T. Piskackova

TL;DR: This analysis revealed that the genetic structure of the European population correlates closely with geography, and allows the creation of a comprehensive European genetic map that will greatly facilitate inter-population genetic studies including genome wide association studies (GWAS).

TL;DR: Highly significant association was found with allele A of rs7927894 on chromosome 11q13.5, located 38 kb downstream of C11orf30, and their risk of developing atopic dermatitis is 1.47 times that of noncarriers.

TL;DR: The SPRR3 variant associated with eczema carried an extra 24-bp repeat in the central domain, which may alter the physical properties of the CE, which provides the main barrier function of stratified squamous epithelia.

TL;DR: A modifier gene study for meconium ileus (MI), an intestinal obstruction that occurs in 16–20% of CF newborns, is conducted, providing linkage and association results from large family and case–control samples and an example of how one might overcome the confounding in the context of linkage studies.

TL;DR: The findings have not only revealed a previously unknown mutational mechanism responsible for cystic fibrosis but also represent an important addition to the already diverse spectrum of known CFTR gene mutations.