0000000001169697
AUTHOR
J Cooper
Long-range DNA looping and gene expression analyses identify DEXI as an autoimmune disease candidate gene
The chromosome 16p13 region has been associated with several autoimmune diseases, including type 1 diabetes (T1D) and multiple sclerosis (MS). CLEC16A has been reported as the most likely candidate gene in the region, since it contains the most disease-associated single-nucleotide polymorphisms (SNPs), as well as an imunoreceptor tyrosine-based activation motif. However, here we report that intron 19 of CLEC16A, containing the most autoimmune disease-associated SNPs, appears to behave as a regulatory sequence, affecting the expression of a neighbouring gene, DEXI. The CLEC16A alleles that are protective from T1D and MS are associated with increased expression of DEXI, and no other genes in …
Large-scale gene-centric analysis identifies novel variants for coronary artery disease.
Coronary artery disease (CAD) has a significant genetic contribution that is incompletely characterized. To complement genome-wide association (GWA) studies, we conducted a large and systematic candidate gene study of CAD susceptibility, including analysis of many uncommon and functional variants. We examined 49,094 genetic variants in ∼2,100 genes of cardiovascular relevance, using a customised gene array in 15,596 CAD cases and 34,992 controls (11,202 cases and 30,733 controls of European descent; 4,394 cases and 4,259 controls of South Asian origin). We attempted to replicate putative novel associations in an additional 17,121 CAD cases and 40,473 controls. Potential mechanisms through w…
Analysis of body composition and blood parameters on 20 subjects after 6 months of training with SuperJump
The “Jill Cooper’s aerobic accellerator system” uses high quality rebound, modified to increase the acceleration, create a more accommodating work surface, greater stability and cushioning to protect joints. Thanks to the three forces of acceleration, deceleration, and the force of gravity, for each jump, the one-way valves of the lymphatic pathways open and close pushing the lymph towards the next “closed”. This action allows the lymphatic system to make a full turn faster than usual. We investigate the effects of 6 months of training on 20 subjects (age: 37 ± 19; weight: 74 ± 19 Kg; height:164,5 ± 13,5 cm; BMI: 28,13 ± 6,876 Kg/m2; % body fat: 26 ± 14,7 Kg). Antropometric parameters were …