The emerging role of SMPD1 mutations in Parkinson's disease: Implications for future studies.
Identifieur interne : 000502 ( Main/Exploration ); précédent : 000501; suivant : 000503The emerging role of SMPD1 mutations in Parkinson's disease: Implications for future studies.
Auteurs : Ziv Gan-Or [Canada] ; Avi Orr-Urtreger [Israël] ; Roy N. Alcalay [États-Unis] ; Susan Bressman [États-Unis] ; Nir Giladi [Israël] ; Guy A. Rouleau [Canada]Source :
- Parkinsonism & related disorders [ 1873-5126 ] ; 2015.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Sphingomyelin Phosphodiesterase.
- genetics : Genetic Predisposition to Disease, Mutation, Parkinson Disease.
- Female, Humans, Male.
Abstract
Recently, an additional study confirmed the association between SMPD1 mutations and Parkinson's disease (PD). While the first study on SMPD1 and PD suggested that only one SMPD1 mutations is responsible for the association to PD, the recent study argued that all SMPD1 mutations may be associated with an increased risk for PD. Since SMPD1 mutations are being routinely screened in some populations with high carrier frequencies, and since it will be further screened in additional PD populations, it is important to better define the association between SMPD1 and PD. We reanalyzed the data from the recent and previous papers, and we show that the association between SMPD1 and PD is indeed not driven by only one mutation, but it is also not driven by all SMPD1 mutations. In the Ashkenazi-Jewish population, the p.fs330P (OR = 3.03, p = 0.0026) and p.L302P (OR = 9.62, p < 0.0001) are associated with PD, and the p.R496L mutation is not (OR = 0.84, p = 0.71), and similar observation was noted in the Chinese population. Thus, we conclude that similar to the GBA gene where different mutations have differential effects, SMPD1 mutations also have a differential effects on the risk for PD. Future studies should therefore examine the association by mutation and not by accumulative risk of all mutations.
DOI: 10.1016/j.parkreldis.2015.08.018
PubMed: 26320887
Affiliations:
- Canada, Israël, États-Unis
- Québec, État de New York
- Montréal, New York
- Université Columbia, Université McGill
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Electronic address: ziv.gan-or@mail.mcgill.ca.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Montreal Neurological Institute and Hospital, McGill University, Montreal, Quebec, Canada; The Department of Human Genetics, McGill University, Montreal, Quebec, Canada; The Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec</wicri:regionArea><orgName type="university">Université McGill</orgName><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation></author><author><name sortKey="Orr Urtreger, Avi" sort="Orr Urtreger, Avi" uniqKey="Orr Urtreger A" first="Avi" last="Orr-Urtreger">Avi Orr-Urtreger</name><affiliation wicri:level="1"><nlm:affiliation>Sackler Faculty of Medicine, Tel Aviv University, Tel-Aviv, Israel; The Genetic Institute, Tel-Aviv Sourasky Medical Center, Tel-Aviv, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Sackler Faculty of Medicine, Tel Aviv University, Tel-Aviv, Israel; The Genetic Institute, Tel-Aviv Sourasky Medical Center, Tel-Aviv</wicri:regionArea><wicri:noRegion>Tel-Aviv</wicri:noRegion></affiliation></author><author><name sortKey="Alcalay, Roy N" sort="Alcalay, Roy N" uniqKey="Alcalay R" first="Roy N" last="Alcalay">Roy N. Alcalay</name><affiliation wicri:level="4"><nlm:affiliation>The Department of Neurology and Taub Institute for Research on Alzheimer's Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University, New York, NY, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>The Department of Neurology and Taub Institute for Research on Alzheimer's Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University, New York, NY</wicri:regionArea><placeName><region type="state">État de New York</region><settlement type="city">New York</settlement></placeName><orgName type="university">Université Columbia</orgName></affiliation></author><author><name sortKey="Bressman, Susan" sort="Bressman, Susan" uniqKey="Bressman S" first="Susan" last="Bressman">Susan Bressman</name><affiliation wicri:level="2"><nlm:affiliation>The Department of Neurology, Mount Sinai Beth Israel Medical Center, New York, NY, USA.</nlm:affiliation><country xml:lang="fr">États-Unis</country><wicri:regionArea>The Department of Neurology, Mount Sinai Beth Israel Medical Center, New York, NY</wicri:regionArea><placeName><region type="state">État de New York</region></placeName></affiliation></author><author><name sortKey="Giladi, Nir" sort="Giladi, Nir" uniqKey="Giladi N" first="Nir" last="Giladi">Nir Giladi</name><affiliation wicri:level="1"><nlm:affiliation>Sackler Faculty of Medicine, Tel Aviv University, Tel-Aviv, Israel; The Department of Neurology, Tel-Aviv Sourasky Medical Center, Tel-Aviv, Israel.</nlm:affiliation><country xml:lang="fr">Israël</country><wicri:regionArea>Sackler Faculty of Medicine, Tel Aviv University, Tel-Aviv, Israel; The Department of Neurology, Tel-Aviv Sourasky Medical Center, Tel-Aviv</wicri:regionArea><wicri:noRegion>Tel-Aviv</wicri:noRegion></affiliation></author><author><name sortKey="Rouleau, Guy A" sort="Rouleau, Guy A" uniqKey="Rouleau G" first="Guy A" last="Rouleau">Guy A. Rouleau</name><affiliation wicri:level="4"><nlm:affiliation>Montreal Neurological Institute and Hospital, McGill University, Montreal, Quebec, Canada; The Department of Human Genetics, McGill University, Montreal, Quebec, Canada; The Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec, Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>Montreal Neurological Institute and Hospital, McGill University, Montreal, Quebec, Canada; The Department of Human Genetics, McGill University, Montreal, Quebec, Canada; The Department of Neurology and Neurosurgery, McGill University, Montreal, Quebec</wicri:regionArea><orgName type="university">Université McGill</orgName><placeName><settlement type="city">Montréal</settlement><region type="state">Québec</region></placeName></affiliation></author></analytic><series><title level="j">Parkinsonism & related disorders</title><idno type="eISSN">1873-5126</idno><imprint><date when="2015" type="published">2015</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Female</term><term>Genetic Predisposition to Disease (genetics)</term><term>Humans</term><term>Male</term><term>Mutation (genetics)</term><term>Parkinson Disease (genetics)</term><term>Sphingomyelin Phosphodiesterase (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Sphingomyelin Phosphodiesterase</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Genetic Predisposition to Disease</term><term>Mutation</term><term>Parkinson Disease</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Female</term><term>Humans</term><term>Male</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Recently, an additional study confirmed the association between SMPD1 mutations and Parkinson's disease (PD). While the first study on SMPD1 and PD suggested that only one SMPD1 mutations is responsible for the association to PD, the recent study argued that all SMPD1 mutations may be associated with an increased risk for PD. Since SMPD1 mutations are being routinely screened in some populations with high carrier frequencies, and since it will be further screened in additional PD populations, it is important to better define the association between SMPD1 and PD. We reanalyzed the data from the recent and previous papers, and we show that the association between SMPD1 and PD is indeed not driven by only one mutation, but it is also not driven by all SMPD1 mutations. In the Ashkenazi-Jewish population, the p.fs330P (OR = 3.03, p = 0.0026) and p.L302P (OR = 9.62, p < 0.0001) are associated with PD, and the p.R496L mutation is not (OR = 0.84, p = 0.71), and similar observation was noted in the Chinese population. Thus, we conclude that similar to the GBA gene where different mutations have differential effects, SMPD1 mutations also have a differential effects on the risk for PD. Future studies should therefore examine the association by mutation and not by accumulative risk of all mutations.</div></front></TEI><affiliations><list><country><li>Canada</li><li>Israël</li><li>États-Unis</li></country><region><li>Québec</li><li>État de New York</li></region><settlement><li>Montréal</li><li>New York</li></settlement><orgName><li>Université Columbia</li><li>Université McGill</li></orgName></list><tree><country name="Canada"><region name="Québec"><name sortKey="Gan Or, Ziv" sort="Gan Or, Ziv" uniqKey="Gan Or Z" first="Ziv" last="Gan-Or">Ziv Gan-Or</name></region><name sortKey="Rouleau, Guy A" sort="Rouleau, Guy A" uniqKey="Rouleau G" first="Guy A" last="Rouleau">Guy A. Rouleau</name></country><country name="Israël"><noRegion><name sortKey="Orr Urtreger, Avi" sort="Orr Urtreger, Avi" uniqKey="Orr Urtreger A" first="Avi" last="Orr-Urtreger">Avi Orr-Urtreger</name></noRegion><name sortKey="Giladi, Nir" sort="Giladi, Nir" uniqKey="Giladi N" first="Nir" last="Giladi">Nir Giladi</name></country><country name="États-Unis"><region name="État de New York"><name sortKey="Alcalay, Roy N" sort="Alcalay, Roy N" uniqKey="Alcalay R" first="Roy N" last="Alcalay">Roy N. Alcalay</name></region><name sortKey="Bressman, Susan" sort="Bressman, Susan" uniqKey="Bressman S" first="Susan" last="Bressman">Susan Bressman</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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