Loss-of-Function Variants in as Modifying Factors in Beta-Thalassemia.

It is well known that modifiers play a role in ameliorating or exacerbating disease phenotypes in patients and carriers of recessively inherited disorders such as sickle cell disease and thalassemia. Here, we give an overview of the literature concerning a recently described association in carriers of Loss-of-Function variants with a beta-thalassemia-like phenotype including the characteristic elevated levels of HbA. That acts as modifier in beta-thalassemia carriers became evident from three reported cases in whom combined heterozygosity of and gene variants was observed to resemble a mild beta-thalassemia intermedia phenotype.

Exposome-Wide Association Study of Body Mass Index Using a Novel Meta-Analytical Approach for Random Forest Models.

Background: Overweight and obesity impose a considerable individual and social burden, and the urban environments might encompass factors that contribute to obesity. Nevertheless, there is a scarcity of research that takes into account the simultaneous interaction of multiple environmental factors.

Objectives: Our objective was to perform an exposome-wide association study of body mass index (BMI) in a multicohort setting of 15 studies.

The hemoglobinopathies, molecular disease mechanisms and diagnostics.

Hemoglobinopathies are the most common monogenic disorders in the world with an ever increasing global disease burden each year. As most hemoglobinopathies show recessive inheritance carriers are usually clinically silent. Programmes for preconception and antenatal carrier screening, with the option of prenatal diagnosis are considered beneficial in many endemic countries.

Comparative study of two birth cohorts: did the explanatory role of behavioural, social and psychological factors in educational inequalities in mortality change over time?

Objectives: To investigate the contribution of behavioural, social and psychological factors to inequalities in mortality by educational level between birth cohorts.

Design: Cohort-sequential design.

Setting: Two population-based studies in the Netherlands: the Longitudinal Aging Study Amsterdam (LASA) and the Doetinchem Cohort Study (DCS).