Analysis of single nucleotide polymorphisms encompassing toll like receptor (TLR) -7 (rs179008) and (TLR)-9 (rs352140) in systemic lupus erythematosus patients

Muhammad Adil Bashir, Nadeem Afzal, Hamdan Hamid, Muhammad Kashif, Alishba Niaz, Shah Jahan


Background: Multiple documentary evidence comprising genome wide association studies have established association of TLR7 and TLR9 gene polymorphisms with systemic lupus erythematosus (SLE). Present study was aimed to deduce and compare single nucleotide polymorphism (SNP) in TLR7 (rs179008) and TLR9 (rs352140) genes between local population of SLE patients and healthy controls.

Methods: A case control study; blood samples from 80 controls (Group1) and 80 SLE subjects (Group2) were collected in EDTA tubes and processed for the analysis of gene polymorphism of TLR7 (rs179008) and TLR9 (rs352140) by PCR-RFLP after DNA extraction. Complete blood counts were also determined. Statistical analysis was carried out using Chi-square test for SNPs analysis and allele frequencies between two groups. TLR 7 and TLR 9 genes polymorphism with SLE alongside clinical parameters were assessed.

Results: Genotypes of TLR7, AT and TT are not significantly associated with SLE. Whereas, TLR9 CT and TT genotypes, especially T allele are significantly associated with SLE reflecting noticeable interdependence of TLR9 gene polymorphism with respect to SLE subjects.

Conclusion: TLR9 (rs352140) gene variation might be a key factor to etiology and pathogenesis of SLE.

Keywords: Toll-like receptors; Restriction site; Single nucleotide polymorphism; Systemic lupus erythematosus

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