Barbara Schormair

During the last three decades, the study of inbred populations has contributed remarkably to the description of new autosomal recessive (AR) forms of genetic diseases including Inborn Errors of Immunity (IEI) [1], [2], [3]. The detrimental health effects associated with consanguinity are caused by the expression of rare, recessive genes inherited from a common ancestor [4], [5], [6], [7].

Abstract Restless legs syndrome (RLS) affects up to 10% of older adults. Their healthcare is impeded by delayed diagnosis and insufficient treatment. To advance disease prediction and find new entry points for therapy, we performed meta-analyses of genome-wide association studies in 116,647 individuals with RLS (cases) and 1,546,466 controls of European ancestry. The pooled analysis increased the number of risk loci eightfold to 164, including three on chromosome X.

Summary The dicarbonyl compounds methylglyoxal (MG), glyoxal (GO) and 3-deoxyglucosone (3-DG) have been linked to various diseases. However, disease-independent phenotypic and genotypic association studies with phenome-wide and genome-wide reach, respectively, have not been provided. MG, GO and 3-DG were measured by LC-MS in 1304 serum samples of two populations (KORA, n = 482; BiDirect, n = 822) and assessed for associations with genome-wide SNPs (GWAS) and with phenome-wide traits.