The NOS3 G894T (Glu298Asp) polymorphism is a risk factor for frontotemporal lobar degeneration.
OBJECTIVE
Neuronal nitric oxide synthase (NOS)1 C276T polymorphism was shown to increase the risk for frontotemporal lobar degeneration (FTLD). In the brain, both NOS1 and NOS3 (endothelial isoform) have been detected. The distribution of NOS3 G894T (Glu298Asp) and T-786C single nucleotide polymorphisms (SNPs) was analyzed in a population of 222 patients with FTLD compared with 218 age-matched controls to determine whether they could influence the susceptibility to develop the disease.


RESULTS
A statistically significant increased frequency of the NOS3 G894T SNP was observed in patients as compared with controls (40.0 vs. 31.4%, P = 0.011, OR: 1.65, CI: 1.13-2.42). Conversely, the distribution of the T-786C SNP was similar in patients and controls. No differences were observed stratifying according to gender.


CONCLUSIONS
The NOS3 G894T polymorphism likely acts as risk factor for sporadic FTLD, but studies in larger populations are needed to confirm these preliminary findings.
Venturelli
E
E
Department of Neurological Sciences, 'Dino Ferrari' Center, University of Milan, IRCCS Fondazione Ospedale Maggiore Policlinico, Milan, Italy.
Villa
C
C
Fenoglio
C
C
Clerici
F
F
Marcone
A
A
Ghidoni
R
R
Cortini
F
F
Scalabrini
D
D
Gallone
S
S
Rainero
I
I
Mandelli
A
A
Restelli
I
I
Binetti
G
G
Cappa
S
S
Mariani
C
C
Giordana
M T
MT
Bresolin
N
N
Scarpini
E
E
Galimberti
D
D
D000368:Aged; D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D005260:Female; D057174:Frontotemporal Lobar Degeneration / Q000201:enzymology* / Q000453:epidemiology / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics*; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D008297:Male; D008875:Middle Aged; D052250:Nitric Oxide Synthase Type III / Q000172:deficiency / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011247:Pregnancy; D012307:Risk Factors
C496314:NOS3 protein, human; D052250:Nitric Oxide Synthase Type III