Xanthinuria discovered in population screening.

Hereditary xanthinuria

Inequality in Bladder Cancer Screening Uptake: A Cross-Sectional Study in Urban Population

Background and Objective: Bladder cancer is one of the most common malignancies of the urinary system. An important source of health disparities is related to early cancer detection strategies. The aim of the present study was to determine the inequality in bladder cancer screening uptake. Materials and Methods: The current research was a cross-sectional study that was conducted among 1760 peo...

Population-wide generalizability of genome-wide discovered associations.

JNCI | Editorials 1297 Genome-wide association studies (GWAS) have started revealing hundreds of associations between genetic variants and phenotypes ( 1 , 2 ). Most associations have robust statistical support in the populations where they have been examined. However, almost all GWAS published to date were performed in populations of European ancestry, and the replication efforts in the origin...

A newly discovered founder population: the Roma/Gypsies.

The Gypsies (a misnomer, derived from an early legend about Egyptian origins) defy the conventional definition of a population: they have no nation-state, speak different languages, belong to many religions and comprise a mosaic of socially and culturally divergent groups separated by strict rules of endogamy. Referred to as "the invisible minority", the Gypsies have for centuries been ignored ...

Screening for FecGH Mutation of Growth Differentiation Factor 9 Gene in Iranian Ghezel Sheep Population

Background Ghezel sheep are highly prolific and one of the local sheep breeds in Iran and Turkey. Growth differentiation factor-9 (GDF9) gene has been found to be essential for growth and differentiation of early ovarian follicles. Novel mutations in GDF9 have been associated with increased ovulation rates and high litter sizes in heterozygous carriers. Therefore, fecundity gene for GDF9 (FecGH...