Alessandro Sassu

TL;DR: The results suggest that targeted re-sequencing efforts paired with large-scale genotyping will increase estimates of complex trait heritability explained by known loci, and that focusing on variants accessible via GWAS can lead to clear underestimates of the trait heritable explained by a set of loci.

TL;DR: An epidemiological survey for AGA and case-control association analysis on the X chromosome identified Xq11-q12 as strongly associated with AGA, and statistical analysis carried out by conditioning each gene to the presence of the other showed that the association with EDA2R is independent while the associationWith AR seems to be the result of linkage disequilibrium.

TL;DR: The present study suggests that the disappearance of parasitic diseases and the improved environmental conditions may have ensued the occurrence of a high percentage of 24-bp mutation in Sicily, in Sardinia and in other Mediterranean countries, whereas in the sub-Saharan regions (Benin and Burkina Faso), the widespread parasitic Diseases and the poor social status have contributed to maintenance of the wild-type Chit gene.

TL;DR: This study indicates that history, geography and biodemography have influenced the genetic features of Ogliastra communities producing differences in LD and population structure and suggests that, in order to optimize the study design of complex traits, a thorough characterization of genetic features is useful to identify the presence of sub-populations and stratification within genetic isolates.

TL;DR: Evidence is observed of a possible involvement of the region encompassing the gene LRRC16A, already associated to serum uric acid levels in a large meta-analysis of 14 GWAS, suggesting that this locus might lead a pathway for uric Acid metabolism that may be involved in gout as well as in nephrolithiasis.