Journal of IiME Volume 1 Issue 2 www.investinme.org Identification of Differential Genetic Profiles in Severe Forms of Fibromyalgia and Chronic Fatigue Syndrome in the UK population by Estibaliz Olano Fibromyalgia (FMS) and Chronic Fatigue Syndrome/Myalgic Encephalomyelitis (CFS/ME) are two controversial diseases with overlapping symptoms, difficult to distinguish and diagnose properly with clinical criteria. To date there are no biological markers for either condition and are diagnosed using separate but overlapping clinical criteria. All too often the patients concerns are dismissed as imaginary or unimportant and only recently they have started to be recognized and accepted by physicians. Since recent studies have started to point out the genetic background of these diseases, Progenika Biopharma, S.A. has developed a new system of DNA testing for the diagnosis and prognosis in Fibromyalgia and Chronic Fatigue Syndrome. A multidisciplinary group led by Dr. Ferrán García, Head of Rheumatology (Clínica CIMA, Barcelona), Dr. Joaquim Fernández Solá, Unit of Chronic Fatigue Syndrome (Hospital Clínic, Barcelona) and Dr. Jose Ignacio Lao, Unit of Molecular Genetics (Echevarne Laboratorie) started this research five years ago, by looking at different mutations (SNPs) associated with FM and CFS/ME. 99.8% of the genetic information is homogenous among humans, and only 0.2% is variable. These differences in our DNA can be due insertions or deletions (e.g. familial hypercholesterolemia), repeat sequences (e.g. Huntington disease CAG repeats) or Single nucleotide polymorphisms – SNPs. These SNPs are changes (mutations) of only one of the nucleotides (“building blocks”) that forms the DNA, and they account of up to 90% of the variability encountered between humans. Variations in these DNA sequences of humans can affect how we develop diseases, respond to pathogens, chemicals, drugs, etc. Therefore, SNP analysis has the potential for identification of markers for genetic predisposition to disease or even define subtypes within diseases with different prognosis, severity, drug response ..... Some of the results of this ongoing study have been presented in the 8th International IACFS Conference on Chronic Fatigue Syndrome, Fibromyalgia and other Related Illnesses held in Florida and in the ME Research conference held in Edinburgh and are summarised here: Among the individuals register in the “Fibromyalgia and/or Chronic Fatigue Syndrome patients Record” (www.fundacionfatiga.org/registro_pacientes.htm) 1500 subjects diagnosed with FM, CFS/ME or both were randomly selected and invited to participate in the study. From these, 1371 gave written consent to take part and filled in a questionnaire which included details about their diagnosis, familiar diagnosis of FM or CFS/ME and presence of mental disorders. In addition, those patients were also asked to answer the Fibromyalgia Impact Questionnaire (FIQ) for FM (Burckhardt et al., 1991; Bennett, 2005) and the CDC Invest in ME Charity Nr 1114035 Dr. Estibaliz Olano Dr. Olano is a senior scientist at Progenika Biopharma (a biotech company based in Bilbao, Spain). She is responsible for investigating the genetic profiling via SNP analysis by using it as an effective tool to discriminate between the more severe forms of fibromyalgia and chronic fatigue syndrome. Symptom Inventory (CSI) for CFS/ME (Wagner et al., 2005) and to provide a blood sample for DNA extraction. Taking into account that there is a recognized gender bias in FIQ (Bennett, 2005), eventually only women were included in the study. Previous treatment for psychiatric disorders was also considered an exclusion criterion. At the end of the selection process the number of recruited subjects was reduced to 403 patients (186 FM patients aged 45-54 years and 217 CFS patients aged 30-39 years). These cases were clinically diagnosed according to the 1990 American College of Rheumatology (ACR) classification for FM (Wolfe et al., 1990) or the US Centres for Disease Control criteria for CFS developed by Fukuda et al.1994 at the Hospital Clinic and Clinica CIMA (Barcelona, Spain). For each sample one hundred and seven SNPs were genotyped by SNPlexTM. An independent second association study with 282 women (126 FM / 156 CFS) was used to validate the results. We identified 15 SNPs able to discriminate between FM and CFS patients with a 11·5 Likelihood Ratio (LR+, 95% specificity). The analysis of further SNPs allowed differential genetic profiling between the most aggressive FM phenotype and the mild forms (12·4 LR+) and between a severe CFS phenotype and a milder one (12·4 LR+). (continued on page 20 Page 19/72

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