Increased left ventricular mass (LVM) is an intermediate phenotype for cardiovascular disease (CVD) and a predictor of stroke. In Dec 29, 2017, Nicole D. Dueker and others published an article in << G3 >> which title is “Sequencing of Linkage Region on Chromosome 12p11 Identifies PKP2 as a Candidate Gene for Left Ventricular Mass in Dominican Families” . Using families from the Dominican Republic, they have previously shown LVM to be heritable and found evidence for linkage to chromosome 12p11. Their current study aimed to further characterize the QTL by sequencing the 1 LOD unit down region in ten families from the Dominican Republic with evidence for linkage to LVM. Within this region, they tested 5,477 common variants (CVs; minor allele frequency [MAF] ≥5%) using the QTDT test. Gene-based analyses were performed to test rare variants (RVs; MAF<5%) in 181 genes using the family-based sequence kernel association test. PKP2 encodes the plakophilin 2 protein and is a desmosomal gene implicated in arrythmogenic right ventricular cardiomyopathy and recently in arrhythmogenic left ventricular cardiomyopathy, which makes PKP2 an excellent candidate gene for LVM. In conclusion, sequencing of their previously reported QTL identified common and rare variants within PKP2 to be associated with LVM. Future studies are necessary to elucidate the role these variants play in influencing LVM.
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