Please use this identifier to cite or link to this item: http://hdl.handle.net/10662/20340
Title: Association between the missense alcohol dehydrogenase rs1229984T variant with the risk for Parkinson's disease in women
Authors: García Martín, Elena
Diez Fairen, Mónica
Pastor Muñoz, Pau
Gómez Tabales, Javier
Alonso Navarro, Hortensia
Álvarez Miguel, Ignacio Santiago
Cárcel, María
Aguilar, Miquel
García-Agúndez Pérez-Coca, José Augusto
Jiménez Jiménez, Félix Javier
Keywords: ADH1B gene · Genetics · Polymorphisms · Parkinson’s disease · Risk factors
Issue Date: 2019
Publisher: SpringerLink
Abstract: Background/objective Several meta-analyses including retrospective case–control studies have shown that the risk of developing Parkinson’s disease (PD) correlates inversely with alcohol consumption and (PD), although the results of prospective longitudinal studies are far from being conclusive. The reasons for this inverse association are not well-known. Because alcohol dehydrogenase is one of the most important alcohol-detoxification enzymes, we tried to replicate a putative association of the risk of developing PD with two missense gene variations affecting the alcohol dehydrogenase 1B (ADH1B) gene (one of them related with aversive effects to alcohol). Methods In a cohort composed of 629 PD patients and 865 age- and gender-matched healthy individuals, we analyzed genotypes and allele frequencies for two common missense ADH1B single nucleotide polymorphisms (SNPs), namely rs1229984 (His48Arg) and rs6413413 (Thr60Ser) using specifically designed TaqMan assays. Results The frequency of individuals carrying rs1229984T alleles in homozygosity or in heterozygosity was higher in PD than in controls in the whole study cohort (P<0.001 and P=0.005, respectively), and in women (P<0.001 and P<0.001, respectively). The genotypes for rs6413413 were similar in PD patients and control subjects. Age at onset of PD patients was not statistically related to rs1229984 or rs6413413 genotypes. Conclusions The missense variant rs1229984T is statistically associated with the risk of developing PD mainly in women, which could explain differences in alcohol consumption in this gender
URI: http://hdl.handle.net/10662/20340
ISSN: 0340-5354
1432-1459
DOI: 10.1007/s00415-018-9136-9
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