TY - JOUR
T1 - Analysis of the rs13306560 functional variant in the promoter region of the MTHFR gene in sporadic Parkinson´s disease
AU - García, Silvia
AU - Cano-Martínez, Luis Javier
AU - Coral-Vázquez, Ramón Mauricio
AU - Coronel-Perez, Agustín
AU - Gómez-Díaz, Benjamín
AU - Toledo-Lozano, Christian Gabriel
AU - Gallegos-Arreola, Martha Patricia
AU - Dávila-Maldonado, Luis
AU - Jimenez-Hernández, Dulce Adeí
AU - Alcaraz-Estrada, Sofía Lizeth
AU - López-Hernández, Luz Berenice
PY - 2017/8/1
Y1 - 2017/8/1
N2 - OBJECTIVE: Among susceptibility genes for Sporadic Parkinson´s Disease (SPD), the MTHFR gene has been suggested as candidate. The A allele of the functional variant rs13306560 in its promoter region has been liked to decreased transactivation capacity. Therefore, we sought to determine a possible association of the rs13306560 and SPD.METHODS: In total, 237 individuals were genotyped, 113 patients with SPD diagnosed according to the Queen Square Brain Bank criteria and 124 neurologically healthy controls. Genotyping was performed using TaqMan probes for the rs13306560 and real-time PCR.RESULTS: The A allelle was associated to protection in SPD, under the dominant model, (OR=0.22, C.I.=[0.048-1.080], p=0.04), nevertheless, after logistic regression analysis with adjustment for gender, resulted only in a trend (Exp (β)=0.211, [I.C. 95.0%, 0.042-1.057], p=0.058).CONCLUSION: Although further studies are needed, our data suggest an important role of the MTHFR gene variants in the fine-tuning regulation of one-carbon metabolism in the brain.
AB - OBJECTIVE: Among susceptibility genes for Sporadic Parkinson´s Disease (SPD), the MTHFR gene has been suggested as candidate. The A allele of the functional variant rs13306560 in its promoter region has been liked to decreased transactivation capacity. Therefore, we sought to determine a possible association of the rs13306560 and SPD.METHODS: In total, 237 individuals were genotyped, 113 patients with SPD diagnosed according to the Queen Square Brain Bank criteria and 124 neurologically healthy controls. Genotyping was performed using TaqMan probes for the rs13306560 and real-time PCR.RESULTS: The A allelle was associated to protection in SPD, under the dominant model, (OR=0.22, C.I.=[0.048-1.080], p=0.04), nevertheless, after logistic regression analysis with adjustment for gender, resulted only in a trend (Exp (β)=0.211, [I.C. 95.0%, 0.042-1.057], p=0.058).CONCLUSION: Although further studies are needed, our data suggest an important role of the MTHFR gene variants in the fine-tuning regulation of one-carbon metabolism in the brain.
UR - http://www.scopus.com/inward/record.url?scp=85050876291&partnerID=8YFLogxK
M3 - Artículo
SN - 0172-780X
VL - 38
SP - 257
EP - 260
JO - Neuroendocrinology Letters
JF - Neuroendocrinology Letters
IS - 4
ER -