PubMed:23857226 JSONTXT

{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":28,"end":33},"obj":"gene:6573"},{"id":"T1","span":{"begin":95,"end":108},"obj":"disease:C0013080"},{"id":"T2","span":{"begin":237,"end":242},"obj":"gene:6573"},{"id":"T3","span":{"begin":327,"end":329},"obj":"disease:C0013080"},{"id":"T4","span":{"begin":237,"end":242},"obj":"gene:6573"},{"id":"T5","span":{"begin":312,"end":325},"obj":"disease:C0013080"},{"id":"T6","span":{"begin":210,"end":217},"obj":"gene:6573"},{"id":"T7","span":{"begin":327,"end":329},"obj":"disease:C0013080"},{"id":"T8","span":{"begin":210,"end":217},"obj":"gene:6573"},{"id":"T9","span":{"begin":312,"end":325},"obj":"disease:C0013080"},{"id":"T10","span":{"begin":1043,"end":1050},"obj":"gene:138883"},{"id":"T11","span":{"begin":797,"end":799},"obj":"disease:C0013080"},{"id":"T12","span":{"begin":1294,"end":1299},"obj":"gene:6573"},{"id":"T13","span":{"begin":1385,"end":1387},"obj":"disease:C0013080"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"},{"id":"R2","pred":"associated_with","subj":"T2","obj":"T3"},{"id":"R3","pred":"associated_with","subj":"T4","obj":"T5"},{"id":"R4","pred":"associated_with","subj":"T6","obj":"T7"},{"id":"R5","pred":"associated_with","subj":"T8","obj":"T9"},{"id":"R6","pred":"associated_with","subj":"T10","obj":"T11"},{"id":"R7","pred":"associated_with","subj":"T12","obj":"T13"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"text":"The reduced folate carrier (RFC-1) 80A\u003eG polymorphism and maternal risk of having a child with Down syndrome: a meta-analysis.\nA common polymorphism (c.80A\u003eG) in the gene coding for the reduced folate carrier (SLC19A1, commonly known as RFC-1) has been associated with maternal risk of the birth of a child with Down Syndrome (DS), but results are controversial. We searched major online databases to identify available case-control studies, and performed a meta-analysis to summarize the data concerning this association. Nine independent case-control studies were identified for a total of 930 DS mothers (MDS) and 1240 control mothers. Odds ratios (OR) and 95% confidence intervals (CI) were calculated using both fixed and random effects models. An increase in the risk of having a birth with DS was observed for carriers of the homozygous GG genotype (OR 1.27, 95% CI 1.04-1.57; p = 0.02, fixed effects model), even after removal from the meta-analysis of published data with deviations from Hardy-Weinberg equilibrium (HWE) in controls (OR 1.26, 95% CI 1.02-1.55; p = 0.03, fixed effects model). Moreover, the pooled OR under the fixed effects model showed an increase in the maternal risk for the G allele (OR 1.14, 95% CI 1.01-1.30; p = 0.03). Present results suggest that the maternal RFC-1 80A\u003eG polymorphism might be associated with an increased risk of having a birth with DS, particularly among carriers of the GG genotype."}

{"project":"Allie","denotations":[{"id":"SS1_23857226_1_0","span":{"begin":312,"end":325},"obj":"expanded"},{"id":"SS2_23857226_1_0","span":{"begin":327,"end":329},"obj":"abbr"},{"id":"SS1_23857226_4_0","span":{"begin":639,"end":650},"obj":"expanded"},{"id":"SS2_23857226_4_0","span":{"begin":652,"end":654},"obj":"abbr"},{"id":"SS1_23857226_4_1","span":{"begin":664,"end":684},"obj":"expanded"},{"id":"SS2_23857226_4_1","span":{"begin":686,"end":688},"obj":"abbr"},{"id":"SS1_23857226_5_0","span":{"begin":997,"end":1023},"obj":"expanded"},{"id":"SS2_23857226_5_0","span":{"begin":1025,"end":1028},"obj":"abbr"}],"relations":[{"id":"AE1_23857226_1_0","pred":"abbreviatedTo","subj":"SS1_23857226_1_0","obj":"SS2_23857226_1_0"},{"id":"AE1_23857226_4_0","pred":"abbreviatedTo","subj":"SS1_23857226_4_0","obj":"SS2_23857226_4_0"},{"id":"AE1_23857226_4_1","pred":"abbreviatedTo","subj":"SS1_23857226_4_1","obj":"SS2_23857226_4_1"},{"id":"AE1_23857226_5_0","pred":"abbreviatedTo","subj":"SS1_23857226_5_0","obj":"SS2_23857226_5_0"}],"text":"The reduced folate carrier (RFC-1) 80A\u003eG polymorphism and maternal risk of having a child with Down syndrome: a meta-analysis.\nA common polymorphism (c.80A\u003eG) in the gene coding for the reduced folate carrier (SLC19A1, commonly known as RFC-1) has been associated with maternal risk of the birth of a child with Down Syndrome (DS), but results are controversial. We searched major online databases to identify available case-control studies, and performed a meta-analysis to summarize the data concerning this association. Nine independent case-control studies were identified for a total of 930 DS mothers (MDS) and 1240 control mothers. Odds ratios (OR) and 95% confidence intervals (CI) were calculated using both fixed and random effects models. An increase in the risk of having a birth with DS was observed for carriers of the homozygous GG genotype (OR 1.27, 95% CI 1.04-1.57; p = 0.02, fixed effects model), even after removal from the meta-analysis of published data with deviations from Hardy-Weinberg equilibrium (HWE) in controls (OR 1.26, 95% CI 1.02-1.55; p = 0.03, fixed effects model). Moreover, the pooled OR under the fixed effects model showed an increase in the maternal risk for the G allele (OR 1.14, 95% CI 1.01-1.30; p = 0.03). Present results suggest that the maternal RFC-1 80A\u003eG polymorphism might be associated with an increased risk of having a birth with DS, particularly among carriers of the GG genotype."}

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"23857226-0#28#33#gene5981","span":{"begin":28,"end":33},"obj":"gene5981"},{"id":"23857226-0#28#33#gene6573","span":{"begin":28,"end":33},"obj":"gene6573"},{"id":"23857226-0#95#108#diseaseC0013080","span":{"begin":95,"end":108},"obj":"diseaseC0013080"}],"relations":[{"id":"28#33#gene598195#108#diseaseC0013080","pred":"associated_with","subj":"23857226-0#28#33#gene5981","obj":"23857226-0#95#108#diseaseC0013080"},{"id":"28#33#gene657395#108#diseaseC0013080","pred":"associated_with","subj":"23857226-0#28#33#gene6573","obj":"23857226-0#95#108#diseaseC0013080"}],"text":"The reduced folate carrier (RFC-1) 80A\u003eG polymorphism and maternal risk of having a child with Down syndrome: a meta-analysis.\nA common polymorphism (c.80A\u003eG) in the gene coding for the reduced folate carrier (SLC19A1, commonly known as RFC-1) has been associated with maternal risk of the birth of a child with Down Syndrome (DS), but results are controversial. We searched major online databases to identify available case-control studies, and performed a meta-analysis to summarize the data concerning this association. Nine independent case-control studies were identified for a total of 930 DS mothers (MDS) and 1240 control mothers. Odds ratios (OR) and 95% confidence intervals (CI) were calculated using both fixed and random effects models. An increase in the risk of having a birth with DS was observed for carriers of the homozygous GG genotype (OR 1.27, 95% CI 1.04-1.57; p = 0.02, fixed effects model), even after removal from the meta-analysis of published data with deviations from Hardy-Weinberg equilibrium (HWE) in controls (OR 1.26, 95% CI 1.02-1.55; p = 0.03, fixed effects model). Moreover, the pooled OR under the fixed effects model showed an increase in the maternal risk for the G allele (OR 1.14, 95% CI 1.01-1.30; p = 0.03). Present results suggest that the maternal RFC-1 80A\u003eG polymorphism might be associated with an increased risk of having a birth with DS, particularly among carriers of the GG genotype."}

{"project":"DisGeNET5_variant_disease","denotations":[{"id":"23857226-0#35#40#geners1051266","span":{"begin":35,"end":40},"obj":"geners1051266"},{"id":"23857226-0#95#108#diseaseC0013080","span":{"begin":95,"end":108},"obj":"diseaseC0013080"}],"relations":[{"id":"35#40#geners105126695#108#diseaseC0013080","pred":"associated_with","subj":"23857226-0#35#40#geners1051266","obj":"23857226-0#95#108#diseaseC0013080"}],"text":"The reduced folate carrier (RFC-1) 80A\u003eG polymorphism and maternal risk of having a child with Down syndrome: a meta-analysis.\nA common polymorphism (c.80A\u003eG) in the gene coding for the reduced folate carrier (SLC19A1, commonly known as RFC-1) has been associated with maternal risk of the birth of a child with Down Syndrome (DS), but results are controversial. We searched major online databases to identify available case-control studies, and performed a meta-analysis to summarize the data concerning this association. Nine independent case-control studies were identified for a total of 930 DS mothers (MDS) and 1240 control mothers. Odds ratios (OR) and 95% confidence intervals (CI) were calculated using both fixed and random effects models. An increase in the risk of having a birth with DS was observed for carriers of the homozygous GG genotype (OR 1.27, 95% CI 1.04-1.57; p = 0.02, fixed effects model), even after removal from the meta-analysis of published data with deviations from Hardy-Weinberg equilibrium (HWE) in controls (OR 1.26, 95% CI 1.02-1.55; p = 0.03, fixed effects model). Moreover, the pooled OR under the fixed effects model showed an increase in the maternal risk for the G allele (OR 1.14, 95% CI 1.01-1.30; p = 0.03). Present results suggest that the maternal RFC-1 80A\u003eG polymorphism might be associated with an increased risk of having a birth with DS, particularly among carriers of the GG genotype."}