MovDisordV3, Ncbi, Checkpoint, bibRecord, 002600

LRRK2 Mutations and Risk Variants in Japanese Patients with Parkinson’s Disease

Identifieur interne : 002600 ( Ncbi/Checkpoint ); précédent : 002599; suivant : 002601

LRRK2 Mutations and Risk Variants in Japanese Patients with Parkinson’s Disease

Auteurs : Cyrus P. Zabetian [États-Unis] ; Mitsutoshi Yamamoto [Japon] ; Alexis N. Lopez [États-Unis] ; Hiroshi Ujike [Japon] ; Ignacio F. Mata [États-Unis] ; Yuishin Izumi [Japon] ; Ryuji Kaji [Japon] ; Hirofumi Maruyama [Japon] ; Hiroyuki Morino [Japon] ; Masaya Oda [Japon] ; Carolyn M. Hutter [États-Unis] ; Karen L. Edwards [États-Unis] ; Gerard D. Schellenberg [États-Unis] ; Debby W. Tsuang [États-Unis] ; Dora Yearout [États-Unis] ; Eric B. Larson [États-Unis] ; Hideshi Kawakami [Japon]

Source :

Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2009.

RBID : PMC:2827255

Descripteurs français

Wicri :
- geographic : Japon.

English descriptors

KwdEn :
- Aged, Arginine (genetics), DNA Mutational Analysis, Exons (genetics), Family Health, Female, Gene Frequency, Genetic Predisposition to Disease (genetics), Genotype, Glycine (genetics), Humans, Japan, Male, Meta-Analysis as Topic, Middle Aged, Models, Statistical, Molecular Sequence Data, Mutation (genetics), Parkinson Disease (etiology), Parkinson Disease (genetics), Protein-Serine-Threonine Kinases (genetics), Risk Factors.
MESH :
- chemical , genetics : Arginine, Glycine, Protein-Serine-Threonine Kinases.
- geographic : Japan.
- etiology : Parkinson Disease.
- genetics : Exons, Genetic Predisposition to Disease, Mutation, Parkinson Disease.
- Aged, DNA Mutational Analysis, Family Health, Female, Gene Frequency, Genotype, Humans, Male, Meta-Analysis as Topic, Middle Aged, Models, Statistical, Molecular Sequence Data, Risk Factors.

Abstract

Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene are the most common genetic determinant of Parkinson’s disease (PD) in European-derived populations, but far less is known about LRRK2 mutations and susceptibility alleles in Asians. To address this issue, we sequenced the LRRK2 coding region in 36 patients with familial PD, then genotyped variants of interest in an additional 595 PD cases and 1,641 controls who were all of Japanese ancestry. We also performed a meta-analysis of studies on G2385R, a polymorphism previously reported to associate with PD. One pathogenic (G2019S) and one putative pathogenic (R1067Q) mutation were each observed in two patients with sporadic PD. The overall mutation frequency among patients was 0.6%. G2385R was highly associated with PD under a dominant model in our dataset (adjusted OR, 1.83; 95% CI, 1.31–2.54; P = 3.3 × 10⁻⁴) and similar results were seen in the meta-analysis (summary OR assuming fixed effects, 2.55; 95% CI, 2.10–3.10). G2385R represents the first consistently replicated common PD susceptibility variant in a non-European population and its effect size is substantially greater than that reported for other well-validated genetic risk factors for the disease. However, LRRK2 mutations appear to be rare among Japanese patients with PD.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2827255

DOI: 10.1002/mds.22514
PubMed: 19343804
PubMed Central: 2827255

Affiliations:

Links to Exploration step

PMC:2827255

Le document en format XML

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 Mutations and Risk Variants in Japanese Patients with Parkinson’s Disease</title>
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<wicri:cityArea> Department of Neurology, University of Washington School of Medicine, Seattle</wicri:cityArea>
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<author><name sortKey="Izumi, Yuishin" sort="Izumi, Yuishin" uniqKey="Izumi Y" first="Yuishin" last="Izumi">Yuishin Izumi</name>
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<author><name sortKey="Maruyama, Hirofumi" sort="Maruyama, Hirofumi" uniqKey="Maruyama H" first="Hirofumi" last="Maruyama">Hirofumi Maruyama</name>
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<author><name sortKey="Morino, Hiroyuki" sort="Morino, Hiroyuki" uniqKey="Morino H" first="Hiroyuki" last="Morino">Hiroyuki Morino</name>
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<author><name sortKey="Oda, Masaya" sort="Oda, Masaya" uniqKey="Oda M" first="Masaya" last="Oda">Masaya Oda</name>
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<author><name sortKey="Hutter, Carolyn M" sort="Hutter, Carolyn M" uniqKey="Hutter C" first="Carolyn M." last="Hutter">Carolyn M. Hutter</name>
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<wicri:cityArea> Department of Epidemiology, University of Washington School of Public Health and Community Medicine, Seattle</wicri:cityArea>
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<author><name sortKey="Edwards, Karen L" sort="Edwards, Karen L" uniqKey="Edwards K" first="Karen L." last="Edwards">Karen L. Edwards</name>
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<author><name sortKey="Schellenberg, Gerard D" sort="Schellenberg, Gerard D" uniqKey="Schellenberg G" first="Gerard D." last="Schellenberg">Gerard D. Schellenberg</name>
<affiliation wicri:level="2"><nlm:aff id="A1"> Department of Neurology, University of Washington School of Medicine, Seattle, Washington</nlm:aff>
<country xml:lang="fr">États-Unis</country>
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<wicri:cityArea> Department of Neurology, University of Washington School of Medicine, Seattle</wicri:cityArea>
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<affiliation wicri:level="2"><nlm:aff id="A2"> Geriatric Research Education and Clinical Center, VA Puget Sound Health Care System, Seattle, Washington</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Washington (État)</region>
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<wicri:cityArea> Geriatric Research Education and Clinical Center, VA Puget Sound Health Care System, Seattle</wicri:cityArea>
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<affiliation wicri:level="2"><nlm:aff id="A11"> Department of Medicine, University of Washington School of Medicine, Seattle, Washington</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Washington (État)</region>
</placeName>
<wicri:cityArea> Department of Medicine, University of Washington School of Medicine, Seattle</wicri:cityArea>
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<affiliation wicri:level="2"><nlm:aff id="A12"> Department of Pharmacology, University of Washington School of Medicine, Seattle, Washington</nlm:aff>
<country xml:lang="fr">États-Unis</country>
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</placeName>
<wicri:cityArea> Department of Pharmacology, University of Washington School of Medicine, Seattle</wicri:cityArea>
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<author><name sortKey="Tsuang, Debby W" sort="Tsuang, Debby W" uniqKey="Tsuang D" first="Debby W." last="Tsuang">Debby W. Tsuang</name>
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<affiliation wicri:level="2"><nlm:aff id="A13"> Department of Psychiatry and Behavioral Sciences, University of Washington School of Medicine, Seattle, Washington</nlm:aff>
<country xml:lang="fr">États-Unis</country>
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</placeName>
<wicri:cityArea> Department of Psychiatry and Behavioral Sciences, University of Washington School of Medicine, Seattle</wicri:cityArea>
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<author><name sortKey="Yearout, Dora" sort="Yearout, Dora" uniqKey="Yearout D" first="Dora" last="Yearout">Dora Yearout</name>
<affiliation wicri:level="2"><nlm:aff id="A1"> Department of Neurology, University of Washington School of Medicine, Seattle, Washington</nlm:aff>
<country xml:lang="fr">États-Unis</country>
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</placeName>
<wicri:cityArea> Department of Neurology, University of Washington School of Medicine, Seattle</wicri:cityArea>
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<author><name sortKey="Larson, Eric B" sort="Larson, Eric B" uniqKey="Larson E" first="Eric B." last="Larson">Eric B. Larson</name>
<affiliation wicri:level="2"><nlm:aff id="A11"> Department of Medicine, University of Washington School of Medicine, Seattle, Washington</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Washington (État)</region>
</placeName>
<wicri:cityArea> Department of Medicine, University of Washington School of Medicine, Seattle</wicri:cityArea>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="A14"> Center for Health Studies, Group Health Cooperative, Seattle, Washington</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Washington (État)</region>
</placeName>
<wicri:cityArea> Center for Health Studies, Group Health Cooperative, Seattle</wicri:cityArea>
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<author><name sortKey="Kawakami, Hideshi" sort="Kawakami, Hideshi" uniqKey="Kawakami H" first="Hideshi" last="Kawakami">Hideshi Kawakami</name>
<affiliation wicri:level="1"><nlm:aff id="A8"> Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Hiroshima, Japan</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea> Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Hiroshima</wicri:regionArea>
<wicri:noRegion>Hiroshima</wicri:noRegion>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main"><italic>LRRK2</italic>
 Mutations and Risk Variants in Japanese Patients with Parkinson’s Disease</title>
<author><name sortKey="Zabetian, Cyrus P" sort="Zabetian, Cyrus P" uniqKey="Zabetian C" first="Cyrus P." last="Zabetian">Cyrus P. Zabetian</name>
<affiliation wicri:level="2"><nlm:aff id="A1"> Department of Neurology, University of Washington School of Medicine, Seattle, Washington</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Washington (État)</region>
</placeName>
<wicri:cityArea> Department of Neurology, University of Washington School of Medicine, Seattle</wicri:cityArea>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="A2"> Geriatric Research Education and Clinical Center, VA Puget Sound Health Care System, Seattle, Washington</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Washington (État)</region>
</placeName>
<wicri:cityArea> Geriatric Research Education and Clinical Center, VA Puget Sound Health Care System, Seattle</wicri:cityArea>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="A3"> Northwest Parkinson’s Disease Research Education and Clinical Center, VA Puget Sound Health Care System, Seattle, Washington</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Washington (État)</region>
</placeName>
<wicri:cityArea> Northwest Parkinson’s Disease Research Education and Clinical Center, VA Puget Sound Health Care System, Seattle</wicri:cityArea>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="A4"> Mental Illness Research Education and Clinical Center, VA Puget Sound Health Care System, Seattle, Washington</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Washington (État)</region>
</placeName>
<wicri:cityArea> Mental Illness Research Education and Clinical Center, VA Puget Sound Health Care System, Seattle</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Yamamoto, Mitsutoshi" sort="Yamamoto, Mitsutoshi" uniqKey="Yamamoto M" first="Mitsutoshi" last="Yamamoto">Mitsutoshi Yamamoto</name>
<affiliation wicri:level="1"><nlm:aff id="A5"> Department of Neurology, Kagawa Prefectural Central Hospital, Takamatsu, Japan</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea> Department of Neurology, Kagawa Prefectural Central Hospital, Takamatsu</wicri:regionArea>
<wicri:noRegion>Takamatsu</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Lopez, Alexis N" sort="Lopez, Alexis N" uniqKey="Lopez A" first="Alexis N." last="Lopez">Alexis N. Lopez</name>
<affiliation wicri:level="2"><nlm:aff id="A1"> Department of Neurology, University of Washington School of Medicine, Seattle, Washington</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Washington (État)</region>
</placeName>
<wicri:cityArea> Department of Neurology, University of Washington School of Medicine, Seattle</wicri:cityArea>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="A2"> Geriatric Research Education and Clinical Center, VA Puget Sound Health Care System, Seattle, Washington</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Washington (État)</region>
</placeName>
<wicri:cityArea> Geriatric Research Education and Clinical Center, VA Puget Sound Health Care System, Seattle</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Ujike, Hiroshi" sort="Ujike, Hiroshi" uniqKey="Ujike H" first="Hiroshi" last="Ujike">Hiroshi Ujike</name>
<affiliation wicri:level="1"><nlm:aff id="A6"> Department of Neuropsychiatry, Okayama University Graduate School of Medicine, Dentistry, and Pharmaceutical Sciences, Okayama, Japan</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea> Department of Neuropsychiatry, Okayama University Graduate School of Medicine, Dentistry, and Pharmaceutical Sciences, Okayama</wicri:regionArea>
<wicri:noRegion>Okayama</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Mata, Ignacio F" sort="Mata, Ignacio F" uniqKey="Mata I" first="Ignacio F." last="Mata">Ignacio F. Mata</name>
<affiliation wicri:level="2"><nlm:aff id="A1"> Department of Neurology, University of Washington School of Medicine, Seattle, Washington</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Washington (État)</region>
</placeName>
<wicri:cityArea> Department of Neurology, University of Washington School of Medicine, Seattle</wicri:cityArea>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="A2"> Geriatric Research Education and Clinical Center, VA Puget Sound Health Care System, Seattle, Washington</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Washington (État)</region>
</placeName>
<wicri:cityArea> Geriatric Research Education and Clinical Center, VA Puget Sound Health Care System, Seattle</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Izumi, Yuishin" sort="Izumi, Yuishin" uniqKey="Izumi Y" first="Yuishin" last="Izumi">Yuishin Izumi</name>
<affiliation wicri:level="1"><nlm:aff id="A7"> Department of Clinical Neuroscience, Institute of Health Biosciences, University of Tokushima Graduate School, Tokushima, Japan</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea> Department of Clinical Neuroscience, Institute of Health Biosciences, University of Tokushima Graduate School, Tokushima</wicri:regionArea>
<wicri:noRegion>Tokushima</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Kaji, Ryuji" sort="Kaji, Ryuji" uniqKey="Kaji R" first="Ryuji" last="Kaji">Ryuji Kaji</name>
<affiliation wicri:level="1"><nlm:aff id="A7"> Department of Clinical Neuroscience, Institute of Health Biosciences, University of Tokushima Graduate School, Tokushima, Japan</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea> Department of Clinical Neuroscience, Institute of Health Biosciences, University of Tokushima Graduate School, Tokushima</wicri:regionArea>
<wicri:noRegion>Tokushima</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Maruyama, Hirofumi" sort="Maruyama, Hirofumi" uniqKey="Maruyama H" first="Hirofumi" last="Maruyama">Hirofumi Maruyama</name>
<affiliation wicri:level="1"><nlm:aff id="A8"> Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Hiroshima, Japan</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea> Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Hiroshima</wicri:regionArea>
<wicri:noRegion>Hiroshima</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Morino, Hiroyuki" sort="Morino, Hiroyuki" uniqKey="Morino H" first="Hiroyuki" last="Morino">Hiroyuki Morino</name>
<affiliation wicri:level="1"><nlm:aff id="A8"> Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Hiroshima, Japan</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea> Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Hiroshima</wicri:regionArea>
<wicri:noRegion>Hiroshima</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Oda, Masaya" sort="Oda, Masaya" uniqKey="Oda M" first="Masaya" last="Oda">Masaya Oda</name>
<affiliation wicri:level="1"><nlm:aff id="A9"> Department of Neurology, Sumitomo Hospital, Osaka, Japan</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea> Department of Neurology, Sumitomo Hospital, Osaka</wicri:regionArea>
<wicri:noRegion>Osaka</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Hutter, Carolyn M" sort="Hutter, Carolyn M" uniqKey="Hutter C" first="Carolyn M." last="Hutter">Carolyn M. Hutter</name>
<affiliation wicri:level="2"><nlm:aff id="A10"> Department of Epidemiology, University of Washington School of Public Health and Community Medicine, Seattle, Washington</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Washington (État)</region>
</placeName>
<wicri:cityArea> Department of Epidemiology, University of Washington School of Public Health and Community Medicine, Seattle</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Edwards, Karen L" sort="Edwards, Karen L" uniqKey="Edwards K" first="Karen L." last="Edwards">Karen L. Edwards</name>
<affiliation wicri:level="2"><nlm:aff id="A10"> Department of Epidemiology, University of Washington School of Public Health and Community Medicine, Seattle, Washington</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Washington (État)</region>
</placeName>
<wicri:cityArea> Department of Epidemiology, University of Washington School of Public Health and Community Medicine, Seattle</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Schellenberg, Gerard D" sort="Schellenberg, Gerard D" uniqKey="Schellenberg G" first="Gerard D." last="Schellenberg">Gerard D. Schellenberg</name>
<affiliation wicri:level="2"><nlm:aff id="A1"> Department of Neurology, University of Washington School of Medicine, Seattle, Washington</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Washington (État)</region>
</placeName>
<wicri:cityArea> Department of Neurology, University of Washington School of Medicine, Seattle</wicri:cityArea>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="A2"> Geriatric Research Education and Clinical Center, VA Puget Sound Health Care System, Seattle, Washington</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Washington (État)</region>
</placeName>
<wicri:cityArea> Geriatric Research Education and Clinical Center, VA Puget Sound Health Care System, Seattle</wicri:cityArea>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="A11"> Department of Medicine, University of Washington School of Medicine, Seattle, Washington</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Washington (État)</region>
</placeName>
<wicri:cityArea> Department of Medicine, University of Washington School of Medicine, Seattle</wicri:cityArea>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="A12"> Department of Pharmacology, University of Washington School of Medicine, Seattle, Washington</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Washington (État)</region>
</placeName>
<wicri:cityArea> Department of Pharmacology, University of Washington School of Medicine, Seattle</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Tsuang, Debby W" sort="Tsuang, Debby W" uniqKey="Tsuang D" first="Debby W." last="Tsuang">Debby W. Tsuang</name>
<affiliation wicri:level="2"><nlm:aff id="A4"> Mental Illness Research Education and Clinical Center, VA Puget Sound Health Care System, Seattle, Washington</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Washington (État)</region>
</placeName>
<wicri:cityArea> Mental Illness Research Education and Clinical Center, VA Puget Sound Health Care System, Seattle</wicri:cityArea>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="A13"> Department of Psychiatry and Behavioral Sciences, University of Washington School of Medicine, Seattle, Washington</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Washington (État)</region>
</placeName>
<wicri:cityArea> Department of Psychiatry and Behavioral Sciences, University of Washington School of Medicine, Seattle</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Yearout, Dora" sort="Yearout, Dora" uniqKey="Yearout D" first="Dora" last="Yearout">Dora Yearout</name>
<affiliation wicri:level="2"><nlm:aff id="A1"> Department of Neurology, University of Washington School of Medicine, Seattle, Washington</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Washington (État)</region>
</placeName>
<wicri:cityArea> Department of Neurology, University of Washington School of Medicine, Seattle</wicri:cityArea>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="A2"> Geriatric Research Education and Clinical Center, VA Puget Sound Health Care System, Seattle, Washington</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Washington (État)</region>
</placeName>
<wicri:cityArea> Geriatric Research Education and Clinical Center, VA Puget Sound Health Care System, Seattle</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Larson, Eric B" sort="Larson, Eric B" uniqKey="Larson E" first="Eric B." last="Larson">Eric B. Larson</name>
<affiliation wicri:level="2"><nlm:aff id="A11"> Department of Medicine, University of Washington School of Medicine, Seattle, Washington</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Washington (État)</region>
</placeName>
<wicri:cityArea> Department of Medicine, University of Washington School of Medicine, Seattle</wicri:cityArea>
</affiliation>
<affiliation wicri:level="2"><nlm:aff id="A14"> Center for Health Studies, Group Health Cooperative, Seattle, Washington</nlm:aff>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Washington (État)</region>
</placeName>
<wicri:cityArea> Center for Health Studies, Group Health Cooperative, Seattle</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Kawakami, Hideshi" sort="Kawakami, Hideshi" uniqKey="Kawakami H" first="Hideshi" last="Kawakami">Hideshi Kawakami</name>
<affiliation wicri:level="1"><nlm:aff id="A8"> Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Hiroshima, Japan</nlm:aff>
<country xml:lang="fr">Japon</country>
<wicri:regionArea> Department of Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Hiroshima</wicri:regionArea>
<wicri:noRegion>Hiroshima</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title>
<idno type="ISSN">0885-3185</idno>
<idno type="eISSN">1531-8257</idno>
<imprint><date when="2009">2009</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Aged</term>
<term>Arginine (genetics)</term>
<term>DNA Mutational Analysis</term>
<term>Exons (genetics)</term>
<term>Family Health</term>
<term>Female</term>
<term>Gene Frequency</term>
<term>Genetic Predisposition to Disease (genetics)</term>
<term>Genotype</term>
<term>Glycine (genetics)</term>
<term>Humans</term>
<term>Japan</term>
<term>Male</term>
<term>Meta-Analysis as Topic</term>
<term>Middle Aged</term>
<term>Models, Statistical</term>
<term>Molecular Sequence Data</term>
<term>Mutation (genetics)</term>
<term>Parkinson Disease (etiology)</term>
<term>Parkinson Disease (genetics)</term>
<term>Protein-Serine-Threonine Kinases (genetics)</term>
<term>Risk Factors</term>
</keywords>
<keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Arginine</term>
<term>Glycine</term>
<term>Protein-Serine-Threonine Kinases</term>
</keywords>
<keywords scheme="MESH" type="geographic" xml:lang="en"><term>Japan</term>
</keywords>
<keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Parkinson Disease</term>
</keywords>
<keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Exons</term>
<term>Genetic Predisposition to Disease</term>
<term>Mutation</term>
<term>Parkinson Disease</term>
</keywords>
<keywords scheme="MESH" xml:lang="en"><term>Aged</term>
<term>DNA Mutational Analysis</term>
<term>Family Health</term>
<term>Female</term>
<term>Gene Frequency</term>
<term>Genotype</term>
<term>Humans</term>
<term>Male</term>
<term>Meta-Analysis as Topic</term>
<term>Middle Aged</term>
<term>Models, Statistical</term>
<term>Molecular Sequence Data</term>
<term>Risk Factors</term>
</keywords>
<keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Japon</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en"><p id="P1">Mutations in the leucine-rich repeat kinase 2 (<italic>LRRK2</italic>
) gene are the most common genetic determinant of Parkinson’s disease (PD) in European-derived populations, but far less is known about <italic>LRRK2</italic>
 mutations and susceptibility alleles in Asians. To address this issue, we sequenced the <italic>LRRK2</italic>
 coding region in 36 patients with familial PD, then genotyped variants of interest in an additional 595 PD cases and 1,641 controls who were all of Japanese ancestry. We also performed a meta-analysis of studies on G2385R, a polymorphism previously reported to associate with PD. One pathogenic (G2019S) and one putative pathogenic (R1067Q) mutation were each observed in two patients with sporadic PD. The overall mutation frequency among patients was 0.6%. G2385R was highly associated with PD under a dominant model in our dataset (adjusted OR, 1.83; 95% CI, 1.31–2.54; <italic>P</italic>
 = 3.3 × 10<sup>−4</sup>
) and similar results were seen in the meta-analysis (summary OR assuming fixed effects, 2.55; 95% CI, 2.10–3.10). G2385R represents the first consistently replicated common PD susceptibility variant in a non-European population and its effect size is substantially greater than that reported for other well-validated genetic risk factors for the disease. However, <italic>LRRK2</italic>
 mutations appear to be rare among Japanese patients with PD.</p>
</div>
</front>
</TEI>
<affiliations><list><country><li>Japon</li>
<li>États-Unis</li>
</country>
<region><li>Washington (État)</li>
</region>
</list>
<tree><country name="États-Unis"><region name="Washington (État)"><name sortKey="Zabetian, Cyrus P" sort="Zabetian, Cyrus P" uniqKey="Zabetian C" first="Cyrus P." last="Zabetian">Cyrus P. Zabetian</name>
</region>
<name sortKey="Edwards, Karen L" sort="Edwards, Karen L" uniqKey="Edwards K" first="Karen L." last="Edwards">Karen L. Edwards</name>
<name sortKey="Hutter, Carolyn M" sort="Hutter, Carolyn M" uniqKey="Hutter C" first="Carolyn M." last="Hutter">Carolyn M. Hutter</name>
<name sortKey="Larson, Eric B" sort="Larson, Eric B" uniqKey="Larson E" first="Eric B." last="Larson">Eric B. Larson</name>
<name sortKey="Larson, Eric B" sort="Larson, Eric B" uniqKey="Larson E" first="Eric B." last="Larson">Eric B. Larson</name>
<name sortKey="Lopez, Alexis N" sort="Lopez, Alexis N" uniqKey="Lopez A" first="Alexis N." last="Lopez">Alexis N. Lopez</name>
<name sortKey="Lopez, Alexis N" sort="Lopez, Alexis N" uniqKey="Lopez A" first="Alexis N." last="Lopez">Alexis N. Lopez</name>
<name sortKey="Mata, Ignacio F" sort="Mata, Ignacio F" uniqKey="Mata I" first="Ignacio F." last="Mata">Ignacio F. Mata</name>
<name sortKey="Mata, Ignacio F" sort="Mata, Ignacio F" uniqKey="Mata I" first="Ignacio F." last="Mata">Ignacio F. Mata</name>
<name sortKey="Schellenberg, Gerard D" sort="Schellenberg, Gerard D" uniqKey="Schellenberg G" first="Gerard D." last="Schellenberg">Gerard D. Schellenberg</name>
<name sortKey="Schellenberg, Gerard D" sort="Schellenberg, Gerard D" uniqKey="Schellenberg G" first="Gerard D." last="Schellenberg">Gerard D. Schellenberg</name>
<name sortKey="Schellenberg, Gerard D" sort="Schellenberg, Gerard D" uniqKey="Schellenberg G" first="Gerard D." last="Schellenberg">Gerard D. Schellenberg</name>
<name sortKey="Schellenberg, Gerard D" sort="Schellenberg, Gerard D" uniqKey="Schellenberg G" first="Gerard D." last="Schellenberg">Gerard D. Schellenberg</name>
<name sortKey="Tsuang, Debby W" sort="Tsuang, Debby W" uniqKey="Tsuang D" first="Debby W." last="Tsuang">Debby W. Tsuang</name>
<name sortKey="Tsuang, Debby W" sort="Tsuang, Debby W" uniqKey="Tsuang D" first="Debby W." last="Tsuang">Debby W. Tsuang</name>
<name sortKey="Yearout, Dora" sort="Yearout, Dora" uniqKey="Yearout D" first="Dora" last="Yearout">Dora Yearout</name>
<name sortKey="Yearout, Dora" sort="Yearout, Dora" uniqKey="Yearout D" first="Dora" last="Yearout">Dora Yearout</name>
<name sortKey="Zabetian, Cyrus P" sort="Zabetian, Cyrus P" uniqKey="Zabetian C" first="Cyrus P." last="Zabetian">Cyrus P. Zabetian</name>
<name sortKey="Zabetian, Cyrus P" sort="Zabetian, Cyrus P" uniqKey="Zabetian C" first="Cyrus P." last="Zabetian">Cyrus P. Zabetian</name>
<name sortKey="Zabetian, Cyrus P" sort="Zabetian, Cyrus P" uniqKey="Zabetian C" first="Cyrus P." last="Zabetian">Cyrus P. Zabetian</name>
</country>
<country name="Japon"><noRegion><name sortKey="Yamamoto, Mitsutoshi" sort="Yamamoto, Mitsutoshi" uniqKey="Yamamoto M" first="Mitsutoshi" last="Yamamoto">Mitsutoshi Yamamoto</name>
</noRegion>
<name sortKey="Izumi, Yuishin" sort="Izumi, Yuishin" uniqKey="Izumi Y" first="Yuishin" last="Izumi">Yuishin Izumi</name>
<name sortKey="Kaji, Ryuji" sort="Kaji, Ryuji" uniqKey="Kaji R" first="Ryuji" last="Kaji">Ryuji Kaji</name>
<name sortKey="Kawakami, Hideshi" sort="Kawakami, Hideshi" uniqKey="Kawakami H" first="Hideshi" last="Kawakami">Hideshi Kawakami</name>
<name sortKey="Maruyama, Hirofumi" sort="Maruyama, Hirofumi" uniqKey="Maruyama H" first="Hirofumi" last="Maruyama">Hirofumi Maruyama</name>
<name sortKey="Morino, Hiroyuki" sort="Morino, Hiroyuki" uniqKey="Morino H" first="Hiroyuki" last="Morino">Hiroyuki Morino</name>
<name sortKey="Oda, Masaya" sort="Oda, Masaya" uniqKey="Oda M" first="Masaya" last="Oda">Masaya Oda</name>
<name sortKey="Ujike, Hiroshi" sort="Ujike, Hiroshi" uniqKey="Ujike H" first="Hiroshi" last="Ujike">Hiroshi Ujike</name>
</country>
</tree>
</affiliations>
</record>

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Movement Disorders (revue)

LRRK2 Mutations and Risk Variants in Japanese Patients with Parkinson’s Disease

LRRK2 Mutations and Risk Variants in Japanese Patients with Parkinson’s Disease

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