H1-MAPT and the risk for familial essential tremor.
The most frequent MAPT H1 haplotype is associated with the risk for developing progressive supranuclear palsy and other neurodegenerative diseases such as Parkinson's disease. A recent report suggests that the MAPT H1 is associated with the risk for developing essential tremor. We wanted to confirm this association in a different population. We analyzed the distribution of allelic and genotype frequencies of rs1052553, which is an H1/H2 SNP, in 200 subjects with familial ET and 291 healthy controls. rs1052553 genotype and allelic frequencies did not differ significantly between subjects with ET and controls and were unrelated with the age at onset of tremor or gender, and with the presence of head, voice, chin, and tongue tremor. Our study suggests that the MAPT H1 rs1052553 is not associated with the risk for developing familial ET in the Spanish population.
Department of Biochemistry and Molecular Biology, Universidad de Extremadura, Cáceres, Spain.
Elena
E
García-Martín
Carmen
C
Martínez
Hortensia
H
Alonso-Navarro
Julián
J
Benito-León
Oswaldo
O
Lorenzo-Betancor
Pau
P
Pastor
Tomás
T
López-Alburquerque
Lluis
L
Samaranch
Elena
E
Lorenzo
José A G
JA
Agúndez
Félix Javier
FJ
Jiménez-Jiménez
D000368:Aged; D000483:Alleles; D016022:Case-Control Studies; D020329:Essential Tremor / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D012307:Risk Factors; D016875:tau Proteins / Q000235:genetics*
C054369:MAPT protein, human; D016875:tau Proteins