MTHFR C677T, MTHFR A1298C, and OPG A163G polymorphisms in Mexican patients with rheumatoid arthritis and osteoporosis

Article type: Research Article

Authors: Brambila-Tapia, Aniel Jessica Leticia | Durán-González, Jorge | Sandoval-Ramírez, Lucila | Mena, Juan Pablo | Salazar-Páramo, Mario | Gámez-Nava, Jorge Iván | González-López, Laura | Lazalde-Medina B, Brissia | Dávalos, Nory Omayra | Peralta-Leal, Valeria | del Mercado, Mónica Vázquez | Beltrán-Miranda, Claudia Patricia | Dávalos, Ingrid Patricia

Affiliations: Doctorado en Genética Humana, Instituto de Genética Humana, CUCS, Universidad de Guadalajara and División de Genética, CIBO, Instituto Mexicano del Seguro Social (IMSS), Jalisco, México | División de Investigación, UMAE, HE. CMNO, IMSS and CUCS, Universidad de Guadalajara, Jalisco, México | Servicio de Reumatología, Hospital General Regional No. 110, IMSS, Jalisco, México | Facultad de Medicina, Universidad Juárez del Estado de Durango, Jalisco, México | IIRSME, CUCS, Universidad de Guadalajara, Jalisco, México | Laboratorio de Biología Molecular e Inmunología, CUSUR, Universidad de Guadalajara, Jalisco, México

Note: [] Corresponding author: Ingrid Patricia Dávalos MD, PhD, CIBO, IMSS, Doctorado en Genética Humana, IGH, CUCS, Universidad de, Guadalajara. Sierra Mojada #800, Colonia Independencia, Guadalajara, Jalisco, México. C.P.44340. Tel.: +33 36189410; E-mail: ingriddavalos@hotmail.com

Abstract: MTHFR polymorphisms C677T and A1298C are associated with reduced MTHFR enzyme activity and hyperhomocysteinemia, which has been associated with osteoporosis. The A163G polymorphism in osteoprotegerin (OPG) has been studied in osteoporosis with controversial results. The objective of the present study was to investigate the association(s) among MTHFR C677T, MTHFR A1298C, and OPG A163G polymorphisms in Mexican patients with rheumatoid arthritis and osteoporosis. The femoral neck and lumbar spine bone mineral densities (BMDs) were measured in 71 RA patients, and genotyping for the three polymorphisms was performed via restriction fragment length polymorphism analysis. Patients with osteoporosis/osteopenia exhibited statistically significant differences in the genotype frequencies of MTHFR C677T as well as an association with femoral neck BMD; TT homozygotes had lower BMDs than patients with the CT genotype, and both of these groups had lower BMDs than patients with the CC genotype. The associations of the MTHFR C677T polymorphism with osteoporosis/osteopenia and femoral neck BMD suggest that these polymorphisms confer a risk of developing osteoporosis in patients with rheumatoid arthritis, a risk that may be reduced with folate and B complex supplementation.

Keywords: MTHFR C677T, MTHFR A1298C, OPG A163G, polymorphisms, osteoporosis, rheumatoid arthritis

DOI: 10.3233/DMA-2011-0868

Journal: Disease Markers, vol. 32, no. 2, pp. 109-114, 2012