MYH9 is a major-effect risk gene for focal segmental glomerulosclerosis

The increased burden of chronic kidney and end-stage kidney diseases (ESKD) in populations of African ancestry has been largely unexplained. To identify genetic variants predisposing to idiopathic and HIV-1-associated focal segmental glomerulosclerosis (FSGS), we carried out an admixture-mapping linkage-disequilibrium genome scan on 190 African American individuals with FSGS and 222 controls. We identified a chromosome 22 region with a genome-wide logarithm of the odds (lod) score of 9.2 and a peak lod of 12.4 centered on MYH9, a functional candidate gene expressed in kidney podocytes. Multiple MYH9 SNPs and haplotypes were recessively associated with FSGS, most strongly a haplotype spanning exons 14 through 23 (OR = 5.0, 95% CI = 3.5-7.1; P = 4 x 10(-23), n = 852). This association extended to hypertensive ESKD (OR = 2.2, 95% CI = 1.5-3.4; n = 433), but not type 2 diabetic ESKD (n = 476). Genetic variation at the MYH9 locus substantially explains the increased burden of FSGS and hypertensive ESKD among African Americans.     

Effect of partition coefficient on microsegregation during solidification of aluminium alloys

In the modeling of microsegregation, the partition coefficient is usually calculated using data from the equilibrium phase diagrams. The aim of this study was to experimentally and theoretically analyze the partition coefficient in binary aluminum-copper alloys. The samples were analyzed by differential thermal analysis (DTA), which were melted and quenched from different temperatures during solidification. The mass fraction and composition of phases were measured by image processing and scanning electron microscopy (SEM) equipped with an energy-dispersive X-ray spectroscopy (EDS) unit. These data were used to calculate as the experimental partition coefficients with four different methods. The experimental and equilibrium partition coefficients were used to model the concentration profile in the primary phase. The modeling results show that the profiles calculated by the experimental partition coefficients are more consistent with the experimental profiles, compared to those calculated using the equilibrium partition coefficients.