Analysis of the association of minisatellite UPS29 of CENTB5 gene with Parkinson’s disease

Length Polymorphism and Methylation Status of UPS29 Minisatellite of the ACAP3 Gene as Molecular Biomarker of Epilepsy. Sex Differences in Seizure Types and Symptoms

“…Indeed, at first glance, the sample is rather small, but it is enough for nonparametric statistical criteria. Our earlier data [31,59] and later studies (unpublished data) on 450 healthy volunteers showed that short alleles frequency for the Caucasian population, is low and the size of the sample does not influence observed allele frequency. Moreover, there is a difference in the total number of alleles between men and women.…”

“…We did not observe significant differences in allelic and genotypic frequencies of 5-HTTLPR and STin2 among patients with symptomatic and cryptogenic epilepsy (cohort from the presented study) in comparison with the control sample [67], but in these patients, we revealed an association with short UPS29 alleles of ACAP3 gene in both homozygotes and heterozygotes. Besides, a statistically significant increase in the frequency of individuals with short UPS29 alleles was also found among women with early and late-onset Parkinson's disease [59]. Indeed, earlier there were described seizures in patients with Parkinson's disease [68,69].…”

“…Brain hyperexcitability in autosomal-recessive idiopathic epilepsy was connected with cytoarchitectural alterations mediated via ArfGAP6 [58]. Moreover, it should be noted that ACAP3 belongs to the same linkage group with genes that function in the nervous system and which are associated with Parkinson's disease, Alzheimer's disease, mental retardation, neuroblastoma, myoclonus-like dystonia, spinocerebral ataxia with myoclonic seizures, and epilepsy (Table S5) [59,60].…”