ABSTRACT
The identification of polymorphism A4059V associated with the 12276 A>G at exon 45 of the PKD1 gene in a Tunisian polycystic patient.
Subject(s)
Polycystic Kidney, Autosomal Dominant/genetics , Polycystic Kidney, Autosomal Dominant/pathology , Polymorphism, Single Nucleotide , TRPP Cation Channels/genetics , Base Sequence , Humans , Male , Middle Aged , TunisiaSubject(s)
Cystic Fibrosis Transmembrane Conductance Regulator/genetics , Cystic Fibrosis/diagnosis , Frameshift Mutation , Base Sequence , Case-Control Studies , Cystic Fibrosis/genetics , Female , Genetic Association Studies , Genetic Counseling , Humans , Infant , Molecular Diagnostic Techniques , Molecular Sequence Data , Pedigree , Sequence Analysis, DNA , Sequence Deletion , TunisiaABSTRACT
We examined the potential involvement of the polymorphism in intron 8 of the presenilin-1 (PSEN1) gene as a risk factor for Alzheimer disease (AD), both through independent effect and interaction with the apolipoprotein E (APOE) ε4 allele risk, in 85 patients and 90 controls. We found no significant differences in the distribution of PSEN1 genotype and allele frequency between both groups; and post stratification distribution with APOE ε4 allele. Age of onset suggests that this polymorphism influences AD progression.
Subject(s)
Alzheimer Disease/epidemiology , Alzheimer Disease/genetics , Polymorphism, Genetic/genetics , Presenilin-1/genetics , Age of Onset , Aged , Aged, 80 and over , Alleles , Apolipoproteins E/genetics , DNA/genetics , Female , Genotype , Humans , Male , Tunisia/epidemiologyABSTRACT
The goal of the study was to examine the Apolipoprotein E (APOE) genotypes in a Tunisian sample of patients with Alzheimer disease (AD) and normal controls, and to compare the results with the findings from the literature. A hospital-based case-control study of two groups (58 patients with AD, 71 controls) was conducted. Patients received a detailed clinical history, neurological examination, neuropsychological testing and brain imaging. A neurological examination and the Arabic version of the Mini-Mental State Examination were made for controls. Genotyping was performed using the PCR restriction fragment length polymorphism (PCR-RFLP) method. There were no statistical differences in age (p = 0.05) and gender (p = 0.046) between the two groups. The APOE ε4/4 genotype was over represented in the AD group in comparison with the controls (13.3 vs. 2.8%). A significant increased risk of AD among APOE ε4 allele carriers was observed. The odds ratio for the association of AD patients with homozygous and heterozygous ε4 allele was, respectively, 5.40 (1.35-21.48) and 2.90 (1.27-6.62). Our results in addition to previously published genetic studies suggest that AD disease is multifactor in origin. Ethnicity, genetic and environmental factors contribute to AD risk in different ethnic groups.
