Age at onset in Huntington's disease: replication study on the association of HAP1.
In recent years two association studies investigating the HAP1 T441M (rs4523977) polymorphism as a potential modifying factor of the age at onset (AAO) of Huntington's disease (HD), have been reported. Initially evidence for association was found between the M441 risk allele and the AAO. Subsequently, a second study, although failing to replicate these findings, found evidence for association between the same risk allele and AAO of motor symptoms (mAAO). In the present study, the role of the HAP1 T441M polymorphism as a modifier of the AAO in HD was investigated in a cohort of 298 Greek HD patients. In this cohort the CAG repeat number accounted for 55% of the variance in AAO. No association was found between the HAP1 T441M polymorphism and the AAO of HD.
Neurogenetics Unit, Department of Neurology, Eginition Hospital, University of Athens, 74 Vas. Sofias Av., 11528 Athens, Greece. gkaradim@med.uoa.gr
Georgia
G
Karadima
Christina
C
Dimovasili
Georgios
G
Koutsis
Demetris
D
Vassilopoulos
Marios
M
Panas
D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D005838:Genotype; D006115:Greece / Q000453:epidemiology; D006639:Histidine / Q000235:genetics; D006801:Humans; D006816:Huntington Disease / Q000453:epidemiology* / Q000235:genetics*; D008297:Male; D008715:Methionine / Q000235:genetics; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics*; D019680:Trinucleotide Repeat Expansion / Q000235:genetics
C096896:HAP1 protein, human; D009419:Nerve Tissue Proteins; D006639:Histidine; D008715:Methionine