Cutting cardiovascular risk in barbershops

http://dx.doi.org/10.1016/j.jomh.2009.07.00

A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

Breast cancer (BC) risk for BRCA1 and BRCA2 mutation carriers varies by genetic and familial factors. About 50 common variants have been shown to modify BC risk for mutation carriers. All but three, were identified in general population studies. Other mutation carrier-specific susceptibility variants may exist but studies of mutation carriers have so far been underpowered. We conduct a novel case-only genome-wide association study comparing genotype frequencies between 60,212 general population BC cases and 13,007 cases with BRCA1 or BRCA2 mutations. We identify robust novel associations for 2 variants with BC for BRCA1 and 3 for BRCA2 mutation carriers, P < 10−8, at 5 loci, which are not associated with risk in the general population. They include rs60882887 at 11p11.2 where MADD, SP11 and EIF1, genes previously implicated in BC biology, are predicted as potential targets. These findings will contribute towards customising BC polygenic risk scores for BRCA1 and BRCA2 mutation carriers

Axial length and cone density as assessed with adaptive optics in myopia

AIM: To assess the variations in cone mosaic in myopia and its correlation with axial length (AL). SUBJECTS AND METHODS: Twenty-five healthy myopic volunteers underwent assessment of photoreceptors using adaptive optics retinal camera at 2 degrees and 3 degrees from the foveal center in four quadrants superior, inferior, temporal and nasal. Data was analyzed using SPSS version 17 (IBM). Multivariable regression analysis was conducted to study the relation between cone density and AL, quadrant around the fovea and eccentricity from the fovea. RESULTS: The mean cone density was significantly lower as the eccentricity increased from 2 degrees from the fovea to 3 degrees (18,560 +/- 5455-16,404 +/- 4494/mm 2 respectively). There was also a statistically significant difference between four quadrants around the fovea. The correlation of cone density and spacing with AL showed that there was a significant inverse relation of AL with the cone density. CONCLUSION: In myopic patients with good visual acuity cone density around the fovea depends on the quadrant, distance from the fovea as well as the AL. The strength of the relation of AL with cone density depends on the quadrant and distance