T. Skaaby

Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals

O. Pedersen, James R Staley, M.E. Jørgensen, T. Tuomi et autres

Genetic studies of blood pressure (BP) to date have mainly analyzed common variants (minor allele frequency > 0.05). In a meta-analysis of up to ~1.3 million participants, we discovered 106 new BP-associated genomic regions and 87 rare (minor allele frequency ≤ 0.01) …

Meta-analysis of exome array data identifies six novel genetic loci for lung function

David J. Porteous, André G. Uitterlinden, George O'connor, Jonathan Marten et autres

Background: Over 90 regions of the genome have been associated with lung function to date, many of which have also been implicated in chronic obstructive pulmonary disease. Methods: We carried out meta-analyses of exome array data and three lung function measures: forced …

Genetic studies of leptin concentrations implicate leptin in the regulation of early adiposity

A.P. Reiner, O.T. Raitakari, A.P. Morris, P.M. Ridker et autres

Leptin influences food intake by informing the brain about the status of body fat stores. Rare LEP mutations associated with congenital leptin deficiency cause severe early-onset obesity that can be mitigated by admin-istering leptin. However, the role of genetic regulation of leptin …

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New Blood Pressure-Associated Loci Identified in Meta-Analyses of 475,000 Individuals

D.I. Chasman, K.-H. Herzig, M. Laakso, A.T. Kraja et autres

Background - Genome-wide association studies have recently identified >400 loci that harbor DNA sequence variants that influence blood pressure (BP). Our earlier studies identified and validated 56 single nucleotide variants (SNVs) associated with BP from meta-analyses of exome chip genotype data. An …

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