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. 2023 Aug;23(4):1349-1357.
doi: 10.1007/s10238-022-00966-2. Epub 2022 Dec 4.

TGFB1 mRNA expression and frequency of the + 869T>C and + 915G>C genetic variants: impact on risk for systemic sclerosis

José Alvaro Lomeli-Nieto  1 , José Francisco Muñoz-Valle  1 , José Eduardo Navarro-Zarza  2 , Christian Johana Baños-Hernández  1 , Samuel García-Arellano  1 , Anabell Alvarado-Navarro  3 , Brian Uriel Anaya-Macías  1 , Edith Oregón-Romero  1 , Carlos Eduardo Fuentes-Baez  1 , Isela Parra-Rojas  4 , Jorge Hernández-Bello  5
Affiliations

TGFB1 mRNA expression and frequency of the + 869T>C and + 915G>C genetic variants: impact on risk for systemic sclerosis

José Alvaro Lomeli-Nieto et al. Clin Exp Med. 2023 Aug.

Abstract

Systemic Sclerosis (SSc) is a chronic autoimmune disease characterized by immune disorder, microvascular damage, and fibrosis. TGFB1 gene encodes for the transforming growth factor isoform 1 (TGF-β1), one of the most important pro-fibrotic cytokines. Therefore, variants in TGFB1 and changes in its expression could be associated with the pathogenesis of SSc. We aimed to evaluate the association of TGFB1 variants (+ 869T>C [rs1982073] and + 915G > C [rs1800471]) with the TGFB1 mRNA expression and SSc risk in the Southern Mexican population. We included 56 SSc patients and 112 control subjects (CS). The genetic variants were determined by the PCR-RFLP method. The TGFB1 mRNA expression was determined by qPCR. For the + 869T>C variant, the C allele was associated with SSc risk (OR = 1.733; CI = 1.087-2.762; p = 0.020). The C allele for the + 915G>C variant was also associated with SSc risk (OR = 11.168; CI = 1.289-96.754; p = 0.023). The relative expression of TGFB1 mRNA was 1.77-fold lower in SSc patients than in CS. Carriers of polymorphic alleles (TC or CC genotypes) for the + 869T>C variant showed 3.7-fold lower mRNA expression than the TT genotype in patients and 4.81-fold lower in CS. For the + 915G>C variant, patients with GA genotype had 1.78-fold lower mRNA expression than GG genotype carriers. In conclusion, the present study showed that + 869T>C and + 915G>C variants could be SSc risk factors for patients from Southern Mexico, and these genetic variants could induce lower mRNA expression of TGFB1.

Keywords: Signal peptide variants; Systemic sclerosis; TGF-β1; TGFB1 gene variants; TGFB1 mRNA expression.

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