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Publication : SUCLG2 identified as both a determinator of CSF Aβ1-42 levels and an attenuator of cognitive decline in Alzheimer's disease.

First Author  Ramirez A Year  2014
Journal  Hum Mol Genet Volume  23
Issue  24 Pages  6644-58
PubMed ID  25027320 Mgi Jnum  J:216197
Mgi Id  MGI:5607853 Doi  10.1093/hmg/ddu372
Citation  Ramirez A, et al. (2014) SUCLG2 identified as both a determinator of CSF Abeta1-42 levels and an attenuator of cognitive decline in Alzheimer's disease. Hum Mol Genet 23(24):6644-58
abstractText  Cerebrospinal fluid amyloid-beta 1-42 (Abeta1-42) and phosphorylated Tau at position 181 (pTau181) are biomarkers of Alzheimer's disease (AD). We performed an analysis and meta-analysis of genome-wide association study data on Abeta1-42 and pTau181 in AD dementia patients followed by independent replication. An association was found between Abeta1-42 level and a single-nucleotide polymorphism in SUCLG2 (rs62256378) (P = 2.5x10(-12)). An interaction between APOE genotype and rs62256378 was detected (P = 9.5 x 10(-5)), with the strongest effect being observed in APOE-epsilon4 noncarriers. Clinically, rs62256378 was associated with rate of cognitive decline in AD dementia patients (P = 3.1 x 10(-3)). Functional microglia experiments showed that SUCLG2 was involved in clearance of Abeta1-42.
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