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Back pain (BP) is a common condition of major social importance and poorly understood pathogenesis. Intervertebral lumbar disc degeneration in all its guises is one of the major biological risk factors for BP. Previously, we identified the locus at 8q24.21 associated with chronic BP, which has been found elsewhere associated with sciatica after surgery for lumbar disc herniation. In the current study we used co-localisation methods to identify the gene most likely to harbor the causal variant. We show that the same functional variant at the 8q24.21 locus is responsible for both lumbar disc degeneration and BP, and we also studied the effects of this locus on related phenotypes. Our results link the locus to intervertebral disc and bone mineral density, but not to anthropometric measurements, thus corroborating the epidemiological evidence. Moreover, the same functional variant at the locus is more likely to affect the expression of the nearby FAM49B gene, rather than the GSDMC gene, which was previously proposed as a causative one for BP.
Genetic and epidemiological analyses of low back pain
We wish to perform genetic analysis and meta-analysis to identify markers associated with low back pain as part of the FP7 Pain_omics study. In addition, we would like to examine environmental risk factors for low back pain. Using the phenotypes reported in the UK biobank database we wish to study the detailed low back pain phenotype and associated genotype of all volunteers. We will classify subjects as cases who report low back pain and controls who don't. From GWAS analysis we hope to improve the knowledge of this common health condition and ultimately improve treatment of low back pain. We will perform epidemiological and genetic epidemiological studies of low back pain (LBP) by comparing profiles of individuals presenting with back pain to those who do not present with back pain. We note that many more people report LBP than don't. As such, it might be appropriate to
a. consider a combined phenotype with other chronic pain such as leg pain
b. consider the 'controls' as cases and regard the GWAS as a search for variants which protect against LBP.
We will also examine variables influencing LBP such as sex, age, BMI alcohol consumption, socioeconomic status, smoking, exercise, occupation. The full cohort (>500,000)and more as available