptibility and clinical characteristics were also analyzed. Results: Results showed that the rs4102217 locus was associated with the risk of SLE. In recessive models, the GG+CG genotype of rs4102217 was associated with the decreased risk of SLE compared to CC ( p = 0.036, OR = 0.348, 95% CI: 0.124–0.975). In additive models, the GG genotype of rs4102217 was associated with the decreased risk of SLE compared to CC ( p = 0.040, OR = 0.355, 95% CI: 0.127–0.996). However, no association was found between MALAT-1 gene polymorphism and clinical manifestations of SLE (all p > 0.05). Conclusion: In summary, MALAT-1 rs4102217 is associated with susceptibility to SLE, suggesting that MALAT-1 may play a role in SLE.


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