A total of 280 cases of agranulocytosis have undergone whole genome scan with the Illumina HumanOmni2.5 (>2.4 million SNPs) at the Uppsala University SNP&SEQ Technology Platform. This has been compared with population controls and the results will be published in spring 2016.
ACE-inhibitor/AII-receptor blocker induced angioedema
About 300 cases will undergo exome sequencing. This is done in collaboration with other European centers within the 7th Framework programme and headed by Prof Colin Palmer of the University of Dundee, UK. Results are expected during late 2016.
About 110 cases have been genotyped with Illumina HumanOmni2.5 and association studies are ongoing.
Statin-induced myopathy and rhabdomyolysis
A total of 50 cases have been collected and are to undergo exome sequencing. Through collaboration with other European centers within the 7th Framework programme and headed by Prof Colin Palmer of the University of Dundee, UK, it is expected that a total of at least 300 cases will be collected.
Drug-induced liver toxicity (DILI)
The DILI investigation is led by Prof Ann Daly at Newcastle University, UK. Swedegene contributes with about 150 cases, and analyses are ongoing.
Drug-induced serious skin reactions
Analyses of cases of Stevens-Johnson disease and toxic epidermal necrolysis are headed by Prof Munir Pirmuhamed at University of Liverpool, UK. Swedegene contributes with about 30 cases, and analyses are ongoing.
Bisphosphonate-induced osteonecrosis of the jaw (BONJ)
Analyses of cases of BONJ are currently ongoing and headed by Dr Stefano Fedele at Eastman Dental Institute, UK. Swedegene contributes with about 50 cases.