title: Werner helicase polymorphism is not associated with Alzheimer's disease.
abstract: Alzheimer disease (AD) is the most common neurodegenerative disorder in the elderly and is also considered a progeroid genetic syndrome. The etiology of AD is complex and the mechanisms underlying its pathophysiology remains to be clarified. Werner syndrome (WS) is a rare autosomal recessive disorder characterized as a segmental progeroid syndrome. The gene (WRN) was recently identified. Its product acts as a DNA helicase and exonuclease. This study investigates the association of AD with the WRN 1367 polymorphisms in samples of 67 DA patients, 56 elderly healthy and 66 young healthy controls. DNA was isolated from blood cells, amplified by PCR and digested with PmaCI. We observed that the genotype distributions of WRN 1367 variants were within Hardy-Weinberg equilibrium in all subject samples. Furthermore, chi-square test comparison for genotype distributions and allele frequencies did not reveal any significant difference among the three groups of subjects (P>0.05). These results support the idea that these variants are not involved as a risk factor for developing AD.
authors.affiliation: Disciplina de Biologia Molecular, Hemocentro FAMEMA, Faculdade de Medicina de Marília, Marília, São Paulo, Brasil.
authors.forename: Spencer Luiz Marques
authors.initials: SL
authors.lastname: Payão
authors.forename: Roger Willian
authors.initials: RW
authors.lastname: de Labio
authors.forename: Luciano Lobo
authors.initials: LL
authors.lastname: Gatti
authors.forename: Valdeci O S
authors.initials: VO
authors.lastname: Rigolin
authors.forename: Paulo H F
authors.initials: PH
authors.lastname: Bertolucci
authors.forename: Marília de A C
authors.initials: Mde A
authors.lastname: Smith
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology; D016009:Chi-Square Distribution; D002869:Chromosome Aberrations; D004265:DNA Helicases / Q000235:genetics*; D015252:Deoxyribonucleases, Type II Site-Specific; D004587:Electrophoresis, Agar Gel; D005090:Exodeoxyribonucleases; D005787:Gene Frequency; D005808:Genes, Recessive / Q000235:genetics; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D008875:Middle Aged; D016133:Polymerase Chain Reaction / Q000379:methods; D011110:Polymorphism, Genetic; D053484:RecQ Helicases; D012307:Risk Factors; D000071657:Werner Syndrome Helicase
chemical_list: D005090:Exodeoxyribonucleases; C048066:endodeoxyribonuclease PmaCI; D015252:Deoxyribonucleases, Type II Site-Specific; D004265:DNA Helicases; D053484:RecQ Helicases; C098785:WRN protein, human; D000071657:Werner Syndrome Helicase