Association between the missense alcohol dehydrogenase rs1229984T variant with the risk for Parkinson’s disease in women View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2019-02

AUTHORS

Elena García-Martín, Mónica Diez-Fairen, Pau Pastor, Javier Gómez-Tabales, Hortensia Alonso-Navarro, Ignacio Alvarez, María Cárcel, Miquel Aguilar, José A. G. Agúndez, Félix Javier Jiménez-Jiménez

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. More... »

PAGES

1-7

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s00415-018-9136-9

DOI

http://dx.doi.org/10.1007/s00415-018-9136-9

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1110226553

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/30483881


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Download the RDF metadata as:  json-ld nt turtle xml License info

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