Alpha-1-antichymotrypsin gene polymorphism and susceptibility to multiple system atrophy (MSA).
We investigated three genotypes (AA, AT, and TT) produced by signal peptide polymorphism of the alpha-1-antichymotrypsin (ACT) gene in 105 patients with multiple system atrophy (MSA) and age-matched controls. The frequency of ACT-AA genotype was significantly higher in patients with MSA (20.0%) than in controls (10.5%). The onset of MSA was significantly earlier and the disease progressed significantly faster in patients with ACT-AA genotype than in those with non-ACT-AA genotypes. The ACT concentration in cerebrospinal fluid was increased in patients with ACT-AA. To our knowledge, this is the first study to show that the ACT-AA genotype is a risk factor and modulating factor for MSA. Our findings suggest the involvement of ACT-relating inflammatory process in the pathogenesis of MSA.
Furiya
Yoshiko
Y
Department of Neurology, Nara Medical University, Medial School, Kashihara, Nara 634-8521, Japan. yoshikof@naramed-u.ac.jp
Hirano
Makito
M
Kurumatani
Norio
N
Nakamuro
Takuya
T
Matsumura
Ryusuke
R
Futamura
Naonobu
N
Ueno
Satoshi
S
D017668:Age of Onset; D000368:Aged; D001921:Brain / Q000378:metabolism* / Q000473:pathology / Q000503:physiopathology; D004252:DNA Mutational Analysis; D004660:Encephalitis / Q000134:cerebrospinal fluid / Q000235:genetics / Q000503:physiopathology; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D019578:Multiple System Atrophy / Q000134:cerebrospinal fluid / Q000235:genetics* / Q000503:physiopathology; D011110:Polymorphism, Genetic / Q000235:genetics*; D000514:alpha 1-Antichymotrypsin / Q000134:cerebrospinal fluid / Q000235:genetics*
D000514:alpha 1-Antichymotrypsin