Association of the polymorphisms rs179008 (TLR7), rs2004640 (IRF5), rs1800795 (IL-6) and rs2280788 (CCL5) with systemic lupus erythematosus in women of Mayan ethnicity from Yucatan.

Autor: Nakazawa-Ueji, Yumi Elena, Valencia-Pacheco, Guillermo, González-Herrera, Lizbeth Josefina, Chan-Chalé, Laureano, Velasco-Cárdenas, Rubí Misol-Ha, Carreño-Gonzalez, Martha Julia, Pérez-Mendoza, Gerardo, Amaro-Adrián, Guadalupe Isabel, Rodríguez-Dzul, Edwin Arturo, Quintal-Ortiz, Irma Guadalupe, Angulo-Ramírez, Angélica Vanesa, López-Villanueva, Ricardo Francisco
Zdroj: Nucleosides, Nucleotides & Nucleic Acids; 2024, Vol. 43 Issue 11, p1316-1332, 17p
Abstrakt: Introduction: IFN-α is the main cytokine in SLE, and single nucleotide polymorphisms (SNP) in different genes could induce it. Aim: To determine the association of rs2004640 (IRF5), rs179008 (TLR7), rs1800795 (IL-6) and rs2280788 (CCL5) with SLE in Mexican women with Mayan ethnicity. Methods: DNA and RNA were isolated from the peripheral blood of 110 patients and 200 healthy control subjects. SNP genotyping and gene expression analysis of IRF5, TLR7, IL-6 and IFN-α were determined by real-time PCR and analyzed with SNP Stat, Stata 10.1 and Graph Pad Prism v5. Results: rs2004640, rs179008, and rs1800795 in both groups were according to Hardy-Weinberg equilibrium. Risk alleles rs179008T and rs2004640T frequencies were higher in controls (p = 0.015 and p = 0.028, respectively), whereas rs179008A frequency was higher in patients (p = 0.015). Allelic combination AGT frequency was higher in patients (p = 0.001). IL-6 rs1800795C > G and CCL5 rs2280788G > C frequencies did not show significant differences (p > 0.05), being rs2280788G (CCL5) monomorphic in controls. SLE patients showed higher TLR7, IRF5, IL6, and IFN-α mRNA levels. IRF5 expression was higher in SLE patients homozygous for rs2004640T (IRF5). Conclusion: This work showed the contribution of TLR7 and IRF5 in SLE pathogenesis in Mayan females from Yucatan. [ABSTRACT FROM AUTHOR]
Databáze: Complementary Index