Have we learnt all we need to know from genetic studies - is genetics over in Alzheimer's disease?

ABSTRACT:

Background

Alzheimer's disease (AD) pathophysiology is mostly (>95%) not inherited in a Mendelian fashion. Such sporadic AD (sAD) forms do not exhibit familial aggregation and are characterized by complex genetic inheritance. Growing evidence indicates that multiple genes contribute to sAD-characteristic endophenotypes, molecular mechanisms, signaling pathways and biomarker signatures either individually or through complex gene-gene interactions, lifestyle and the environment.

Discussion

Under the hypothesis that low-prevalence variants showing moderate-to-high effect size may be associated with risk for sAD, two independent research groups have demonstrated that a rare variant (rs75932628, encoding a substitution of arginine by histidine at residue 47 (R47H), in the TREM2 g

SUBMITTER: Hampel H 

PROVIDER: S-EPMC3706946 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature