Anja Medack

TL;DR: Haplotype B in the ALOX5AP gene was associated with an increased risk of MI in the German population, confirming previously reported associations of this haplotype with CAD in populations from Scotland and Italy and substantiates further a role of this gene in the pathogenesis of CAD in Europeans.

TL;DR: Whole-exome sequencing may facilitate identification of disease-causing variants in families with unclear etiology of MI and enable preventive treatment of mutation carriers in a more timely fashion.

TL;DR: A new potentially MI-causing variant in the PDE5A gene is identified using whole-exome sequencing using WES that causes a stop-codon in the first exon of one of the three known PDE5A transcripts.

TL;DR: Interestingly, highly varying LDLC levels initially impeded the diagnosis of heterozygous familial hypercholesterolaemia, showing the power of systematic WES approaches for identification of disease causing variants within families.