Journal of Neurology

, Volume 266, Issue 2, pp 346–352 | Cite as

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

  • 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-JiménezEmail author
Original Communication



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).


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.


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.


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.


ADH1B gene Genetics Polymorphisms Parkinson’s disease Risk factors 



This work was supported in part by Grants RETICS RD16/0006/0004 (ARADyAL) and PI15/00303 and from Fondo de Investigación Sanitaria, Instituto de Salud Carlos III, Madrid, Spain and GR18145 and IB16170 from Junta de Extremadura, Mérida, Spain and by Grants from the Spanish Ministry of Science and Innovation SAF2006-10126 (2006–2009) and SAF2010-22329-C02-01 (2011–2013) to P. P. and by the “Unión Técnica de Empresas” (UTE) project FIMA to P. P. and project from the Centro de Investigaciones Médicas Aplicadas (CIMA), Spain. Partially funded with FEDER funds.

Compliance with ethical standards

Conflicts of interest

All authors declare that they have no conflicts of interests.

Ethical standards

The study was approved by the corresponding ethics committees of the hospitals involved. Specifically, the Ethic Committees of Clinical Investigation of the Clínica Universitaria de Navarra (Pamplona, Spain), the Hospital Universitari Mutua de Terrassa (Terrassa, Barcelona, Spain), and the Infanta Cristina University Hospital (Badajoz, Spain). Written informed consent was obtained from all the participants before study enrollment.

Data accessibility statement

All data related to the current study, intended for reasonable use, is available from J.A.G. Agúndez (University Institute of Molecular Pathology Biomarkers, University of Extremadura -UNEx ARADyAL Instituto de Salud Carlos III, Av/ de la Universidad S/N, E10071 Cáceres. Spain) and F.J. Jiménez-Jiménez (Section of Neurology, Hospital del Sureste, Arganda del Rey, Madrid, Spain).


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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2018

Authors and Affiliations

  • Elena García-Martín
    • 1
  • Mónica Diez-Fairen
    • 2
    • 3
  • Pau Pastor
    • 2
    • 3
  • Javier Gómez-Tabales
    • 1
  • Hortensia Alonso-Navarro
    • 4
  • Ignacio Alvarez
    • 2
    • 3
  • María Cárcel
    • 2
    • 3
  • Miquel Aguilar
    • 2
    • 3
  • José A. G. Agúndez
    • 1
  • Félix Javier Jiménez-Jiménez
    • 4
    • 5
    Email author
  1. 1.University Institute of Molecular Pathology Biomarkers, UNEx, ARADyALCáceresSpain
  2. 2.Fundació per la Recerca Biomèdica i Social Mútua de TerrassaTerrassaSpain
  3. 3.Movement Disorders Unit, Department of NeurologyHospital Universitari Mutua de TerrassaTerrassaSpain
  4. 4.Section of NeurologyHospital Universitario del SuresteArganda del ReySpain
  5. 5.Department of Medicine-Neurology, Hospital “Príncipe de Asturias”Universidad de AlcaláAlcalá de HenaresSpain

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