Human aging in the post-GWAS era: further insights reveal potential regulatory variants
Publication date
2015Keyword
Aging and longevityRegulatory variants
Epigenetics
Human genetics
genome-wide association
nf-kappa-b
Glucocorticoid-receptor
Gene-expression
Alzheimers-disease
Cell-death
In-vivo
Hepatocellular-carcinoma
Histone modifications
Therapeutic target
Peer-Reviewed
YesOpen Access status
closedAccess
Metadata
Show full item recordAbstract
Human aging involves a gradual decrease in cellular integrity that contributes to multiple complex disorders such as neurodegenerative disorders, cancer, diabetes, and cardiovascular diseases. Genome-wide association studies (GWAS) play a key role in discovering genetic variations that may contribute towards disease vulnerability. However, mostly disease-associated SNPs lie within non-coding part of the genome; majority of the variants are also present in linkage disequilibrium (LD) with the genome-wide significant SNPs (GWAS lead SNPs). Overall 600 SNPs were analyzed, out of which 291 returned RegulomeDB scores of 1-6. It was observed that just 4 out of those 291 SNPs show strong evidence of regulatory effects (RegulomeDB score < 3), while none of them includes any GWAS lead SNP. Nevertheless, this study demonstrates that by combining ENCODE project data along with GWAS reported information will provide important insights on the impact of a genetic variant-moving from GWAS towards understanding disease pathways. It is noteworthy that both genome-wide significant SNPs as well as the SNPs in LD must be considered for future studies; this may prove to be crucial in deciphering the potential regulatory elements involved in complex disorders and aging in particular.Version
No full-text in the repositoryCitation
Haider SA and Faisal M (2015) Human aging in the post-GWAS era: further insights reveal potential regulatory variants. Biogerontology. 16(4): 529-541.Link to Version of Record
https://doi.org/10.1007/s10522-015-9575-yType
Articleae974a485f413a2113503eed53cd6c53
https://doi.org/10.1007/s10522-015-9575-y