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Genetic Variants of the Receptor Activator Nuclear of κB Ligand Gene Increase the Risk of Rheumatoid Arthritis in a Mexican Mestizo Population: A Case-Control Study.
Arturo, Nava-Valdivia Cesar; Ivan, Gamez-Nava Jorge; Betsabe, Contreras-Haro; Emilio, Perez-Guerrero Edsaul; Yussef, Esparza-Guerrero; Alejandra, Rodriguez-Jimenez Norma; Tonatiuh, Gonzalez-Heredia; Alejandra, Villagomez-Vega; Ismael, Nuño-Arana; Elena, Totsuka-Sutto Sylvia; Manuel, Ponce-Guarneros Juan; Heriberto, Jacobo-Cuevas; Gerardo, Alvarez-Ayala Efren; Laura, Gonzalez-Lopez; Miriam, Saldaña-Cruz Ana.
Afiliação
  • Arturo NC; Departamento de Microbiología y Patología, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, Mexico.
  • Ivan GJ; Programa de Doctorado en Farmacología, Departamento de Fisiología, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, Mexico.
  • Betsabe CH; Instituto de Terapéutica Experimental y Clínica, Departamento de Fisiología, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, Mexico.
  • Emilio PE; Unidad de Investigación Biomédica 02, UMAE, Hospital de Especialidades, Centro Médico Nacional de Occidente, IMSS, Guadalajara 44349, Mexico.
  • Yussef EG; Departamento de Ciencias Biomédicas, Centro Universitario de Tonalá, Universidad de Guadalajara, Guadalajara 45400, Mexico.
  • Alejandra RN; Instituto de Investigación en Ciencias Biomédicas, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, Mexico.
  • Tonatiuh GH; Programa de Doctorado en Farmacología, Departamento de Fisiología, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, Mexico.
  • Alejandra VV; Instituto de Terapéutica Experimental y Clínica, Departamento de Fisiología, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, Mexico.
  • Ismael NA; Unidad de Investigación Biomédica 02, UMAE, Hospital de Especialidades, Centro Médico Nacional de Occidente, IMSS, Guadalajara 44349, Mexico.
  • Elena TS; Departamento de Ciencias Biomédicas, Centro Universitario de Tonalá, Universidad de Guadalajara, Guadalajara 45400, Mexico.
  • Manuel PJ; Departamento de Ciencias Biomédicas, Centro Universitario de Tonalá, Universidad de Guadalajara, Guadalajara 45400, Mexico.
  • Heriberto JC; Instituto de Terapéutica Experimental y Clínica, Departamento de Fisiología, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, Mexico.
  • Gerardo AE; Instituto de Terapéutica Experimental y Clínica, Departamento de Fisiología, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, Mexico.
  • Laura GL; Instituto de Terapéutica Experimental y Clínica, Departamento de Fisiología, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, Mexico.
  • Miriam SA; Programa de Doctorado en Farmacología, Departamento de Fisiología, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara 44340, Mexico.
Genes (Basel) ; 15(7)2024 Jul 11.
Article em En | MEDLINE | ID: mdl-39062686
ABSTRACT
The Receptor Activator Nuclear of κB Ligand (RANKL) plays an important function in immune responses, activating osteoclast cells and unchanged bone resorption, which in turn leads to bone erosion and inflammation. Genetic variants in the promoter region of the RANKL gene could lead to a higher risk of rheumatoid arthritis (RA).

OBJECTIVE:

To assess the association of rs9533155 (-693C>G) and rs9533156 (-643T>C) genetic variants with RA risk.

METHODS:

A case-control study was carried out. A total of 94 patients with RA (RA group) and 134 subjects without any rheumatologic disease (control group) were included. Genetic DNA was extracted from peripheral white blood cells (leukocytes). Genetic variant rs9533155 (-693C>G) was screened by an approach based on Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP), while rs9533156 (-643T>C) was screened using quantitative polymerase chain reaction (qPCR) with TaqMan probes. RANKL serum levels were measured by ELISA.

RESULTS:

For rs9533155 (-693C>G), the polymorphic homozygous genotype frequencies (CC) were higher in the RA group (p = 0.006). Individuals carrying the risk genotype presented higher levels of serum RANKL. Carriers of the polymorphic homozygous genotype in the dominant model (CC vs. CG + GG) had an increased risk of developing RA (OR 1.8, 95% CI 1.04 to 3.1). No association between rs9533156 (-643T>C) and the haplotypes with RA risk was observed.

CONCLUSION:

The rs9533155 (-693C>G) genetic variant exhibits a potential role in RA risk. The studied population had no association with the rs9533156 (-643T>C) genetic variant.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Artrite Reumatoide / Predisposição Genética para Doença / Polimorfismo de Nucleotídeo Único / Ligante RANK Limite: Adult / Aged / Female / Humans / Male / Middle aged País/Região como assunto: Mexico Idioma: En Revista: Genes (Basel) Ano de publicação: 2024 Tipo de documento: Article País de afiliação: México País de publicação: Suíça

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Artrite Reumatoide / Predisposição Genética para Doença / Polimorfismo de Nucleotídeo Único / Ligante RANK Limite: Adult / Aged / Female / Humans / Male / Middle aged País/Região como assunto: Mexico Idioma: En Revista: Genes (Basel) Ano de publicação: 2024 Tipo de documento: Article País de afiliação: México País de publicação: Suíça