Alzheimer's Disease
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Here, in order to discover potential AD-related loci, we investigated the association between late-onset AD (LOAD) susceptibility and nine single-nucleotide polymorphisms (SNPs) (rs11724635 of BST1, rs12637471 of MCCC1, rs15553999 of TMEM229, rs17649553 of MAPT, rs34311866 of TMEM175-GAK-DGKQ, rs356182 of SNCA, rs6430538 of ACMSD-TMEM163, rs76904798 of LRRK2 and rs823118 of RAB7L1-NUCKS1) which were reported to have genome-wide significant associations with PD risk in a recent Genome Wide Association Study performed among white population.
|
26738859 |
2017 |
Sporadic Parkinson disease
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
A Novel p.Glu298Lys Mutation in the ACMSD Gene in Sporadic Parkinson's Disease.
|
28671144 |
2017 |
Epilepsy
|
0.010 |
Biomarker
|
disease |
BEFREE |
Due to the previous association of ACMSD deficiency with the development of epileptic seizures, we concluded that the identified nonsense mutation in the ACMSD gene, which encodes for a critical enzyme of the kynurenine pathway of the tryptophan metabolism, is the disease-segregating mutation most likely to be responsible for the phenotype described in our family.
|
23955123 |
2013 |
nervous system disorder
|
0.010 |
Biomarker
|
group |
BEFREE |
The 2q21 region also harbors RAB3GAP1 and ACMSD; those are involved in neurologic disorders.
|
23209189 |
2013 |
Cerebral cortex myoclonus
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
ACMSD is mutated in a family with cortical myoclonus, epilepsy, and parkinsonism.
|
23955123 |
2013 |
Epileptic Seizures
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
Due to the previous association of ACMSD deficiency with the development of epileptic seizures, we concluded that the identified nonsense mutation in the ACMSD gene, which encodes for a critical enzyme of the kynurenine pathway of the tryptophan metabolism, is the disease-segregating mutation most likely to be responsible for the phenotype described in our family.
|
23955123 |
2013 |
Liver neoplasms
|
0.010 |
AlteredExpression
|
group |
BEFREE |
The rat ACMSD ORF was inserted into a mammalian expression vector, before transfection into human hepatoma HepG2 cells.
|
11802786 |
2002 |
Liver carcinoma
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
The rat ACMSD ORF was inserted into a mammalian expression vector, before transfection into human hepatoma HepG2 cells.
|
11802786 |
2002 |
Parkinsonian Disorders
|
0.020 |
GeneticVariation
|
group |
BEFREE |
Further support for this comes from the recent identification of a disease-segregating stop codon mutation in ACMSD in a family with Parkinsonism, and a missense mutation in the ACMSD gene predicted to disrupt enzyme function in an individual with typical PD.
|
29103054 |
2017 |
Parkinsonian Disorders
|
0.020 |
GeneticVariation
|
group |
BEFREE |
ACMSD is mutated in a family with cortical myoclonus, epilepsy, and parkinsonism.
|
23955123 |
2013 |
Parkinson Disease
|
0.080 |
GeneticVariation
|
disease |
BEFREE |
Herein, we investigated the effect of top three PD-associated genetic variants related to amino acid catabolism in Caucasians listed on the top risk loci identified by meta-analysis of genome-wide association studies in PDGene database, including aminocarboxymuconate-semialdehyde decarboxylase- (<i>ACMSD-</i>) transmembrane protein 163 (<i>TMEM163</i>) rs6430538, methylcrotonyl-CoA carboxylase 1 (<i>MCCC1</i>) rs12637471, and branched-chain ketoacid dehydrogenase kinase- (<i>BCKDK-</i>) syntaxin 1B (<i>STX1B</i>) rs14235, by genotyping 599 Taiwanese patients with PD and 598 age-matched control subjects.
|
30719275 |
2019 |
Parkinson Disease
|
0.080 |
GeneticVariation
|
disease |
BEFREE |
In the meta-analysis study no loci reached a genome-wide significance level (P<5xE-8), but a suggestive association (P-value = 1.04E-6) between rs6430538 (ACMSD/TMEM163) and an increased risk of PD was found.
|
31430546 |
2019 |
Parkinson Disease
|
0.080 |
Biomarker
|
disease |
BEFREE |
In this review, we discuss the genetic findings in light of the functions of ACMSD and its potential involvement in PD pathogenesis.
|
29103054 |
2017 |
Parkinson Disease
|
0.080 |
GeneticVariation
|
disease |
BEFREE |
Our data suggest that not only common genetic variability but also rare variants in ACMSD alone or in combination with other risk factors might increase the risk of PD.
|
28671144 |
2017 |
Parkinson Disease
|
0.080 |
GeneticVariation
|
disease |
BEFREE |
We used 2 PD case-control data sets (Washington University and the Parkinson's Progression Markers Initiative) to determine whether polymorphisms located at the GWAS top hits (GBA, ACMSD/TMEM163, STK39, MCCC1/LAMP3, GAK/TMEM175, SNCA, and MAPT) show association with AAO or motor progression.
|
26601739 |
2016 |
Parkinson Disease
|
0.080 |
GeneticVariation
|
disease |
BEFREE |
We replicate PD association (uncorrected p-value < 0.05) at the following loci: ACMSD/TMEM163, MAPT, STK39, MIR4697, and SREBF/RAI1.
|
27393345 |
2016 |
Parkinson Disease
|
0.080 |
GeneticVariation
|
disease |
BEFREE |
A meta-analysis of datasets from five Parkinson's disease GWAS from the USA and Europe found 11 loci that surpassed the threshold for genome-wide significance (p<5×10(-8)), and five were newly identified loci (ACMSD, STK39, MCCC1/LAMP3, SYT11 and CCDC62/HIP1R).
|
24631562 |
2014 |
Parkinson Disease
|
0.080 |
GeneticVariation
|
disease |
BEFREE |
The first large-scale meta-analysis of published genome-wide association studies (GWAS) in Parkinson's disease (PD) identified 5 new genetic loci (ACMSD, STK39, MCCC1/LAMP3, SYT11, and CCDC62/HIP1R).
|
24312176 |
2013 |
Red Blood Cell Count measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
Thyroxine measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation.
|
30367059 |
2018 |
Diastolic blood pressure
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.
|
30224653 |
2018 |
Hematocrit procedure
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis.
|
28017375 |
2017 |
Asthma
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Genome-Wide Association Study Identifies Novel Loci Associated With Diisocyanate-Induced Occupational Asthma.
|
25918132 |
2015 |
Polysomnography
|
0.100 |
GeneticVariation
|
phenotype |
GWASDB |
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
|
23251661 |
2012 |
Aspartate aminotransferase measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
|
23251661 |
2012 |