PubMed:25111979 JSONTXT

{"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":213,"end":222},"obj":"HP_0001300"},{"id":"T2","span":{"begin":994,"end":1007},"obj":"HP_0010885"},{"id":"T3","span":{"begin":1097,"end":1103},"obj":"HP_0001337"}],"text":"α-Synuclein rs356219 polymorphisms in patients with Gaucher disease and Parkinson disease.\nMutations in β-glucocerebrosidase, the genetic defect in Gaucher disease (GD), are an important susceptibility factor for Parkinson disease (PD). A PD effector is α-synuclein (SNCA) hypothesized to selectively interact with β-glucocerebrosidase under lysosomal conditions. SNCA polymorphism rs356219 may be associated with early-age-onset PD, common among patients with GD+PD. The objective of this study was to ascertain rs356219 genotypes of GD+PD patients. All GD+PD patients at our Gaucher referral clinic were asked to participate. A GD-only sex-, age-, GD genotype-, and enzyme therapy (ERT)-matched control was found for each GD+PD participant. Student's t-test was used (p-value \u003c0.05 as significant). There were 14 GD+PD patients: all Ashkenazi Jewish; 11 males (78.6%); mean (range) age diagnosed GD 34.2 (5-62) years; 50% N370S homozygous; mild to moderate GD; 3 asplenic and only these have osteonecrosis; 5 received ERT; mean age (range) diagnosed PD was 57.8 (43-70) years; first PD sign was tremor in 9 (64.3%); cognitive dysfunction in all. In GD+PD, frequency for AG+GG (9) was greater than AA (5); in GD only, there was equality (7). Odds Ratio risk for PD increases with number minor alleles: but not significantly greater among GD+PD than GD only; in aggregate, there was no difference between cohorts for frequency of minor alleles. The limitation of this study is few GD+PD, albeit virtually all the GD+PD cohort \u003e500 adult GD patients in our clinic. Nonetheless, as a foray into potential genetic GD susceptibility for a synucleinopathy, this study suggests the need for collaboration to achieve larger sample size."}

{"project":"DisGeNET5_variant_disease","denotations":[{"id":"25111979-0#12#20#geners356219","span":{"begin":12,"end":20},"obj":"geners356219"},{"id":"25111979-0#72#89#diseaseC0030567","span":{"begin":72,"end":89},"obj":"diseaseC0030567"}],"relations":[{"id":"12#20#geners35621972#89#diseaseC0030567","pred":"associated_with","subj":"25111979-0#12#20#geners356219","obj":"25111979-0#72#89#diseaseC0030567"}],"text":"α-Synuclein rs356219 polymorphisms in patients with Gaucher disease and Parkinson disease.\nMutations in β-glucocerebrosidase, the genetic defect in Gaucher disease (GD), are an important susceptibility factor for Parkinson disease (PD). A PD effector is α-synuclein (SNCA) hypothesized to selectively interact with β-glucocerebrosidase under lysosomal conditions. SNCA polymorphism rs356219 may be associated with early-age-onset PD, common among patients with GD+PD. The objective of this study was to ascertain rs356219 genotypes of GD+PD patients. All GD+PD patients at our Gaucher referral clinic were asked to participate. A GD-only sex-, age-, GD genotype-, and enzyme therapy (ERT)-matched control was found for each GD+PD participant. Student's t-test was used (p-value \u003c0.05 as significant). There were 14 GD+PD patients: all Ashkenazi Jewish; 11 males (78.6%); mean (range) age diagnosed GD 34.2 (5-62) years; 50% N370S homozygous; mild to moderate GD; 3 asplenic and only these have osteonecrosis; 5 received ERT; mean age (range) diagnosed PD was 57.8 (43-70) years; first PD sign was tremor in 9 (64.3%); cognitive dysfunction in all. In GD+PD, frequency for AG+GG (9) was greater than AA (5); in GD only, there was equality (7). Odds Ratio risk for PD increases with number minor alleles: but not significantly greater among GD+PD than GD only; in aggregate, there was no difference between cohorts for frequency of minor alleles. The limitation of this study is few GD+PD, albeit virtually all the GD+PD cohort \u003e500 adult GD patients in our clinic. Nonetheless, as a foray into potential genetic GD susceptibility for a synucleinopathy, this study suggests the need for collaboration to achieve larger sample size."}

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"25111979-1#13#33#gene2629","span":{"begin":104,"end":124},"obj":"gene2629"},{"id":"25111979-1#57#72#diseaseC0017205","span":{"begin":148,"end":163},"obj":"diseaseC0017205"},{"id":"25111979-1#74#76#diseaseC0017205","span":{"begin":165,"end":167},"obj":"diseaseC0017205"},{"id":"25111979-2#78#98#gene2629","span":{"begin":315,"end":335},"obj":"gene2629"},{"id":"25111979-2#2#4#diseaseC0030567","span":{"begin":239,"end":241},"obj":"diseaseC0030567"}],"relations":[{"id":"13#33#gene262957#72#diseaseC0017205","pred":"associated_with","subj":"25111979-1#13#33#gene2629","obj":"25111979-1#57#72#diseaseC0017205"},{"id":"13#33#gene262974#76#diseaseC0017205","pred":"associated_with","subj":"25111979-1#13#33#gene2629","obj":"25111979-1#74#76#diseaseC0017205"},{"id":"78#98#gene26292#4#diseaseC0030567","pred":"associated_with","subj":"25111979-2#78#98#gene2629","obj":"25111979-2#2#4#diseaseC0030567"}],"text":"α-Synuclein rs356219 polymorphisms in patients with Gaucher disease and Parkinson disease.\nMutations in β-glucocerebrosidase, the genetic defect in Gaucher disease (GD), are an important susceptibility factor for Parkinson disease (PD). A PD effector is α-synuclein (SNCA) hypothesized to selectively interact with β-glucocerebrosidase under lysosomal conditions. SNCA polymorphism rs356219 may be associated with early-age-onset PD, common among patients with GD+PD. The objective of this study was to ascertain rs356219 genotypes of GD+PD patients. All GD+PD patients at our Gaucher referral clinic were asked to participate. A GD-only sex-, age-, GD genotype-, and enzyme therapy (ERT)-matched control was found for each GD+PD participant. Student's t-test was used (p-value \u003c0.05 as significant). There were 14 GD+PD patients: all Ashkenazi Jewish; 11 males (78.6%); mean (range) age diagnosed GD 34.2 (5-62) years; 50% N370S homozygous; mild to moderate GD; 3 asplenic and only these have osteonecrosis; 5 received ERT; mean age (range) diagnosed PD was 57.8 (43-70) years; first PD sign was tremor in 9 (64.3%); cognitive dysfunction in all. In GD+PD, frequency for AG+GG (9) was greater than AA (5); in GD only, there was equality (7). Odds Ratio risk for PD increases with number minor alleles: but not significantly greater among GD+PD than GD only; in aggregate, there was no difference between cohorts for frequency of minor alleles. The limitation of this study is few GD+PD, albeit virtually all the GD+PD cohort \u003e500 adult GD patients in our clinic. Nonetheless, as a foray into potential genetic GD susceptibility for a synucleinopathy, this study suggests the need for collaboration to achieve larger sample size."}

{"project":"PubTator4TogoVar","denotations":[{"id":"6","span":{"begin":12,"end":20},"obj":"SNP"},{"id":"64","span":{"begin":382,"end":390},"obj":"SNP"},{"id":"68","span":{"begin":513,"end":521},"obj":"SNP"}],"attributes":[{"id":"A6","pred":"resolved_to","subj":"6","obj":"tmVar:rs356219;VariantGroup:0;RS#:356219"},{"id":"A64","pred":"resolved_to","subj":"64","obj":"tmVar:rs356219;VariantGroup:0;RS#:356219"},{"id":"A68","pred":"resolved_to","subj":"68","obj":"tmVar:rs356219;VariantGroup:0;RS#:356219"}],"text":"α-Synuclein rs356219 polymorphisms in patients with Gaucher disease and Parkinson disease.\nMutations in β-glucocerebrosidase, the genetic defect in Gaucher disease (GD), are an important susceptibility factor for Parkinson disease (PD). A PD effector is α-synuclein (SNCA) hypothesized to selectively interact with β-glucocerebrosidase under lysosomal conditions. SNCA polymorphism rs356219 may be associated with early-age-onset PD, common among patients with GD+PD. The objective of this study was to ascertain rs356219 genotypes of GD+PD patients. All GD+PD patients at our Gaucher referral clinic were asked to participate. A GD-only sex-, age-, GD genotype-, and enzyme therapy (ERT)-matched control was found for each GD+PD participant. Student's t-test was used (p-value \u003c0.05 as significant). There were 14 GD+PD patients: all Ashkenazi Jewish; 11 males (78.6%); mean (range) age diagnosed GD 34.2 (5-62) years; 50% N370S homozygous; mild to moderate GD; 3 asplenic and only these have osteonecrosis; 5 received ERT; mean age (range) diagnosed PD was 57.8 (43-70) years; first PD sign was tremor in 9 (64.3%); cognitive dysfunction in all. In GD+PD, frequency for AG+GG (9) was greater than AA (5); in GD only, there was equality (7). Odds Ratio risk for PD increases with number minor alleles: but not significantly greater among GD+PD than GD only; in aggregate, there was no difference between cohorts for frequency of minor alleles. The limitation of this study is few GD+PD, albeit virtually all the GD+PD cohort \u003e500 adult GD patients in our clinic. Nonetheless, as a foray into potential genetic GD susceptibility for a synucleinopathy, this study suggests the need for collaboration to achieve larger sample size."}

{"project":"PubTatorOnTogoVar","denotations":[{"id":"6","span":{"begin":12,"end":20},"obj":"SNP"},{"id":"64","span":{"begin":382,"end":390},"obj":"SNP"},{"id":"68","span":{"begin":513,"end":521},"obj":"SNP"},{"id":"T1","span":{"begin":12,"end":20},"obj":"SNP"},{"id":"T1","span":{"begin":382,"end":390},"obj":"SNP"},{"id":"T2","span":{"begin":513,"end":521},"obj":"SNP"}],"attributes":[{"id":"A6","pred":"resolved_to","subj":"6","obj":"tmVar:rs356219;VariantGroup:0;RS#:356219"},{"id":"A64","pred":"resolved_to","subj":"64","obj":"tmVar:rs356219;VariantGroup:0;RS#:356219"},{"id":"A68","pred":"resolved_to","subj":"68","obj":"tmVar:rs356219;VariantGroup:0;RS#:356219"},{"id":"A1","pred":"resolved_to","subj":"T1","obj":"tmVar:rs356219;VariantGroup:0;RS#:356219"},{"id":"A1","pred":"resolved_to","subj":"T1","obj":"tmVar:rs356219;VariantGroup:0;RS#:356219"},{"id":"A2","pred":"resolved_to","subj":"T2","obj":"tmVar:rs356219;VariantGroup:0;RS#:356219"}],"text":"α-Synuclein rs356219 polymorphisms in patients with Gaucher disease and Parkinson disease.\nMutations in β-glucocerebrosidase, the genetic defect in Gaucher disease (GD), are an important susceptibility factor for Parkinson disease (PD). A PD effector is α-synuclein (SNCA) hypothesized to selectively interact with β-glucocerebrosidase under lysosomal conditions. SNCA polymorphism rs356219 may be associated with early-age-onset PD, common among patients with GD+PD. The objective of this study was to ascertain rs356219 genotypes of GD+PD patients. All GD+PD patients at our Gaucher referral clinic were asked to participate. A GD-only sex-, age-, GD genotype-, and enzyme therapy (ERT)-matched control was found for each GD+PD participant. Student's t-test was used (p-value \u003c0.05 as significant). There were 14 GD+PD patients: all Ashkenazi Jewish; 11 males (78.6%); mean (range) age diagnosed GD 34.2 (5-62) years; 50% N370S homozygous; mild to moderate GD; 3 asplenic and only these have osteonecrosis; 5 received ERT; mean age (range) diagnosed PD was 57.8 (43-70) years; first PD sign was tremor in 9 (64.3%); cognitive dysfunction in all. In GD+PD, frequency for AG+GG (9) was greater than AA (5); in GD only, there was equality (7). Odds Ratio risk for PD increases with number minor alleles: but not significantly greater among GD+PD than GD only; in aggregate, there was no difference between cohorts for frequency of minor alleles. The limitation of this study is few GD+PD, albeit virtually all the GD+PD cohort \u003e500 adult GD patients in our clinic. Nonetheless, as a foray into potential genetic GD susceptibility for a synucleinopathy, this study suggests the need for collaboration to achieve larger sample size."}