PubMed:26758262
Annnotations
DisGeNET5_variant_disease
{"project":"DisGeNET5_variant_disease","denotations":[{"id":"26758262-0#40#50#geners75932628","span":{"begin":40,"end":50},"obj":"geners75932628"},{"id":"26758262-0#73#92#diseaseC0030567","span":{"begin":73,"end":92},"obj":"diseaseC0030567"},{"id":"26758262-1#58#64#geners75932628","span":{"begin":194,"end":200},"obj":"geners75932628"},{"id":"26758262-1#44#54#geners75932628","span":{"begin":180,"end":190},"obj":"geners75932628"},{"id":"26758262-1#159#178#diseaseC0002395","span":{"begin":295,"end":314},"obj":"diseaseC0002395"},{"id":"26758262-1#209#232#diseaseC0236642","span":{"begin":345,"end":368},"obj":"diseaseC0236642"},{"id":"26758262-1#209#232#diseaseC0338451","span":{"begin":345,"end":368},"obj":"diseaseC0338451"},{"id":"26758262-1#159#178#diseaseC0002395","span":{"begin":295,"end":314},"obj":"diseaseC0002395"},{"id":"26758262-1#209#232#diseaseC0236642","span":{"begin":345,"end":368},"obj":"diseaseC0236642"},{"id":"26758262-1#209#232#diseaseC0338451","span":{"begin":345,"end":368},"obj":"diseaseC0338451"}],"relations":[{"id":"40#50#geners7593262873#92#diseaseC0030567","pred":"associated_with","subj":"26758262-0#40#50#geners75932628","obj":"26758262-0#73#92#diseaseC0030567"},{"id":"58#64#geners75932628159#178#diseaseC0002395","pred":"associated_with","subj":"26758262-1#58#64#geners75932628","obj":"26758262-1#159#178#diseaseC0002395"},{"id":"58#64#geners75932628209#232#diseaseC0236642","pred":"associated_with","subj":"26758262-1#58#64#geners75932628","obj":"26758262-1#209#232#diseaseC0236642"},{"id":"58#64#geners75932628209#232#diseaseC0338451","pred":"associated_with","subj":"26758262-1#58#64#geners75932628","obj":"26758262-1#209#232#diseaseC0338451"},{"id":"58#64#geners75932628159#178#diseaseC0002395","pred":"associated_with","subj":"26758262-1#58#64#geners75932628","obj":"26758262-1#159#178#diseaseC0002395"},{"id":"58#64#geners75932628209#232#diseaseC0236642","pred":"associated_with","subj":"26758262-1#58#64#geners75932628","obj":"26758262-1#209#232#diseaseC0236642"},{"id":"58#64#geners75932628209#232#diseaseC0338451","pred":"associated_with","subj":"26758262-1#58#64#geners75932628","obj":"26758262-1#209#232#diseaseC0338451"},{"id":"44#54#geners75932628159#178#diseaseC0002395","pred":"associated_with","subj":"26758262-1#44#54#geners75932628","obj":"26758262-1#159#178#diseaseC0002395"},{"id":"44#54#geners75932628209#232#diseaseC0236642","pred":"associated_with","subj":"26758262-1#44#54#geners75932628","obj":"26758262-1#209#232#diseaseC0236642"},{"id":"44#54#geners75932628209#232#diseaseC0338451","pred":"associated_with","subj":"26758262-1#44#54#geners75932628","obj":"26758262-1#209#232#diseaseC0338451"},{"id":"44#54#geners75932628159#178#diseaseC0002395","pred":"associated_with","subj":"26758262-1#44#54#geners75932628","obj":"26758262-1#159#178#diseaseC0002395"},{"id":"44#54#geners75932628209#232#diseaseC0236642","pred":"associated_with","subj":"26758262-1#44#54#geners75932628","obj":"26758262-1#209#232#diseaseC0236642"},{"id":"44#54#geners75932628209#232#diseaseC0338451","pred":"associated_with","subj":"26758262-1#44#54#geners75932628","obj":"26758262-1#209#232#diseaseC0338451"}],"text":"Association study of TREM2 polymorphism rs75932628 with leucoaraiosis or Parkinson's disease in the Han Chinese population.\nOBJECTIVES: The previously reported functional mutation rs75932628-T (p.R47H) in the triggering receptor expressed on myeloid cells 2 (TREM2) is a genetic risk factor for Alzheimer's disease, Parkinson's disease (PD) and frontotemporal dementia, in European populations. This study aims to assess the genetic association of the variant rs75932628-T with PD and leucoaraiosis (LA) in a Han Chinese population.\nSETTING: This population-based study was conducted in China by Xiamen University and its affiliated hospital.\nPARTICIPANTS: 308 patients with LA, 342 patients with PD and 198 healthy blood donors were recruited from the First Affiliated Hospital of Xiamen University.\nOUTCOME MEASURES: Genotyping was performed by molecular beacon real-time PCR and Sanger sequencing.\nRESULTS: None of our participants carried the rs75932628-T mutation.\nCONCLUSIONS: Our results corroborate and extend previous findings, concluding that the variant rs75932628-T (p.R47H) in TREM2 is not a risk factor for LA or PD in the Han Chinese population."}
DisGeNET5_gene_disease
{"project":"DisGeNET5_gene_disease","denotations":[{"id":"26758262-0#21#26#gene54209","span":{"begin":21,"end":26},"obj":"gene54209"},{"id":"26758262-0#73#92#diseaseC0030567","span":{"begin":73,"end":92},"obj":"diseaseC0030567"},{"id":"26758262-1#123#128#gene54209","span":{"begin":259,"end":264},"obj":"gene54209"},{"id":"26758262-1#73#121#gene54209","span":{"begin":209,"end":257},"obj":"gene54209"},{"id":"26758262-1#123#128#gene54209","span":{"begin":259,"end":264},"obj":"gene54209"},{"id":"26758262-1#209#232#diseaseC0236642","span":{"begin":345,"end":368},"obj":"diseaseC0236642"},{"id":"26758262-1#209#232#diseaseC0338451","span":{"begin":345,"end":368},"obj":"diseaseC0338451"},{"id":"26758262-1#159#178#diseaseC0002395","span":{"begin":295,"end":314},"obj":"diseaseC0002395"}],"relations":[{"id":"21#26#gene5420973#92#diseaseC0030567","pred":"associated_with","subj":"26758262-0#21#26#gene54209","obj":"26758262-0#73#92#diseaseC0030567"},{"id":"123#128#gene54209209#232#diseaseC0236642","pred":"associated_with","subj":"26758262-1#123#128#gene54209","obj":"26758262-1#209#232#diseaseC0236642"},{"id":"123#128#gene54209209#232#diseaseC0338451","pred":"associated_with","subj":"26758262-1#123#128#gene54209","obj":"26758262-1#209#232#diseaseC0338451"},{"id":"123#128#gene54209159#178#diseaseC0002395","pred":"associated_with","subj":"26758262-1#123#128#gene54209","obj":"26758262-1#159#178#diseaseC0002395"},{"id":"73#121#gene54209209#232#diseaseC0236642","pred":"associated_with","subj":"26758262-1#73#121#gene54209","obj":"26758262-1#209#232#diseaseC0236642"},{"id":"73#121#gene54209209#232#diseaseC0338451","pred":"associated_with","subj":"26758262-1#73#121#gene54209","obj":"26758262-1#209#232#diseaseC0338451"},{"id":"73#121#gene54209159#178#diseaseC0002395","pred":"associated_with","subj":"26758262-1#73#121#gene54209","obj":"26758262-1#159#178#diseaseC0002395"},{"id":"123#128#gene54209209#232#diseaseC0236642","pred":"associated_with","subj":"26758262-1#123#128#gene54209","obj":"26758262-1#209#232#diseaseC0236642"},{"id":"123#128#gene54209209#232#diseaseC0338451","pred":"associated_with","subj":"26758262-1#123#128#gene54209","obj":"26758262-1#209#232#diseaseC0338451"},{"id":"123#128#gene54209159#178#diseaseC0002395","pred":"associated_with","subj":"26758262-1#123#128#gene54209","obj":"26758262-1#159#178#diseaseC0002395"}],"text":"Association study of TREM2 polymorphism rs75932628 with leucoaraiosis or Parkinson's disease in the Han Chinese population.\nOBJECTIVES: The previously reported functional mutation rs75932628-T (p.R47H) in the triggering receptor expressed on myeloid cells 2 (TREM2) is a genetic risk factor for Alzheimer's disease, Parkinson's disease (PD) and frontotemporal dementia, in European populations. This study aims to assess the genetic association of the variant rs75932628-T with PD and leucoaraiosis (LA) in a Han Chinese population.\nSETTING: This population-based study was conducted in China by Xiamen University and its affiliated hospital.\nPARTICIPANTS: 308 patients with LA, 342 patients with PD and 198 healthy blood donors were recruited from the First Affiliated Hospital of Xiamen University.\nOUTCOME MEASURES: Genotyping was performed by molecular beacon real-time PCR and Sanger sequencing.\nRESULTS: None of our participants carried the rs75932628-T mutation.\nCONCLUSIONS: Our results corroborate and extend previous findings, concluding that the variant rs75932628-T (p.R47H) in TREM2 is not a risk factor for LA or PD in the Han Chinese population."}