Publication Date:
2014-11-21
Description:
Cerebrospinal fluid amyloid-beta 1–42 (Aβ 1–42 ) and phosphorylated Tau at position 181 (pTau 181 ) are biomarkers of Alzheimer's disease (AD). We performed an analysis and meta-analysis of genome-wide association study data on Aβ 1–42 and pTau 181 in AD dementia patients followed by independent replication. An association was found between Aβ 1–42 level and a single-nucleotide polymorphism in SUCLG2 (rs62256378) ( P = 2.5 x 10 –12 ). An interaction between APOE genotype and rs62256378 was detected ( P = 9.5 x 10 –5 ), with the strongest effect being observed in APOE-4 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 Aβ 1–42 .
Print ISSN:
0964-6906
Electronic ISSN:
1460-2083
Topics:
Biology
,
Medicine
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