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.
Highlights
Systemic lupus erythematosus (SLE) is a multisystemic autoimmune disease causing significant morbidity and mortality worldwide, in women of child‐bearing age
We investigated the polymorphisms of Toll-like receptor 9 (TLR9) single nucleotide polymorphisms (SNPs) (−1237 C>T and +2848 A>G) in a group of Brazilian SLE patients and studied their association with clinical manifestations of the disease— Jaccoud’s arthropathy (JA)
Researchers have tried to identify whether genetic polymorphisms are associated with lupus susceptibility; they have obtained inconsistent results even though such studies were performed in populations with different genetic backgrounds (Lee et al, 2016; Yusuf et al, 2017)
Summary
Systemic lupus erythematosus (SLE) is a multisystemic autoimmune disease causing significant morbidity and mortality worldwide, in women of child‐bearing age. The disease is secondary to loss of self‐tolerance, and is characterized by a massive production of autoantibodies against a wide range of different types of cellular and serum components (Mak and Kow, 2014; Mok and Lau, 2003). Clinical manifestation in SLE varies from mild arthritis and cutaneous rashes to potentially fatal complications involving the central nervous. Articular manifestations appear in the majority of the patients and approximately 5% of them develop a deforming arthropathy, which is well known as Jaccoud’s arthropathy (JA)—the etiopathogenic mechanisms of which are not yet defined (Santiago, 2011)
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