Abstract
Previous genome-wide association studies in Caucasian populations suggest that genetic loci in amino acid catabolism may be associated with Parkinson's disease (PD). However, these genetic disease associations were limitedly reported in Asian populations. 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- (ACMSD-) transmembrane protein 163 (TMEM163) rs6430538, methylcrotonyl-CoA carboxylase 1 (MCCC1) rs12637471, and branched-chain ketoacid dehydrogenase kinase- (BCKDK-) syntaxin 1B (STX1B) rs14235, by genotyping 599 Taiwanese patients with PD and 598 age-matched control subjects. PD patients demonstrate similar allelic and genotypic frequencies in all tested genetic variants. These ethnic discrepancies of genetic variants suggest a distinct genetic background of amino acid catabolism between Taiwanese and Caucasian PD patients.
Highlights
Parkinson’s disease (PD) is an age-related neurodegenerative disease with a high rank in prevalence, accounting for 1% of individuals over the age of 65 [1]. e major symptoms include tremors, rigidity, bradykinesia, and stooped posture, which are due to progressive loss of nigrostriatal dopaminergic neurons with presence of eosinophilic cytoplasmic inclusion bodies (Lewy bodies) enriched with α-synuclein [1]
To provide more facts about amino acid metabolism genetic loci contributing to PD across different populations, we conducted a case-control study by examining the genotypic and allelic frequencies of Aminocarboxymuconate semialdehyde decarboxylase (ACMSD)-transmembrane protein 163 (TMEM163) rs6430538, methylcrotonyl-CoA carboxylase 1 (MCCC1) rs12637471, and branched-chain ketoacid dehydrogenase kinase- (BCKDK-)syntaxin 1B (STX1B) rs14235 in 599 Taiwanese PD patients and 598 control subjects
To minimize the effect by the same single nucleotide polymorphism (SNP) within the same family, only one proband with familial PD was recruited. e mean age at onset of PD symptoms was 62.53 ± 11.11 years and that of control subjects upon recruitment was 59.62 ± 12.66 years. e allelic (Table 2) and genotypic (Table 3) frequencies of aminocarboxymuconate semialdehyde decarboxylase- (ACMSD-)TMEM163 rs6430538, MCCC1 rs12637471, and BCKDK-STX1B rs14235 were similar in both PD patients and controls
Summary
Parkinson’s disease (PD) is an age-related neurodegenerative disease with a high rank in prevalence, accounting for 1% of individuals over the age of 65 [1]. e major symptoms include tremors, rigidity, bradykinesia, and stooped posture, which are due to progressive loss of nigrostriatal dopaminergic neurons with presence of eosinophilic cytoplasmic inclusion bodies (Lewy bodies) enriched with α-synuclein [1]. Parkinson’s Disease pathways, such as aminocarboxymuconate semialdehyde decarboxylase- (ACMSD-) transmembrane protein 163 (TMEM163) rs6430538, methylcrotonyl-CoA carboxylase 1 (MCCC1) rs12637471, branched-chain ketoacid dehydrogenase kinase- (BCKDK-) syntaxin 1B (STX1B) rs14235, were listed on the top risk loci by meta-analysis of GWAS in Caucasian [3, 9]. These genetic associations in Han Chinese are limitedly revealed. To provide more facts about amino acid metabolism genetic loci contributing to PD across different populations, we conducted a case-control study by examining the genotypic and allelic frequencies of ACMSD-TMEM163 rs6430538, MCCC1 rs12637471, and BCKDK-STX1B rs14235 in 599 Taiwanese PD patients and 598 control subjects
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