부산대학교 도서관

Highlights: What are the main findings? Gene sequencing studies may reveal how the promoter region of the ATG16L1 and ATG5 genes is associated with sporadic PD patients. Most PD-related haplotypes were found for ATG16L1, suggesting a specific link between genetic variation for this promoter and the population analysed with respect to sporadic PD. What is the implication of the main finding? Some mutations within haplotypes may provide valuable information on multifactorial PD. Consequently, the architecture of certain haplotypes and ethnicities could explain the risk of PD and the neurodegenerative process. Sporadic Parkinson's disease, characterised by a decline in dopamine, usually manifests in people over 65 years of age. Although 10% of cases have a genetic (familial) basis, most PD is sporadic. Genome sequencing studies have associated several genetic variants with sporadic PD. Our aim was to analyse the promoter region of the ATG16L1 and ATG5 genes in sporadic PD patients and ethnically matched controls. Genotypes were obtained by using the Sanger method with primers designed by us. The number of haplotypes was estimated with DnaSP software, phylogeny was reconstructed in Network, and genetic divergence was explored with Fst. Seven and two haplotypes were obtained for ATG16L1 and ATG5, respectively. However, only ATG16L1 showed a significant contribution to PD and a significant excess of accumulated mutations that could influence sporadic PD disease. Of a total of seven haplotypes found, only four were unique to patients sharing the T allele (rs77820970). Recent studies using MAPT genes support the notion that the architecture of haplotypes is worthy of being considered genetically risky, as shown in our study, confirming that large-scale assessment in different populations could be relevant to understanding the role of population-specific heterogeneity. Finally, our data suggest that the architecture of certain haplotypes and ethnicity determine the risk of PD, linking haplotype variation and neurodegenerative processes. [ABSTRACT FROM AUTHOR]