PubMed:19521089 JSON TXT

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TEST-DiseaseOrPhenotypicFeature

{"project":"TEST-DiseaseOrPhenotypicFeature","denotations":[{"id":"T1","span":{"begin":87,"end":106},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":117,"end":136},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T3","span":{"begin":138,"end":140},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T4","span":{"begin":147,"end":173},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T5","span":{"begin":182,"end":199},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T6","span":{"begin":201,"end":215},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T7","span":{"begin":220,"end":232},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T8","span":{"begin":282,"end":284},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T9","span":{"begin":621,"end":623},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T10","span":{"begin":701,"end":703},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T11","span":{"begin":845,"end":847},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T12","span":{"begin":963,"end":965},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A11","pred":"#label","subj":"T11","obj":"D010300"},{"id":"A4","pred":"#label","subj":"T4","obj":"D019636"},{"id":"A12","pred":"#label","subj":"T12","obj":"D010300"},{"id":"A3","pred":"#label","subj":"T3","obj":"D010300"},{"id":"A9","pred":"#label","subj":"T9","obj":"D010300"},{"id":"A6","pred":"#label","subj":"T6","obj":"D014202"},{"id":"A2","pred":"#label","subj":"T2","obj":"D010300"},{"id":"A7","pred":"#label","subj":"T7","obj":"D018476"},{"id":"A10","pred":"#label","subj":"T10","obj":"D010300"},{"id":"A1","pred":"#label","subj":"T1","obj":"D010300"},{"id":"A5","pred":"#label","subj":"T5","obj":"D009127"},{"id":"A8","pred":"#label","subj":"T8","obj":"D010300"}],"text":"Serotonin transporter gene polymorphic element 5-HTTLPR increases the risk of sporadic Parkinson's disease in Italy.\nParkinson's disease (PD) is a neurodegenerative disorder causing muscular rigidity, resting tremor and bradykinesia. We conducted an association study assessing how PD risk in Italy was influenced by the serotonin transporter gene (SLC6A4) polymorphic region 5-HTTLPR, consisting of an insertion/deletion (long allele-L/short allele-S) of 43 bp in the SLC6A4 promoter region. The SLC6A4 promoter single nucleotide polymorphism rs25531(A--\u003eG) was evaluated too. We collected 837 independent subjects (393 PD, 444 controls). An association between the 5-HTTLPR polymorphism and risk of PD (S/S genotype OR [95% CI]: 1.7[1.2-2.5], p = 0.002) was found. The rs25531 and the haplotype 5-HTTLPR/rs25531 did not associate with risk of PD. Our data indicate that the 5-HTTLPR polymorphic element within the SLC6A4 promoter may govern the genetic risk of PD in Italians."}

TEST-ChemicalEntity

{"project":"TEST-ChemicalEntity","denotations":[{"id":"T1","span":{"begin":0,"end":9},"obj":"ChemicalEntity"},{"id":"T2","span":{"begin":321,"end":330},"obj":"ChemicalEntity"}],"attributes":[{"id":"A1","pred":"ID:","subj":"T1","obj":"http://purl.obolibrary.org/obo/CHEBI_28790"},{"id":"A2","pred":"ID:","subj":"T2","obj":"D012701"},{"id":"A3","pred":"ID:","subj":"T2","obj":"http://purl.obolibrary.org/obo/CHEBI_350546"},{"id":"A4","pred":"ID:","subj":"T2","obj":"http://purl.obolibrary.org/obo/CHEBI_28790"}],"text":"Serotonin transporter gene polymorphic element 5-HTTLPR increases the risk of sporadic Parkinson's disease in Italy.\nParkinson's disease (PD) is a neurodegenerative disorder causing muscular rigidity, resting tremor and bradykinesia. We conducted an association study assessing how PD risk in Italy was influenced by the serotonin transporter gene (SLC6A4) polymorphic region 5-HTTLPR, consisting of an insertion/deletion (long allele-L/short allele-S) of 43 bp in the SLC6A4 promoter region. The SLC6A4 promoter single nucleotide polymorphism rs25531(A--\u003eG) was evaluated too. We collected 837 independent subjects (393 PD, 444 controls). An association between the 5-HTTLPR polymorphism and risk of PD (S/S genotype OR [95% CI]: 1.7[1.2-2.5], p = 0.002) was found. The rs25531 and the haplotype 5-HTTLPR/rs25531 did not associate with risk of PD. Our data indicate that the 5-HTTLPR polymorphic element within the SLC6A4 promoter may govern the genetic risk of PD in Italians."}

Test-SequenceVariant

{"project":"Test-SequenceVariant","denotations":[{"id":"T1","span":{"begin":544,"end":551},"obj":"SequenceVariant"},{"id":"T2","span":{"begin":552,"end":557},"obj":"SequenceVariant"},{"id":"T3","span":{"begin":771,"end":778},"obj":"SequenceVariant"},{"id":"T4","span":{"begin":806,"end":813},"obj":"SequenceVariant"}],"text":"Serotonin transporter gene polymorphic element 5-HTTLPR increases the risk of sporadic Parkinson's disease in Italy.\nParkinson's disease (PD) is a neurodegenerative disorder causing muscular rigidity, resting tremor and bradykinesia. We conducted an association study assessing how PD risk in Italy was influenced by the serotonin transporter gene (SLC6A4) polymorphic region 5-HTTLPR, consisting of an insertion/deletion (long allele-L/short allele-S) of 43 bp in the SLC6A4 promoter region. The SLC6A4 promoter single nucleotide polymorphism rs25531(A--\u003eG) was evaluated too. We collected 837 independent subjects (393 PD, 444 controls). An association between the 5-HTTLPR polymorphism and risk of PD (S/S genotype OR [95% CI]: 1.7[1.2-2.5], p = 0.002) was found. The rs25531 and the haplotype 5-HTTLPR/rs25531 did not associate with risk of PD. Our data indicate that the 5-HTTLPR polymorphic element within the SLC6A4 promoter may govern the genetic risk of PD in Italians."}

Test-GeneOrGeneProduct

{"project":"Test-GeneOrGeneProduct","denotations":[{"id":"T1","span":{"begin":0,"end":21},"obj":"GeneOrGeneProduct"},{"id":"T2","span":{"begin":47,"end":55},"obj":"GeneOrGeneProduct"},{"id":"T3","span":{"begin":209,"end":215},"obj":"GeneOrGeneProduct"},{"id":"T4","span":{"begin":321,"end":342},"obj":"GeneOrGeneProduct"},{"id":"T5","span":{"begin":349,"end":355},"obj":"GeneOrGeneProduct"},{"id":"T6","span":{"begin":376,"end":384},"obj":"GeneOrGeneProduct"},{"id":"T7","span":{"begin":469,"end":484},"obj":"GeneOrGeneProduct"},{"id":"T8","span":{"begin":497,"end":512},"obj":"GeneOrGeneProduct"},{"id":"T9","span":{"begin":591,"end":594},"obj":"GeneOrGeneProduct"},{"id":"T10","span":{"begin":667,"end":675},"obj":"GeneOrGeneProduct"},{"id":"T11","span":{"begin":797,"end":805},"obj":"GeneOrGeneProduct"},{"id":"T12","span":{"begin":876,"end":884},"obj":"GeneOrGeneProduct"},{"id":"T13","span":{"begin":916,"end":931},"obj":"GeneOrGeneProduct"}],"text":"Serotonin transporter gene polymorphic element 5-HTTLPR increases the risk of sporadic Parkinson's disease in Italy.\nParkinson's disease (PD) is a neurodegenerative disorder causing muscular rigidity, resting tremor and bradykinesia. We conducted an association study assessing how PD risk in Italy was influenced by the serotonin transporter gene (SLC6A4) polymorphic region 5-HTTLPR, consisting of an insertion/deletion (long allele-L/short allele-S) of 43 bp in the SLC6A4 promoter region. The SLC6A4 promoter single nucleotide polymorphism rs25531(A--\u003eG) was evaluated too. We collected 837 independent subjects (393 PD, 444 controls). An association between the 5-HTTLPR polymorphism and risk of PD (S/S genotype OR [95% CI]: 1.7[1.2-2.5], p = 0.002) was found. The rs25531 and the haplotype 5-HTTLPR/rs25531 did not associate with risk of PD. Our data indicate that the 5-HTTLPR polymorphic element within the SLC6A4 promoter may govern the genetic risk of PD in Italians."}

Test-merged-2

tmVarCorpus

{"project":"tmVarCorpus","denotations":[{"id":"T1","span":{"begin":544,"end":551},"obj":"SNP:rs25531"},{"id":"T2","span":{"begin":552,"end":557},"obj":"DNAMutation:|SUB|A||G"},{"id":"T3","span":{"begin":771,"end":778},"obj":"SNP:rs25531"},{"id":"T4","span":{"begin":806,"end":813},"obj":"SNP:rs25531"}],"text":"Serotonin transporter gene polymorphic element 5-HTTLPR increases the risk of sporadic Parkinson's disease in Italy.\nParkinson's disease (PD) is a neurodegenerative disorder causing muscular rigidity, resting tremor and bradykinesia. We conducted an association study assessing how PD risk in Italy was influenced by the serotonin transporter gene (SLC6A4) polymorphic region 5-HTTLPR, consisting of an insertion/deletion (long allele-L/short allele-S) of 43 bp in the SLC6A4 promoter region. The SLC6A4 promoter single nucleotide polymorphism rs25531(A--\u003eG) was evaluated too. We collected 837 independent subjects (393 PD, 444 controls). An association between the 5-HTTLPR polymorphism and risk of PD (S/S genotype OR [95% CI]: 1.7[1.2-2.5], p = 0.002) was found. The rs25531 and the haplotype 5-HTTLPR/rs25531 did not associate with risk of PD. Our data indicate that the 5-HTTLPR polymorphic element within the SLC6A4 promoter may govern the genetic risk of PD in Italians."}

PubTator4TogoVar

{"project":"PubTator4TogoVar","denotations":[{"id":"38","span":{"begin":544,"end":551},"obj":"SNP"},{"id":"43","span":{"begin":771,"end":778},"obj":"SNP"},{"id":"45","span":{"begin":806,"end":813},"obj":"SNP"}],"attributes":[{"id":"A38","pred":"resolved_to","subj":"38","obj":"tmVar:rs25531;VariantGroup:0;CorrespondingGene:6532;RS#:25531;CorrespondingSpecies:9606"},{"id":"A43","pred":"resolved_to","subj":"43","obj":"tmVar:rs25531;VariantGroup:0;CorrespondingGene:6532;RS#:25531;CorrespondingSpecies:9606"},{"id":"A45","pred":"resolved_to","subj":"45","obj":"tmVar:rs25531;VariantGroup:0;CorrespondingGene:6532;RS#:25531;CorrespondingSpecies:9606"}],"text":"Serotonin transporter gene polymorphic element 5-HTTLPR increases the risk of sporadic Parkinson's disease in Italy.\nParkinson's disease (PD) is a neurodegenerative disorder causing muscular rigidity, resting tremor and bradykinesia. We conducted an association study assessing how PD risk in Italy was influenced by the serotonin transporter gene (SLC6A4) polymorphic region 5-HTTLPR, consisting of an insertion/deletion (long allele-L/short allele-S) of 43 bp in the SLC6A4 promoter region. The SLC6A4 promoter single nucleotide polymorphism rs25531(A--\u003eG) was evaluated too. We collected 837 independent subjects (393 PD, 444 controls). An association between the 5-HTTLPR polymorphism and risk of PD (S/S genotype OR [95% CI]: 1.7[1.2-2.5], p = 0.002) was found. The rs25531 and the haplotype 5-HTTLPR/rs25531 did not associate with risk of PD. Our data indicate that the 5-HTTLPR polymorphic element within the SLC6A4 promoter may govern the genetic risk of PD in Italians."}

PubTatorOnTogoVar

{"project":"PubTatorOnTogoVar","denotations":[{"id":"38","span":{"begin":544,"end":551},"obj":"SNP"},{"id":"43","span":{"begin":771,"end":778},"obj":"SNP"},{"id":"45","span":{"begin":806,"end":813},"obj":"SNP"},{"id":"T1","span":{"begin":544,"end":551},"obj":"SNP"},{"id":"T2","span":{"begin":771,"end":778},"obj":"SNP"},{"id":"T3","span":{"begin":806,"end":813},"obj":"SNP"}],"attributes":[{"id":"A38","pred":"resolved_to","subj":"38","obj":"tmVar:rs25531;VariantGroup:0;CorrespondingGene:6532;RS#:25531;CorrespondingSpecies:9606"},{"id":"A43","pred":"resolved_to","subj":"43","obj":"tmVar:rs25531;VariantGroup:0;CorrespondingGene:6532;RS#:25531;CorrespondingSpecies:9606"},{"id":"A45","pred":"resolved_to","subj":"45","obj":"tmVar:rs25531;VariantGroup:0;CorrespondingGene:6532;RS#:25531;CorrespondingSpecies:9606"},{"id":"A1","pred":"resolved_to","subj":"T1","obj":"tmVar:rs25531;VariantGroup:0;CorrespondingGene:6532;RS#:25531;CorrespondingSpecies:9606"},{"id":"A2","pred":"resolved_to","subj":"T2","obj":"tmVar:rs25531;VariantGroup:0;CorrespondingGene:6532;RS#:25531;CorrespondingSpecies:9606"},{"id":"A3","pred":"resolved_to","subj":"T3","obj":"tmVar:rs25531;VariantGroup:0;CorrespondingGene:6532;RS#:25531;CorrespondingSpecies:9606"}],"text":"Serotonin transporter gene polymorphic element 5-HTTLPR increases the risk of sporadic Parkinson's disease in Italy.\nParkinson's disease (PD) is a neurodegenerative disorder causing muscular rigidity, resting tremor and bradykinesia. We conducted an association study assessing how PD risk in Italy was influenced by the serotonin transporter gene (SLC6A4) polymorphic region 5-HTTLPR, consisting of an insertion/deletion (long allele-L/short allele-S) of 43 bp in the SLC6A4 promoter region. The SLC6A4 promoter single nucleotide polymorphism rs25531(A--\u003eG) was evaluated too. We collected 837 independent subjects (393 PD, 444 controls). An association between the 5-HTTLPR polymorphism and risk of PD (S/S genotype OR [95% CI]: 1.7[1.2-2.5], p = 0.002) was found. The rs25531 and the haplotype 5-HTTLPR/rs25531 did not associate with risk of PD. Our data indicate that the 5-HTTLPR polymorphic element within the SLC6A4 promoter may govern the genetic risk of PD in Italians."}