PubMed:17166870 JSONTXT

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{"target":"https://pubannotation.org/docs/sourcedb/PubMed/sourceid/17166870","sourcedb":"PubMed","sourceid":"17166870","source_url":"http://www.ncbi.nlm.nih.gov/pubmed/17166870","text":"Association between an endoglin gene polymorphism and systemic sclerosis-related pulmonary arterial hypertension.\nUNLABELLED: Systemic sclerosis (SSc) is a connective tissue disorder characterized by early generalized microangiopathy with disturbed angiogenesis. Endoglin gene (ENG) encodes a transmembrane glycoprotein which acts as an accessory receptor for the transforming growth factor-beta (TGF-beta) superfamily, and is crucial for maintaining vascular integrity. A 6-base insertion in intron 7 (6bINS) of ENG has been reported to be associated with microvascular disturbance.\nOBJECTIVES: Our objective was to investigate the relationship between 6bINS and the vascular complication pulmonary arterial hypertension (PAH) in SSc in a French Caucasian population.\nMETHODS: Two hundred eighty SSc cases containing 29/280 having PAH diagnosed by catheterism were compared with 140 patients with osteoarthritis. Genotyping was performed by polymerase-chain-reaction-based fluorescence and direct sequencing of genomic DNA.\nRESULTS: The polymorphism was in Hardy-Weinberg equilibrium. We observed a significant lower frequency of 6bINS allele in SSc patients with associated PAH compared with controls [10.3 vs 23.9%, P = 0.01; odds ratio (OR) 0.37, 95% confidence interval (CI) 0.15-0.89], and a trend in comparison with SSc patients without PAH (10.3 vs 20.3%, P = 0.05; OR: 0.45, 95% CI: 0.19-1.08). Genotypes carrying allele 6bINS were also less frequent in SSc patients with PAH than in controls (20.7 vs 42.9%, P = 0.02).\nCONCLUSIONS: Thus the frequency of 6bINS differs between SSc patients with or without PAH, suggesting the implication of ENG in this devastating vascular complication of SSc.","tracks":[{"project":"LitCoin-sentences","denotations":[{"id":"T1","span":{"begin":0,"end":113},"obj":"Sentence"},{"id":"T2","span":{"begin":114,"end":125},"obj":"Sentence"},{"id":"T3","span":{"begin":126,"end":262},"obj":"Sentence"},{"id":"T4","span":{"begin":263,"end":470},"obj":"Sentence"},{"id":"T5","span":{"begin":471,"end":583},"obj":"Sentence"},{"id":"T6","span":{"begin":584,"end":595},"obj":"Sentence"},{"id":"T7","span":{"begin":596,"end":768},"obj":"Sentence"},{"id":"T8","span":{"begin":769,"end":777},"obj":"Sentence"},{"id":"T9","span":{"begin":778,"end":913},"obj":"Sentence"},{"id":"T10","span":{"begin":914,"end":1024},"obj":"Sentence"},{"id":"T11","span":{"begin":1025,"end":1033},"obj":"Sentence"},{"id":"T12","span":{"begin":1034,"end":1085},"obj":"Sentence"},{"id":"T13","span":{"begin":1086,"end":1377},"obj":"Sentence"},{"id":"T14","span":{"begin":1378,"end":1391},"obj":"Sentence"},{"id":"T15","span":{"begin":1392,"end":1403},"obj":"Sentence"},{"id":"T16","span":{"begin":1404,"end":1528},"obj":"Sentence"},{"id":"T17","span":{"begin":1529,"end":1541},"obj":"Sentence"},{"id":"T18","span":{"begin":1542,"end":1703},"obj":"Sentence"}],"attributes":[{"subj":"T1","pred":"source","obj":"LitCoin-sentences"},{"subj":"T2","pred":"source","obj":"LitCoin-sentences"},{"subj":"T3","pred":"source","obj":"LitCoin-sentences"},{"subj":"T4","pred":"source","obj":"LitCoin-sentences"},{"subj":"T5","pred":"source","obj":"LitCoin-sentences"},{"subj":"T6","pred":"source","obj":"LitCoin-sentences"},{"subj":"T7","pred":"source","obj":"LitCoin-sentences"},{"subj":"T8","pred":"source","obj":"LitCoin-sentences"},{"subj":"T9","pred":"source","obj":"LitCoin-sentences"},{"subj":"T10","pred":"source","obj":"LitCoin-sentences"},{"subj":"T11","pred":"source","obj":"LitCoin-sentences"},{"subj":"T12","pred":"source","obj":"LitCoin-sentences"},{"subj":"T13","pred":"source","obj":"LitCoin-sentences"},{"subj":"T14","pred":"source","obj":"LitCoin-sentences"},{"subj":"T15","pred":"source","obj":"LitCoin-sentences"},{"subj":"T16","pred":"source","obj":"LitCoin-sentences"},{"subj":"T17","pred":"source","obj":"LitCoin-sentences"},{"subj":"T18","pred":"source","obj":"LitCoin-sentences"}]},{"project":"LitCoin-entities","denotations":[{"id":"3693","span":{"begin":23,"end":31},"obj":"GeneOrGeneProduct"},{"id":"3694","span":{"begin":54,"end":72},"obj":"DiseaseOrPhenotypicFeature"},{"id":"3695","span":{"begin":81,"end":112},"obj":"DiseaseOrPhenotypicFeature"},{"id":"3696","span":{"begin":126,"end":144},"obj":"DiseaseOrPhenotypicFeature"},{"id":"3697","span":{"begin":146,"end":149},"obj":"DiseaseOrPhenotypicFeature"},{"id":"3698","span":{"begin":218,"end":233},"obj":"DiseaseOrPhenotypicFeature"},{"id":"3699","span":{"begin":263,"end":271},"obj":"GeneOrGeneProduct"},{"id":"3700","span":{"begin":278,"end":281},"obj":"GeneOrGeneProduct"},{"id":"3701","span":{"begin":307,"end":319},"obj":"GeneOrGeneProduct"},{"id":"3702","span":{"begin":364,"end":395},"obj":"GeneOrGeneProduct"},{"id":"3703","span":{"begin":397,"end":405},"obj":"GeneOrGeneProduct"},{"id":"3704","span":{"begin":473,"end":489},"obj":"SequenceVariant"},{"id":"3705","span":{"begin":503,"end":508},"obj":"SequenceVariant"},{"id":"3706","span":{"begin":513,"end":516},"obj":"GeneOrGeneProduct"},{"id":"3707","span":{"begin":654,"end":659},"obj":"SequenceVariant"},{"id":"3708","span":{"begin":668,"end":689},"obj":"DiseaseOrPhenotypicFeature"},{"id":"3709","span":{"begin":690,"end":721},"obj":"DiseaseOrPhenotypicFeature"},{"id":"3710","span":{"begin":723,"end":726},"obj":"DiseaseOrPhenotypicFeature"},{"id":"3711","span":{"begin":731,"end":734},"obj":"DiseaseOrPhenotypicFeature"},{"id":"3712","span":{"begin":797,"end":800},"obj":"DiseaseOrPhenotypicFeature"},{"id":"3713","span":{"begin":832,"end":835},"obj":"DiseaseOrPhenotypicFeature"},{"id":"3714","span":{"begin":884,"end":892},"obj":"OrganismTaxon"},{"id":"3715","span":{"begin":898,"end":912},"obj":"DiseaseOrPhenotypicFeature"},{"id":"3716","span":{"begin":1131,"end":1136},"obj":"SequenceVariant"},{"id":"3717","span":{"begin":1147,"end":1150},"obj":"DiseaseOrPhenotypicFeature"},{"id":"3718","span":{"begin":1151,"end":1159},"obj":"OrganismTaxon"},{"id":"3719","span":{"begin":1176,"end":1179},"obj":"DiseaseOrPhenotypicFeature"},{"id":"3720","span":{"begin":1323,"end":1326},"obj":"DiseaseOrPhenotypicFeature"},{"id":"3721","span":{"begin":1327,"end":1335},"obj":"OrganismTaxon"},{"id":"3722","span":{"begin":1344,"end":1347},"obj":"DiseaseOrPhenotypicFeature"},{"id":"3723","span":{"begin":1430,"end":1435},"obj":"SequenceVariant"},{"id":"3724","span":{"begin":1463,"end":1466},"obj":"DiseaseOrPhenotypicFeature"},{"id":"3725","span":{"begin":1467,"end":1475},"obj":"OrganismTaxon"},{"id":"3726","span":{"begin":1481,"end":1484},"obj":"DiseaseOrPhenotypicFeature"},{"id":"3727","span":{"begin":1564,"end":1569},"obj":"SequenceVariant"},{"id":"3728","span":{"begin":1586,"end":1589},"obj":"DiseaseOrPhenotypicFeature"},{"id":"3729","span":{"begin":1590,"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