title: The prion protein M129V polymorphism: longevity and cognitive impairment among Polish centenarians.
abstract: The PRNP gene encodes the cellular isoform of prion protein (PrP (c) ). The M129V polymorphism influences the risk of prion diseases and may modulate the rate of neurodegeneration with age. We present the first study of the polymorphism among Polish centenarians. In the control group (n = 165, ages 18 to 56 years) the observed M129V genotype frequencies agreed with those expected according to the Hardy-Weinberg equilibrium (MM, MV, VV): 43%, 44%, 13% (HWE p > 0.05). Among centenarians (n = 150, ages 100 to 107) both homozygotes were more common than expected and HWE was rejected: 46%, 37%, 17% (expected 42%, 46%, 13%; HWE p = 0.025). This finding is consistent with a higher mortality rate among heterozygotes. However, the observed allele and genotype frequencies did not differ significantly between the oldest-old and the young controls. The genotypic frequencies were not related to severe cognitive impairment among the centenarians.
authors: Department of Molecular Pathology and Neuropathology, Medical University of Lodz, Lodz, Poland. ewa.golanska@umed.lodz.pl
authors: Ewa
authors: E
authors: Golanska
authors: Monika
authors: M
authors: Sieruta
authors: Elizabeth
authors: E
authors: Corder
authors: Sylwia M
authors: SM
authors: Gresner
authors: Anna
authors: A
authors: Pfeffer
authors: Malgorzata
authors: M
authors: Chodakowska-Zebrowska
authors: Tomasz M
authors: TM
authors: Sobow
authors: Izabela
authors: I
authors: Klich
authors: Malgorzata
authors: M
authors: Mossakowska
authors: Aleksandra
authors: A
authors: Szybinska
authors: Maria
authors: M
authors: Barcikowska
authors: Pawel P
authors: PP
authors: Liberski
mesh_terms: D000293:Adolescent; D000328:Adult; D000369:Aged, 80 and over; D003072:Cognition Disorders / Q000235:genetics*; D005260:Female; D006720:Homozygote; D006801:Humans; D008136:Longevity; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D011328:Prions / Q000235:genetics*; D044465:White People / Q000235:genetics; D055815:Young Adult
chemical_list: D011328:Prions
keywords: M129V; PRNP; centenarians; codon 129 polymorphism; cognitive impairment; genetic epidemiology; longevity; selective mortality