LIG Audit Status

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Batch audit-20260421-labels-seed42 · created 2026-04-21 07:03 · seed 42

caucasian
25 reviewed / 25 total
0 pending
Confirmed caucasian 25 · Not caucasian on review 0
white
25 reviewed / 25 total
0 pending
Confirmed white 24 · Not white on review 1
european
10 reviewed / 25 total
15 pending
Confirmed european 10 · Not european on review 0
other
25 reviewed / 25 total
0 pending
Confirmed other 25 · Not other on review 0
none of these labels
0 reviewed / 100 total
100 pending
Confirmed none of these labels 0 · Uses tracked labels on review 0

["Reaffirmation of GAK, but not HLA‐DRA, as a Parkinson's disease susceptibility gene in a Taiwanese population"]

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics · 2013 · article 102654974 · 10.1002/ajmg.b.32188

Review target: caucasian. Review status: reviewed

Audit result: confirmed caucasian · reviewer georgina · 2026-05-19 21:48

Classifier flags: caucasian, other: Taiwanese population

<jats:title>ABSTRACT</jats:title><jats:sec><jats:label /><jats:p>Recent genome‐wide association studies of Parkinson's disease (PD) in Caucasian populations have identified two new susceptibility loci, <jats:italic>GAK</jats:italic> and <jats:italic>HLA‐DRA</jats:italic>; however, only limited information exists regarding the involvement of these genes in PD risk in other ethnic groups. Here, we examined whether these genetic effects were consistent in a Taiwanese PD population. In a total 900 participants, including 448 PD patients and 452 control subjects, we genotyped the rs11248051 and rs1564282 variants of <jats:italic>GAK</jats:italic>, and the rs3129882 variant of <jats:italic>HLA‐DRA</jats:italic>. Logistic regression analysis was used to test for associations between genotype and PD under an additive model, adjusting for age and gender. Subjects with CT/TT genotypes of <jats:italic>GAK</jats:italic> rs11248051 had a modestly increased association with PD compared to those with CC genotype (OR = 1.37; 95% CI = 1.09, 1.87; <jats:italic>P</jats:italic> = 0.03). Carriers and non‐carriers exhibited indistinguishable phenotypes in regards to clinical presentation and onset age. We observed no association between PD risk and <jats:italic>GAK</jats:italic> rs1564282 or <jats:italic>HLA‐DRA</jats:italic> rs3129882 variant. The different genetic effects between Taiwanese and Caucasian populations may come from differences in population structure and geographic region‐specific genetic–environmental interactions. In conclusion, our results supported the association between the rs11248051 variant in <jats:italic>GAK</jats:italic> and PD risk in a Taiwanese population. Future functional studies of <jats:italic>GAK</jats:italic> in neuronal degeneration are warranted to unravel its role in the pathogenetic mechanism of PD. © 2013 Wiley Periodicals, Inc.</jats:p></jats:sec>
Target Article Journal Status Outcome Reviewer Updated
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article 59414975
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caucasian ["Severe bleeding with subclinical oculocutaneous albinism in a patient with a novel <i>HPS6</i> missense variant"]
article 60580025
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caucasian ["A novel <i>AXIN2</i> gene mutation in sagittal synostosis"]
article 62719976
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2018
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caucasian ["Cole‐Carpenter syndrome in a patient from Thailand"]
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caucasian ["Genetic aspects of Huntington's disease in Latin America. A systematic review"]
article 89016947
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reviewed confirmed caucasian georgina 2026-05-19 21:47
caucasian ["Who is at Risk for Compassion Fatigue? An Investigation of Genetic Counselor Demographics, Anxiety, Compassion Satisfaction, and Burnout"]
article 97820502
Journal of Genetic Counseling
2014
reviewed confirmed caucasian georgina 2026-05-19 21:47
caucasian ["Reaffirmation of GAK, but not HLA‐DRA, as a Parkinson's disease susceptibility gene in a Taiwanese population"]
article 102654974
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
2013
reviewed confirmed caucasian georgina 2026-05-19 21:48
caucasian ["A Comparison of <scp>B</scp>ayesian and Frequentist Approaches to Incorporating External Information for the Prediction of Prostate Cancer Risk"]
article 110315011
Genetic Epidemiology
2012
reviewed confirmed caucasian georgina 2026-05-19 21:49
caucasian ["Association of <i>ANK3</i> with bipolar disorder confirmed in East Asia"]
article 121850010
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
2011
reviewed confirmed caucasian georgina 2026-05-19 21:49
caucasian ["Pi phenotypes of alpha<sub>1</sub>‐antitrypsin in Southern England: Identification of M subtypes and implications for genetic studies"]
article 124861743
Clinical Genetics
1979
reviewed confirmed caucasian georgina 2026-05-19 21:49
caucasian ["Batten disease (Spielmeyer‐Sjogren disease) and haptoglobins (HP): indication of linkage and assignment to chr. 16"]
article 124891598
Clinical Genetics
1989
reviewed confirmed caucasian georgina 2026-05-19 21:49
caucasian ["The angiotensin‐converting enzyme (ACE) genetic polymorphism: its relationship with plasma ACE level and myocardial infarction"]
article 124907657
Clinical Genetics
1994
reviewed confirmed caucasian georgina 2026-05-19 21:50
caucasian ["The Utility of Genetic Counseling Prior to Offering First Trimester Screening Options"]
article 130870140
Journal of Genetic Counseling
2009
reviewed confirmed caucasian georgina 2026-05-19 21:50
caucasian ["COMT val158met influence on electroconvulsive therapy response in major depression"]
article 131955077
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
2009
reviewed confirmed caucasian georgina 2026-05-19 21:50
caucasian ["Haplogroup analysis supports a pathogenic role for the 7510T&gt;C mutation of mitochondrial tRNA<sup>Ser(UCN)</sup> in sensorineural hearing loss"]
article 132778489
Clinical Genetics
2007
reviewed confirmed caucasian georgina 2026-05-19 21:50
caucasian ["Genome‐widely significant evidence of linkage of schizophrenia to chromosomes 2p24.3 and 6q27 in an SNP‐Based analysis of Korean families"]
article 134074995
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
2009
reviewed confirmed caucasian georgina 2026-05-19 21:50
caucasian ["Association analysis of dynamin‐binding protein (<i>DNMBP</i>) on chromosome 10q with late onset Alzheimer's disease in a large caucasian UK sample"]
article 136339957
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
2008
reviewed confirmed caucasian georgina 2026-05-19 21:50
caucasian ["Familial CHARGE syndrome because of <i>CHD7</i> mutation: clinical intra‐ and interfamilial variability"]
article 140508992
Clinical Genetics
2007
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caucasian ["Clinical and genetic analysis of two Tunisian otosclerosis families"]
article 141540018
American Journal of Medical Genetics Part A
2007
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caucasian ["Thromboxane synthase (TBXAS1) polymorphisms in African-American and Caucasian populations: evidence for selective pressure"]
article 152400290
Human Mutation
2005
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caucasian ["Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population"]
article 158799951
American Journal of Medical Genetics Part A
2004
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caucasian ["A new insight into fragile X syndrome among Basque population"]
article 158990096
American Journal of Medical Genetics Part A
2004
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caucasian ["Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY)"]
article 161615354
Human Mutation
2003
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caucasian ["CHD7 variants associated with hearing loss and enlargement of the vestibular aqueduct"]
article 172329127
Human Genetics
2023
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