Large online repositories of clinically relevant data are an exciting development in data access and sharing that could significantly accelerate research and development of therapies for a number of diseases.

The Alzheimer’s Disease Neuroimaging Initiative (ADNI) data repository continues to accumulate data (818 participants as of the current report) and the number of papers based on those data continues to grow (see “Other related blog posts” below).

The new paper “Whole genome association study of brain-wide imaging phenotypes for identifying quantitative trait loci in MCI and AD: A study of the ADNI cohort” published November 15, 2010 in NeuroImage is primarily a techniques paper focused on how to carry out whole gene and whole brain searches for single nucleotide polymorphisms (SNPs) associated with alterations in brain anatomy due to Alzheimer’s disease.

The primary focus of this paper was to:

• compare 142 different predefined anatomical variables of brain scans of normal patients with those diagnosed with Alzheimer’s disease
• evaluate each of 530,992 SNPs relationships with observed disease associated deviation in brain anatomy.

They identified 22 strong SNP and Alzheimer’s disease associated deviations in brain anatomy. Five SNPs were involved in the associations. The well-established Alzheimer’s disease risk factor APOE SNP rs429358 was one of the five SNPs and helped to confirm the validity of their methods.

The presented framework provides a way to systematically search whole genomes and whole brains to evaluate genetic effects on brain anatomy as revealed through brain imaging. Ultimately their techniques should prove useful for identifying genetic markers that correlate with disease related changes in brain structure and function that may lead to better diagnostic tools and help in developing and testing therapies.


Other related blog posts:

Brain Research Using Online Data Repositories: Predicting Alzheimer’s Disease

Brain Research Using Online Data Repositories: Predicting Alzheimer’s Disease II

Brain Research Using Online Data Repositories: Predicting Alzheimer’s Disease III

Brain Research Using Online Data Repositories: Predicting Alzheimer’s Disease IV