Humanexome v1.0 beadchip

CRP levels are heritable and variants in the CRP gene are associated with differences in CRP levels but not cardiovascular risk.^{14 (link), 23 (link), 24 (link)} As previously reported,^{25 (link), 26 (link)} the HFN Genomics Core laboratory (Université de Montréal Beaulieu-Saucier Pharmacogenomics Centre at the Montreal Heart Institue) has genotyped consenting patients using custom candidate gene and broad-based assays including the Illumina HumanOmni2.5-8 BeadChip and Illumina HumanExome v1.0 Beadchip (RELAX trial) and the Illumina Infinium Omni2-5Exome-8v1-3 BeadChip (INDIE and NEAT trials).
PyGenClean versions 1.2.5/1.8.3 and PLINK version 1.07 were used for the quality checks and genetic data cleanup process for RELAX and separately for INDIE and NEAT.^{27 (link)} Three CRP polymorphisms (rs1205, rs1130864, rs3093077; 100% genotype completion rates) associated with plasma CRP levels were used to generate the nine most common genotype combinations and subsequently, these were compressed into three groups ranked according to incrementally higher CRP levels as previously described^{24 (link)}.

We performed genome wide genotyping in seven unrelated probands who were either homozygous (two probands) or heterozygous (five probands) for the GJB2 c.131G>A variant. Samples from other individuals with c.131G>A were not available for the study. 240,000 SNPs were genotyped using Illumina Human Exome v1.0 Bead–chip. Each sample was processed according to standard protocol for Infinium HD ® Ultra assay (Illumina). Illumina ® Genome Studio software was used to extract data created by the Illumina iscan.