Table 1.
Studies on genetic association of kynurenine pathway in Parkinson's disease.
| Gene | Location | No. of exons | rs number | No. of patients | Mutation | Results | Reference |
|---|---|---|---|---|---|---|---|
| KMO | chr 1 | 17 exons | rs2275163 | 105 cases | No association of SNPs | First investigation in KMO gene and the genetic link in PD is missing | [15] |
| rs1053230 | |||||||
| rs2050518 rs6661244 | |||||||
| ACMSD | chr 2 | 13 exons | rs6430538 | 989 PD cases | NIL | No polymorphism contribute to PD | [84] |
| 599 PD cases | T/C | No significant difference observed between allelic and genotypic frequencies | [85] | ||||
| 6476 PD cases | T/C | GWAS studies identified protein altering variants in 29 PD loci. | [91] | ||||
| Case study | p.Glu298Lys | First study to identify the mutation and this would deregulate kynurenine pathway in some PD cases | [93] | ||||
| 240 | T/C | GWAS studies analyzed for homozygosity and structural genomic variations which resulted in novel characterization in PD | [89] | ||||
| 13,708 cases | T/C | Meta-analysis identified the replication association analysis. | [90] | ||||
| Spanish family | c.77G > A | Study focused on Familial cortical myoclonic tremor and epilepsy along with parkinsonism were the findings implicates KP in neurodegeneration | [92] | ||||
| rs10928513 | 1345 cases | – | The replication study analyzed 11 associated genes were the susceptible loci were well represented | [88] | |||
| rs6723108 | 16,452 PD | From meta-analysis study, ACMSD alone showed genome-wide significance | [86] | ||||
| rs10928513 | 8750 cases | – | No association was observed with ACMSD | [87] |
chr– chromosome; KMO-kynurenine – 3-monooxygenase; SNPs-single nucleotide polymorphisms; ACMSD - aminocarboxymuconate semialdehyde decarboxylase; GWAS-genome wide association studies.