Association of COL1A1 rs180012 SNP and Fibromyalgia Suggests the Implication of Collagen Structure in Musculoskeletal Pain
- 1 Departamento de Genética Molecular, Citogen, Zaragoza, Spain
- 2 Departmento de Fisiatría y Enfermería, Facultad de Ciencias de la Salud y el Deporte, Universidad de Zaragoza. Zaragoza, Spain
- 3 Departamento de Bioquímica, Biología Molecular y Celular—Centro de Investigaciones Biomédicas en Red de Enfermedades Raras (CIBERER)—Instituto de Investigación Sanitaria de Aragón (IISA), Zaragoza, Spain
- 4 Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, Zaragoza, Spain
Abstract
Fibromyalgia (FM) is a complex, chronic condition, which causes widespread musculoskeletal pain, fatigue and a variety of other symptoms. Many polymorphisms related to neuroendocrine system function as the ApoE isoforms, Val158Met polymorphism in COMT, as well as a 44 bp deletion located in 5-HTTLPR, have been studied. Other polymorphisms have been related to inflammatory response such as the 70 bp VNTR in IL-4 or to citokine levels. Furthermore, some studies focused on finding out new FM related SNPs, have been performed by genome wide association scan (GWAS). The target of this work was to study a possible linkage of a collagen type I polymorphism (COL1A1 rs180012 SNP) affecting bone mineralization, with fibromyalgia. Results obtained show a clear association of ss homozygous genotype with FM patients no dependent on bone mineralization.
- Wolfe, F., Smythe, H.A., Yunus, M.B., Bennett, R.M., Bombardier, C., Goldenberg, D.L., Tugwell, P., Campbell, S.M., Abeles, M. and Clark, P. (1990) The American College of Rheumatology 1990 Criteria for the Classification of Fibromyalgia. Report of the Multicenter Criteria Committee. Arthritis & Rheumatology, 33, 160-172. https://doi.org/10.1002/art.1780330203
- Ribel-Madsen, S., Gronemann, S.T., Bartels, E.M., Danneskiold-Samsøe, B. and Bliddal, H. (2005) Collagen Structure in Skin from Fibromyalgia Patients. International Journal of Tissue Reactions, 27, 75-82.
- Gronemann, S.T., Ribel-Madsen, S., Bartels, E.M., Danneskiold-Samsoe, B. and Bliddal, H. (2004) Collagen and Muscle Pathology in Fibromyalgia Patients. Rheumatology (Oxford), 43, 27-31. https://doi.org/10.1093/rheumatology/keg452
- Ribel-Madsen, S., Christgau, S., Gronemann, S.T., Bartels, E.M., Danneskiold-Samsøe, B. and Bliddal, H. (2007) Urinary Markers of Altered Collagen Metabolism in Fibromyalgia Patients. Scandinavian Journal of Rheumatology, 36, 470-477. https://doi.org/10.1080/03009740701483048
- Stewart, T.L., Roschger, P., Misof, B.M., Mann, V., Fratzl, P., Klaushofer, K., Aspden, R. and Ralston, S.H. (2005) Association of COLIA1 Sp1 Alleles with Defective Bone Nodule Formation in Vitro and Abnormal Bone Mineralization in Vivo. Calcified Tissue International, 77, 113-118. https://doi.org/10.1007/s00223-004-0188-8
- Grant, S.F., Reid, D.M., Blake, G., Herd, R., Fogelman, I. and Ralston, S.H. (1996) Reduced Bone Density and Osteoporosis Associated with a Polymorphic Sp1 Binding Site in the Collagen Type I Alpha 1 Gene. Nature Genetics, 14, 203-205. https://doi.org/10.1038/ng1096-203
- MacDonald, H.M., McGuigan, F.A., New, S.A., Campbell, M.K., Golden, M.H., Ralston, S.H. and Reid, D.M. (2001) COL1A1 Sp1 Polymorphism Predicts Perimenopausal and Early Postmenopausal Spinal Bone Loss. Journal of Bone and Mineral Research, 16, 1634-1641. https://doi.org/10.1359/jbmr.2001.16.9.1634
- Mann, V., Hobson, E.E., Li, B., Stewart, T.L., Grant, S.F., Robins, S.P., Aspden, R.M. and Ralston, S.H. (2001) A COL1A1 Sp1 Binding Site Polymorphism Predisposes to Osteoporotic Fracture by Affecting Bone Density and Quality. Journal of Clinical Investigation, 107, 899-907. https://doi.org/10.1172/JCI10347
- Vicente-Rodriguez, G., Ara, I., Perez-Gomez, J., Dorado, C. and Calbet, J.A. (2005) Muscular Development and Physical Activity as Major Determinants of Femoral Bone Mass Acquisition during Growth. British Journal of Sports Medicine, 39, 611-616. https://doi.org/10.1136/bjsm.2004.014431