Our understanding of the genetics of Alzheimer’s disease (AD) has progressed considerably in the last few years, thanks to the contribution of genome-wide association studies (GWAS). We now have ten common variants that associate with risk with the promise of more to come. Other than APOE4 each has a small risk, but collectively their contribution adds to our genetic understanding and makes an impact on possible novel mechanisms of disease. Advances in technology, particularly next generation sequencing approaches, are also starting to explain the genetic architecture of the disease at an increasingly fine level. Once we have a complete understanding of AD risk factors, diagnostic testing becomes a reality. Whilst currently there is little to offer such individuals, their identification could well be worthwhile as they are the patients most likely to benefit from early intervention with emerging therapies.
Next Generation Sequencing Rare Variant Next Generation Sequencing Approach Genetic Understanding Index SNPs
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