Using genome-wide association data from 11,686 participants from five large studies, Sandhu et al. sought to determine some of the genetic determinants of plasma LDL cholesterol concentrations. By finding three single nucleotide polymorphisms statistically associated with plasma LDL cholesterol at chromosomal locus 1p13.3, they confirmed and extended the associations of this phenotype with chromosome 1p13.3. This region of the chromosome includes the genes CELSR2, PSRC1, SORT1, and MYBPHL, and although none of these genes have previously been linked to lipoprotein-lipid metabolism, results of this investigation could provide insights into the biological mechanisms that regulate plasma LDL cholesterol levels. The authors concluded that functional studies are required to help clarify the role of these genes and the proteins that they encode in metabolic disorders.
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