PubMed:20197700 JSON TXT

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DisGeNET

PubmedHPO

{"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":166,"end":174},"obj":"HP_0000726"},{"id":"T2","span":{"begin":389,"end":406},"obj":"HP_0002511"}],"text":"Common variant in GRN is a genetic risk factor for hippocampal sclerosis in the elderly.\nBACKGROUND: Hippocampal sclerosis (HpScl) is common in elderly subjects with dementia, either alone or accompanied by other pathologic processes. It is also found in \u003e70% of frontotemporal lobar degeneration with TDP-43 immunoreactive inclusions (FTLD-TDP). TDP-43 inclusions are detected in \u003e20% of Alzheimer disease (AD) and \u003e70% of HpScl cases. The most common cause of FTLD-TDP is mutation in the progranulin gene (GRN). Recently, a common genetic variant in the 3' untranslated region (3'UTR) of GRN (rs5848; c.*78C\u003eT) located in a microRNA binding site regulated progranulin expression, and the T-allele was increased in FTLD-TDP compared to controls.\nOBJECTIVE: The goal of this study was to determine if the 3'UTR variant in GRN was associated with TDP-43 immunoreactivity in AD with and without HpScl.\nMETHODS: 644 cases of pathologically confirmed AD, including 57 with HpScl, were screened for TDP-43 immunoreactivity and were genotyped at the GRN 3'UTR single-nucleotide polymorphism rs5848 using previously published methods.\nRESULTS: There was a trend (p = 0.06) for TDP-43 immunoreactivity, but a very significant (p = 0.005) association of HpScl with the variant, with 72% of AD with HpScl carrying a T-allele, compared to 51% of AD without HpScl carrying a T-allele.\nCONCLUSION: The results suggest that a genetic variant in GRN leading to decreased levels of progranulin may be a risk factor for HpScl in AD, while its role in TDP-43 immunoreactivity in AD remains less certain."}

Allie

{"project":"Allie","denotations":[{"id":"SS1_20197700_2_0","span":{"begin":101,"end":122},"obj":"expanded"},{"id":"SS2_20197700_2_0","span":{"begin":124,"end":129},"obj":"abbr"},{"id":"SS1_20197700_3_0","span":{"begin":263,"end":334},"obj":"expanded"},{"id":"SS2_20197700_3_0","span":{"begin":336,"end":344},"obj":"abbr"},{"id":"SS1_20197700_4_0","span":{"begin":389,"end":406},"obj":"expanded"},{"id":"SS2_20197700_4_0","span":{"begin":408,"end":410},"obj":"abbr"},{"id":"SS1_20197700_6_0","span":{"begin":556,"end":578},"obj":"expanded"},{"id":"SS2_20197700_6_0","span":{"begin":580,"end":585},"obj":"abbr"}],"relations":[{"id":"AE1_20197700_2_0","pred":"abbreviatedTo","subj":"SS1_20197700_2_0","obj":"SS2_20197700_2_0"},{"id":"AE1_20197700_3_0","pred":"abbreviatedTo","subj":"SS1_20197700_3_0","obj":"SS2_20197700_3_0"},{"id":"AE1_20197700_4_0","pred":"abbreviatedTo","subj":"SS1_20197700_4_0","obj":"SS2_20197700_4_0"},{"id":"AE1_20197700_6_0","pred":"abbreviatedTo","subj":"SS1_20197700_6_0","obj":"SS2_20197700_6_0"}],"text":"Common variant in GRN is a genetic risk factor for hippocampal sclerosis in the elderly.\nBACKGROUND: Hippocampal sclerosis (HpScl) is common in elderly subjects with dementia, either alone or accompanied by other pathologic processes. It is also found in \u003e70% of frontotemporal lobar degeneration with TDP-43 immunoreactive inclusions (FTLD-TDP). TDP-43 inclusions are detected in \u003e20% of Alzheimer disease (AD) and \u003e70% of HpScl cases. The most common cause of FTLD-TDP is mutation in the progranulin gene (GRN). Recently, a common genetic variant in the 3' untranslated region (3'UTR) of GRN (rs5848; c.*78C\u003eT) located in a microRNA binding site regulated progranulin expression, and the T-allele was increased in FTLD-TDP compared to controls.\nOBJECTIVE: The goal of this study was to determine if the 3'UTR variant in GRN was associated with TDP-43 immunoreactivity in AD with and without HpScl.\nMETHODS: 644 cases of pathologically confirmed AD, including 57 with HpScl, were screened for TDP-43 immunoreactivity and were genotyped at the GRN 3'UTR single-nucleotide polymorphism rs5848 using previously published methods.\nRESULTS: There was a trend (p = 0.06) for TDP-43 immunoreactivity, but a very significant (p = 0.005) association of HpScl with the variant, with 72% of AD with HpScl carrying a T-allele, compared to 51% of AD without HpScl carrying a T-allele.\nCONCLUSION: The results suggest that a genetic variant in GRN leading to decreased levels of progranulin may be a risk factor for HpScl in AD, while its role in TDP-43 immunoreactivity in AD remains less certain."}

DisGeNET5_variant_disease

{"project":"DisGeNET5_variant_disease","denotations":[{"id":"20197700-7#176#182#geners5848","span":{"begin":1085,"end":1091},"obj":"geners5848"},{"id":"20197700-7#60#65#diseaseC1504404","span":{"begin":969,"end":974},"obj":"diseaseC1504404"}],"relations":[{"id":"176#182#geners584860#65#diseaseC1504404","pred":"associated_with","subj":"20197700-7#176#182#geners5848","obj":"20197700-7#60#65#diseaseC1504404"}],"text":"Common variant in GRN is a genetic risk factor for hippocampal sclerosis in the elderly.\nBACKGROUND: Hippocampal sclerosis (HpScl) is common in elderly subjects with dementia, either alone or accompanied by other pathologic processes. It is also found in \u003e70% of frontotemporal lobar degeneration with TDP-43 immunoreactive inclusions (FTLD-TDP). TDP-43 inclusions are detected in \u003e20% of Alzheimer disease (AD) and \u003e70% of HpScl cases. The most common cause of FTLD-TDP is mutation in the progranulin gene (GRN). Recently, a common genetic variant in the 3' untranslated region (3'UTR) of GRN (rs5848; c.*78C\u003eT) located in a microRNA binding site regulated progranulin expression, and the T-allele was increased in FTLD-TDP compared to controls.\nOBJECTIVE: The goal of this study was to determine if the 3'UTR variant in GRN was associated with TDP-43 immunoreactivity in AD with and without HpScl.\nMETHODS: 644 cases of pathologically confirmed AD, including 57 with HpScl, were screened for TDP-43 immunoreactivity and were genotyped at the GRN 3'UTR single-nucleotide polymorphism rs5848 using previously published methods.\nRESULTS: There was a trend (p = 0.06) for TDP-43 immunoreactivity, but a very significant (p = 0.005) association of HpScl with the variant, with 72% of AD with HpScl carrying a T-allele, compared to 51% of AD without HpScl carrying a T-allele.\nCONCLUSION: The results suggest that a genetic variant in GRN leading to decreased levels of progranulin may be a risk factor for HpScl in AD, while its role in TDP-43 immunoreactivity in AD remains less certain."}

DisGeNET5_gene_disease