Screening For Mutations In The Coding Regions Of PSEN1 Gene, 16-17 Exons Of APP Gene And APOE Genotyping In Patients With Alzheimer’s Disease

Abstract

The aim of this study is to screen for mutations in the presenilin-1 (PSEN1) gene,16-17 exons of amyloid precursor protein (APP) gene and determining apolipoprotein-E (APOE) genotype in patients with Alzheimer's disease (AD). The coding regions of PSEN1 gene, 16-17 exons of APP gene were screened by using DNA sequence analysis in 30 patients with late onset of Alzheimer's disease (LOAD) diagnosed based on Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DSM-IV) criteria and 40 non-dementia controls. Additionally, genotype and allele frequencies of ε2, ε3 and ε4 polymorphisms of APOE gene were determined by using PCR-RFLP methods in both groups. No mutation was found in the coding regions of PSEN1 gene and 16-17 exons of APP gene. On the other hand, rs165932 (G/T) polymorphism was found in intron 8 of PSEN1 in 26 patients. There was no significant difference in genotype and allele frequencies of intronic polymorphism between control group and patients (p>0.05). The frequency of ε3/ε4 genotype was significantly higher in patient group (p<0.05) and frequencies of ε4 allele were also significantly higher among the patients with LOAD (p<0.05). When PSEN1 genotype distribution and ε4 allele frequency were evaluated together in the patient group, no significant relation was found (p>0.05). We suggested that there was a potential association between LOAD and APOE ε4 allele; however, no result could found to link the between PSEN1 gene polymorphism and disease pathogenesis.

Alzheimer Disease Associated Loci: APOE Single Nucleotide Polymorphisms in Marmara Region

“…We conducted a comprehensive review to analyze APOE data within the healthy population of Turkey and compare the findings with our own results. From the total sample size of 1008, six articles and a thesis yielded findings closely aligned with our own data as seen in Table 7 [28][29][30][31][32][33]. During the course of the study, it was discovered that many of the same individuals had two or three polymorphisms at the same time.…”