Abstract
The neuronal nitric oxide synthase (nNOS) is abundantly expressed in the brain and its transcripts have been found in the frontal cerebral cortex. Eighty-nine patients with different neurodegenerative tau-related disorders, including 71 patients with frontotemporal lobar degeneration (FTLD), 12 with progressive supranuclear palsy (PSP) and 6 with corticobasal degeneration (CBD), were genotyped for the C276T single nucleotide polymorphism (SNP) in exon 29 of the nNOS gene and compared with 190 age-matched controls (CON). A significantly increased allelic frequency of the T allele was observed in patients compared with CON (40.4% vs. 29.7%, P = 0.014, OR: 1.94, CI: 1.15-3.27). Considering each disorder separately, significance was reached for FTLD only (39.4%, P = 0.0248 versus controls, OR: 1.96, CI: 1.11-3.47). However, the frequency of the T allele was elevated also in patients with PSP (45.8%) and CBD (41.7%). No differences were observed stratifying according to gender or apolipoprotein E status. The C276T SNP acts as risk factor for sporadic FTLD, possibly influencing NOS1 transcription. Studies in larger populations are needed to confirm its role in PSP and CBD.
| Original language | English |
|---|---|
| Pages (from-to) | 77-81 |
| Number of pages | 5 |
| Journal | European Journal of Neurology |
| Volume | 15 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - Jan 2008 |
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Keywords
- Corticobasal degeneration
- Frontotemporal lobar degeneration
- Neuronal nitric oxide synthase
- Polymorphism
- Progressive supranuclear palsy
- Risk factor
ASJC Scopus subject areas
- Clinical Neurology
- Neuroscience(all)
Cite this
Neuronal nitric oxide synthase C276T polymorphism increases the risk for frontotemporal lobar degeneration. / Venturelli, E.; Villa, C.; Scarpini, E.; Fenoglio, C.; Guidi, I.; Lovati, C.; Marcone, A.; Cortini, F.; Scalabrini, D.; Clerici, F.; Bresolin, N.; Mariani, C.; Cappa, S.; Galimberti, D.
In: European Journal of Neurology, Vol. 15, No. 1, 01.2008, p. 77-81.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Neuronal nitric oxide synthase C276T polymorphism increases the risk for frontotemporal lobar degeneration
AU - Venturelli, E.
AU - Villa, C.
AU - Scarpini, E.
AU - Fenoglio, C.
AU - Guidi, I.
AU - Lovati, C.
AU - Marcone, A.
AU - Cortini, F.
AU - Scalabrini, D.
AU - Clerici, F.
AU - Bresolin, N.
AU - Mariani, C.
AU - Cappa, S.
AU - Galimberti, D.
PY - 2008/1
Y1 - 2008/1
N2 - The neuronal nitric oxide synthase (nNOS) is abundantly expressed in the brain and its transcripts have been found in the frontal cerebral cortex. Eighty-nine patients with different neurodegenerative tau-related disorders, including 71 patients with frontotemporal lobar degeneration (FTLD), 12 with progressive supranuclear palsy (PSP) and 6 with corticobasal degeneration (CBD), were genotyped for the C276T single nucleotide polymorphism (SNP) in exon 29 of the nNOS gene and compared with 190 age-matched controls (CON). A significantly increased allelic frequency of the T allele was observed in patients compared with CON (40.4% vs. 29.7%, P = 0.014, OR: 1.94, CI: 1.15-3.27). Considering each disorder separately, significance was reached for FTLD only (39.4%, P = 0.0248 versus controls, OR: 1.96, CI: 1.11-3.47). However, the frequency of the T allele was elevated also in patients with PSP (45.8%) and CBD (41.7%). No differences were observed stratifying according to gender or apolipoprotein E status. The C276T SNP acts as risk factor for sporadic FTLD, possibly influencing NOS1 transcription. Studies in larger populations are needed to confirm its role in PSP and CBD.
AB - The neuronal nitric oxide synthase (nNOS) is abundantly expressed in the brain and its transcripts have been found in the frontal cerebral cortex. Eighty-nine patients with different neurodegenerative tau-related disorders, including 71 patients with frontotemporal lobar degeneration (FTLD), 12 with progressive supranuclear palsy (PSP) and 6 with corticobasal degeneration (CBD), were genotyped for the C276T single nucleotide polymorphism (SNP) in exon 29 of the nNOS gene and compared with 190 age-matched controls (CON). A significantly increased allelic frequency of the T allele was observed in patients compared with CON (40.4% vs. 29.7%, P = 0.014, OR: 1.94, CI: 1.15-3.27). Considering each disorder separately, significance was reached for FTLD only (39.4%, P = 0.0248 versus controls, OR: 1.96, CI: 1.11-3.47). However, the frequency of the T allele was elevated also in patients with PSP (45.8%) and CBD (41.7%). No differences were observed stratifying according to gender or apolipoprotein E status. The C276T SNP acts as risk factor for sporadic FTLD, possibly influencing NOS1 transcription. Studies in larger populations are needed to confirm its role in PSP and CBD.
KW - Corticobasal degeneration
KW - Frontotemporal lobar degeneration
KW - Neuronal nitric oxide synthase
KW - Polymorphism
KW - Progressive supranuclear palsy
KW - Risk factor
UR - http://www.scopus.com/inward/record.url?scp=37249088904&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=37249088904&partnerID=8YFLogxK
U2 - 10.1111/j.1468-1331.2007.02007.x
DO - 10.1111/j.1468-1331.2007.02007.x
M3 - Article
C2 - 18042235
AN - SCOPUS:37249088904
VL - 15
SP - 77
EP - 81
JO - European Journal of Neurology
JF - European Journal of Neurology
SN - 1351-5101
IS - 1
ER -