Identification of candidate protective variants for common diseases and evaluation of their protective potential.
Joe M ButlerNeil HallNiro NarendranYit C YangLuminita ParaoanPublished in: BMC genomics (2017)
We identify 34 CPVs from the human genome. Diseases they confer protection against include, but are not limited to, type 2 diabetes, inflammatory bowel disease, age-related macular degeneration, multiple sclerosis and rheumatoid arthritis. We propose that those 30 CPVs with evidence of stronger positive selection than the LPL protective variant, may be considered as priority candidates for therapeutic approaches. The next step towards translation will require testing the hypotheses generated by our analyses, specifically whether the CPV arose from a gain-of-function or a loss-of-function mutation.
Keyphrases
- age related macular degeneration
- multiple sclerosis
- type diabetes
- rheumatoid arthritis
- endothelial cells
- cardiovascular disease
- disease activity
- copy number
- glycemic control
- genome wide
- insulin resistance
- ankylosing spondylitis
- gene expression
- risk assessment
- dna methylation
- metabolic syndrome
- systemic lupus erythematosus
- white matter
- interstitial lung disease
- weight loss