Analysis of the rs13306560 functional variant in the promoter region of the MTHFR gene in sporadic Parkinson's disease

作者：Garcia Silvia; Javier Cano Martinez Luis; Mauricio Coral Vazquez Ramn; Coronel Perez Agustin; Gomez Diaz Benjamin; Gabriel Toledo Lozano Christian; Patricia Gallegos Arreola Martha; Davila Maldonado Luis; Adei Jimenez Hernandez Dulce; Lizeth Alcaraz Estrada Sofia; Berenice Lopez Hernandez Luz

来源：Neuroendocrinology Letters, 2017, 38(4): 257-260.

• rs13306560
• MTHFR
• Parkinson's disease
• methionine
• Mexico

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 (beta)= 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.

• 出版日期2017
• 单位河北医科大学