Principal Investigator: Professor Kari Stefansson
deCODE genetics ehf, CEO, Sturlugata 8, Reykjavik IS101, IcelandTags: 24898, featured, GWAS, Lumbar Disc Disease, Replication
1a: Aims:To replicate, in a different population, findings from a GWAS in Iceland on lumbar disc disease. For these purposes, we are requesting access to UK Biobank genotype data for relevant phenotypes and age and gender-matched population controls.
1b: The stated aim of UK Biobank is to support research that improves prevention, diagnosis and treatment of a wide range of serious and life-threatening illnesses. While lumbar disc disease is not life-threatening, it causes serious pain and disability. Indeed, chronic lower back pain is the most common cause of disability in young adults (<45); Its socioeconomic impact is therefore considerable. The pathophysiology of lumbar disc disease or its consequences is not well understood. Genetic findings can improve understanding of the biological underpinnings of this complex and common condition and generate knowledge that could eventually improve prevention and treatment.
1c: A set of common markers associating with lumbar disc disease have been discovered in the Icelandic population. To replicate our findings, we are requesting access to genotype data associated with relevant lumbar disc disease phenotypes and population control data available in the UK Biobank. We intend to conduct a case/control GWAS using the UK Biobank data and compare results with our GWAS findings in the Icelandic population.
1d: As the proposed research involves cases and controls, we would like to receive the full cohort with the requested subset of phenotype data.