Background Single nucleotide polymorphisms (SNPs) rs429358 (ε4) and rs7412 (ε2), both
invoking changes in the amino-acid sequence of the apolipoprotein E (APOE) gene, have …

An intronic variant in ANKRD55, rs6859219, is a genetic risk factor for multiple sclerosis, but
the biological reasons underlying this association are unknown. We characterized the …

Genotypes causing pregnancy loss and perinatal mortality are depleted among living
individuals and are therefore difficult to find. To explore genetic causes of recessive lethality …

Immunoglobulins are the effector molecules of the adaptive humoral immune system. In a
genome-wide association study of 19,219 individuals, we found 38 new variants and …

Background: Single nucleotide polymorphisms (SNPs) near SOCS1 are associated with
multiple sclerosis (MS), but the most important SNPs in the area and mechanisms by which …

Thousands of non-coding variants have been associated with increased risk of human
diseases, yet the causal variants and their mechanisms-of-action remain obscure. In an …

Multiple myeloma (MM) is caused by the uncontrolled, clonal expansion of plasma cells.
While there is epidemiological evidence for inherited susceptibility, the molecular basis …

Human genetic variation has enabled the identification of several key regulators of fetal-to-
adult hemoglobin switching, including BCL11A, resulting in therapeutic advances. However …

Stem cell transplantation is a cornerstone in the treatment of blood malignancies. The most
common method to harvest stem cells for transplantation is by leukapheresis, requiring …

The IL22RA2 locus is associated with risk for multiple sclerosis (MS) but causative variants
are yet to be determined. In a single nucleotide polymorphism (SNP) screen of this locus in a …