ABSTRACT
With the advent of technologies that allow simultaneous genotyping of thousands of single-nucleotide polymorphisms (SNPs) across the genome, the genetic contributions to complex diseases can be explored at an unprecedented detail. This study is among the first to apply the genome-wide association study (GWAS) approach to Alzheimer disease (AD). We present our GWAS results from the German population for genes included in the 'Top Results' list on the AlzGene database website. In addition to the apolipoprotein E locus, we identified nominally significant association signals in six of the ten genes investigated, albeit predominantly for SNPs other than those already published as being disease associated. Further, all of the four AD genes previously identified through GWAS also showed nominally significant association signals in our data. The results of our comparative study reinforce the necessity for replication and validation, not only of GWAS but also of candidate gene case-control studies, in different populations. Furthermore, cross-platform comparison of genotyping results can also identify new association signals. Finally, our data confirm that GWAS, regardless of the platform, are valuable for the identification of genetic variants associated with AD.
Subject(s)
Alzheimer Disease/genetics , Genetic Predisposition to Disease , Genome-Wide Association Study/methods , Aged , Databases, Genetic , Female , Genotype , Humans , Male , Polymorphism, Single NucleotideABSTRACT
OBJECTIVES: To identify current developments, obstacles, and opportunities for health information systems. METHODS: International reports were discussed during an IMIA HIS Working Conference with a focus on architectural design, project goals and drivers, obstacles, and opportunities. RESULTS: Technology and standards are available to build regional and national health IT networks, and successful implementations are currently being realized. There is, however, little consensus and communication concerning goals, benefits and risks of large-scale health IT initiatives. Complexity tends to be under-estimated, and the public needs to be more involved in the decision-making process. CONCLUSION: On all levels and across borders, a climate of exchange of ideas, experiences - both successes and failures-, policies, standards, systems, and information should be created.
Subject(s)
Congresses as Topic , Medical Informatics/organization & administration , Regional Health Planning , Community Participation , Computer Systems , Germany , Medical Informatics/trendsABSTRACT
OBJECTIVES: To identify current challenges and developments in health information systems. METHODS: Reports on HIS, eHealth and process support were analyzed, core problems and challenges were identified. RESULTS AND CONCLUSION: Health information systems are extending their scope towards regional networks and health IT infrastructures. Integration, interoperability and interaction design are still today's core problems. Additional problems arise through the integration of genetic information into the health care process. There are noticeable trends towards solutions for these problems.
