Colin A. Graham

TL;DR: In this article, a collaborative GWAS involving 9,772 cases of European descent collected by 23 research groups working in 15 different countries, they have replicated almost all of the previously suggested associations and identified at least a further 29 novel susceptibility loci.

TL;DR: Optimized methods for reliable sizing of CAG repeats are optimized and cases that demonstrate the dangers of using PCR assays that include both the CAG and CCG polymorphisms are shown.

TL;DR: In families with definite FH (tendon xanthoma present, n=68) the improved genetic screening protocol increased the detection rate of mutations to 87% and greatly enhances the potential value of this test as part of a clinical screening program for FH.

TL;DR: No major novel locus for FH was detected, with no gene having a functional variant in more than three patients; however, an excess of novel variants was found in 18 genes, which suggests that the genetic cause of FH in these unexplained cases is likely to be very heterogeneous, which complicates the diagnostic and novel gene discovery process.

TL;DR: It is hypothesized that polymorphisms may occur within or close to ISRE elements, altering type I interferon inducibility and ultimately leading to a modified clinical response in carriers.