Modifier Genes to Protect From Alzheimer’s Disease, Serious Infection in Cystic Fibrosis: Topol on Genomics.
Dr. Topol talked about APP gene and its preservative effect on cognitive function, increase longevity, and protect against Alzheimer disease. You can find the full article here: http://www.nature.com/nature/journal/vaop/ncurrent/full/nature11283.html?WT.ec_id=NATURE-20120712
The bad news is this APP-A673T variant only exists in 0.5% of the studied Scandinavian population.
To download UCSC RefSeq Gene info with HUGO gene name, start and stop codon or transcription start-end site, locate the refflat.txt.gz file on the annotation database
– Hg18: http://hgdownload.cse.ucsc.edu/goldenPath/hg18/database/refFlat.txt.gz
– Hg19: http://hgdownload.cse.ucsc.edu/goldenPath/hg19/database/refFlat.txt.gz
The reFlat.txt.gz contains the following columns as described in the reFlat.sql file
– 1) Hugo gene name
– 2) chromosome
– 3) strand (+/-)
– 4) Transcription start position
– 5) Transcription end position
– 6) Coding region start
– 7) Coding region end
– 8) Number of exons
– 9) Exon start positions
– 10) Exon end positions
These info should come in handy when you have to map the location of genetic marker to genes. I post the script I wrote to do this mapping latter if there is anyone interested.