Common variations in estrogen-related genes are associated with severe large-joint osteoarthritis: A multicenter genetic and functional study

Osteoarthritis and Cartilage

Volumn 18, Issue 7, 2010, Pages 927-933

  Riancho, J A ^a   Garcia Ibarbia C ^a   Gravani, A ^b   Raine, E V A ^b   Rodriguez Fontenla C ^c   Soto Hermida, A ^d   Rego Perez, I ^d   Dodd, A W ^b   Gomez Reino J J ^c   Zarrabeitia, M T ^a   Garces C M ^a   Carr, A ^e   Blanco, F ^d   Gonzalez A ^c   Loughlin, J ^b  

^a UNIVERSITY OF CANTABRIA   (Spain)

^b NEWCASTLE UNIVERSITY   (United Kingdom)

^c Santiago University Clinical Hospital   (Spain)

^d HOSPITAL JUAN CANALEJO   (Spain)

^e UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

Aromatase; Estrogens; Gene expression; Genetic association study; Multicenter study; Osteoarthritis

Indexed keywords

AROMATASE; ESTROGEN RECEPTOR ALPHA;

AGED; ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; FEMALE; FEMUR; GENE EXPRESSION; GENE LOCUS; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENOTYPE; HIP OSTEOARTHRITIS; HUMAN; HUMAN TISSUE; KNEE OSTEOARTHRITIS; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; RISK FACTOR; SEX DIFFERENCE; SINGLE NUCLEOTIDE POLYMORPHISM; SPAIN; UNITED KINGDOM;

AGED; AGED, 80 AND OVER; AROMATASE; ESTROGEN RECEPTOR ALPHA; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HUMANS; JOINTS; MALE; MIDDLE AGED; OSTEOARTHRITIS; POLYMORPHISM, GENETIC; RISK FACTORS;

EID: 77954214836     PISSN: 10634584     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.joca.2010.04.002     Document Type: Article

References (44)

1. Zhang Y., Jordan J.M. Epidemiology of osteoarthritis. Rheum Dis Clin North Am 2008, 34:515-529.
2. Bitton R. The economic burden of osteoarthritis. Am J Manag Care 2009, 15:S230-S235.
3. Loughlin J. Genetic epidemiology of primary osteoarthritis. Curr Opin Rheumatol 2001, 13:111-116.
4. Spector T.D., MacGregor A.J. Risk factors for osteoarthritis: genetics. Osteoarthritis Cartilage 2004, 12(Suppl A):S39-S44.
5. Goldring M.B., Goldring S.R. Osteoarthritis. J Cell Physiol 2007, 213:626-634.
6. Syed F.S., Khosla S. Mechanisms of sex steroid effects on bone. Biochem Biophys Res Commun 2005, 328:688-696.
7. Sniekers Y.H., van Osch G.J., Jahr H., Weinans H., van Leeuwen J.P. Estrogen modulates iodoacetate-induced gene expression in bovine cartilage explants. J Orthop Res 2009.
8. Richette P., Dumontier M.F., Tahiri K., Widerak M., Torre A., Benallaoua M., et al. Estrogens inhibit interleukin-1{beta}-mediated nitric oxide synthase expression in articular chondrocytes through NF-{kappa}B impairment. Ann Rheum Dis 2007, 66:345-350.
9. Claassen H., Schluter M., Schunke M., Kurz B. Influence of 17beta-estradiol and insulin on type II collagen and protein synthesis of articular chondrocytes. Bone 2006, 39:310-317.
10. Claassen H., Schunke M., Kurz B. Estradiol protects cultured articular chondrocytes from oxygen-radical-induced damage. Cell Tissue Res 2005, 319:439-445.
11. Oshima Y., Matsuda K., Yoshida A., Watanabe N., Kawata M., Kubo T. Localization of estrogen receptors alpha and beta in the articular surface of the rat femur. Acta Histochem Cytochem 2007, 40:27-34.
12. Ryder J.J., Garrison K., Song F., Hooper L., Skinner J., Loke Y., et al. Genetic associations in peripheral joint osteoarthritis and spinal degenerative disease: a systematic review. Ann Rheum Dis 2008, 67:584-591.
13. Richette P., Corvol M., Bardin T. Estrogens, cartilage, and osteoarthritis. Joint Bone Spine 2003, 70:257-262.
14. Sowers M.R., McConnell D., Jannausch M., Buyuktur A.G., Hochberg M., Jamadar D.A. Estradiol and its metabolites and their association with knee osteoarthritis. Arthritis Rheum 2006, 54:2481-2487.
15. Cirillo D.J., Wallace R.B., Wu L., Yood R.A. Effect of hormone therapy on risk of hip and knee joint replacement in the Women's Health Initiative. Arthritis Rheum 2006, 54:3194-3204.
16. Ravn P., Warming L., Christgau S., Christiansen C. The effect on cartilage of different forms of application of postmenopausal estrogen therapy: comparison of oral and transdermal therapy. Bone 2004, 35:1216-1221.
17. Ham K.D., Loeser R.F., Lindgren B.R., Carlson C.S. Effects of long-term estrogen replacement therapy on osteoarthritis severity in cynomolgus monkeys. Arthritis Rheum 2002, 46:1956-1964.
18. Ma H.L., Blanchet T.J., Peluso D., Hopkins B., Morris E.A., Glasson S.S. Osteoarthritis severity is sex dependent in a surgical mouse model. Osteoarthritis Cartilage 2007, 15:695-700.
19. Sniekers Y.H., van Osch G.J., Ederveen A.G., Inzunza J., Gustafsson J.A., van Leeuwen J.P., et al. Development of osteoarthritic features in estrogen receptor knockout mice. Osteoarthritis Cartilage 2009, 17:1356-1361.
20. Olson E.J., Lindgren B.R., Carlson C.S. Effects of long-term estrogen replacement therapy on the prevalence and area of periarticular tibial osteophytes in surgically postmenopausal cynomolgus monkeys. Bone 2007, 41:282-289.
21. Sniekers Y.H., Weinans H., Bierma-Zeinstra S.M., van Leeuwen J.P., van Osch G.J. Animal models for osteoarthritis: the effect of ovariectomy and estrogen treatment - a systematic approach. Osteoarthritis Cartilage 2008, 16:533-541.
22. Hernandez J.L., Garcés C.M., Sumillera M., Fernandez-Aldasoro E.V., Garcia-Ibarbia C., Ortiz J.A., et al. Aromatase expression in osteoarthritic and osteoporotic bone. Arthritis Rheum 2008, 58:1696-1700.
23. Riancho J.A., Zarrabeitia M.T., Valero C., Sanudo C., Mijares V., Gonzalez-Macias J. A gene-to-gene interaction between aromatase and estrogen receptors influences bone mineral density. Eur J Endocrinol 2006, 155:53-59.
24. Riancho J.A., Sanudo C., Valero C., Pipaon C., Olmos J.M., Mijares V., et al. Association of the aromatase gene alleles with BMD: epidemiological and functional evidence. J Bone Miner Res 2009, 24:1709-1718.
25. Ushiyama T., Ueyama H., Inoue K., Nishioka J., Ohkubo I., Hukuda S. Estrogen receptor gene polymorphism and generalized osteoarthritis. J Rheumatol 1998, 25:134-137.
26. Lian K., Lui L., Zmuda J.M., Nevitt M.C., Hochberg M.C., Lee J.M., et al. Estrogen receptor alpha genotype is associated with a reduced prevalence of radiographic hip osteoarthritis in elderly Caucasian women. Osteoarthritis Cartilage 2007, 15:972-978.
27. Bergink A.P., van Meurs J.B., Loughlin J., Arp P.P., Fang Y., Hofman A., et al. Estrogen receptor alpha gene haplotype is associated with radiographic osteoarthritis of the knee in elderly men and women. Arthritis Rheum 2003, 48:1913-1922.
28. Khosla S., Melton L.J., Riggs B.L. Estrogen and the male skeleton. J Clin Endocrinol Metab 2002, 87:1443-1450.
29. Riggs B.L., Khosla S., Melton L.J. Sex steroids and the construction and conservation of adult skeleton. Endocr Rev 2002, 23:279-302.
30. Roman-Blas J.A., Castaneda S., Largo R., Herrero-Beaumont G. Osteoarthritis associated with estrogen deficiency. Arthritis Res Ther 2009, 11:241.
31. de Klerk B.M., Schiphof D., Groeneveld F.P., Koes B.W., van Osch G.J., van Meurs J.B., et al. No clear association between female hormonal aspects and osteoarthritis of the hand, hip and knee: a systematic review. Rheumatology (Oxford) 2009, 48:1160-1165.
32. de Klerk B.M., Schiphof D., Groeneveld F.P., Koes B.W., van Osch G.J., van Meurs J.B., et al. Limited evidence for a protective effect of unopposed oestrogen therapy for osteoarthritis of the hip: a systematic review. Rheumatology (Oxford) 2009, 48:104-112.
33. Casas J.P., Bautista L.E., Smeeth L., Sharma P., Hingorani A.D. Homocysteine and stroke: evidence on a causal link from Mendelian randomisation. Lancet 2005, 365:224-232.
34. Smith G.D., Ebrahim S. Mendelian randomization: prospects, potentials, and limitations. Int J Epidemiol 2004, 33:30-42.
35. Valero C., Perez-Castrillon J.L., Zarrabeitia M.T., Hernandez J.L., Alonso M.A., Pino-Montes J., et al. Association of aromatase and estrogen receptor gene polymorphisms with hip fractures. Osteoporos Int 2008, 19:787-792.
36. Li F., Yu S., Feng X., Wang H., Fu S., Ding Y. Locally synthesized estrogen: a novel target in the development of OA. Med Hypotheses 2009, 73:144-146.
37. Simpson E.R. Role of aromatase in sex steroid action. J Mol Endocrinol 2000, 25:1549-1556.
38. McCloskey E. Effects of third-generation aromatase inhibitors on bone. Eur J Cancer 2006, 42:1044-1051.
39. Leskela H.V., Olkku A., Lehtonen S., Mahonen A., Koivunen J., Turpeinen M., et al. Estrogen receptor alpha genotype confers interindividual variability of response to estrogen and testosterone in mesenchymal-stem-cell-derived osteoblasts. Bone 2006, 39:1026-1034.
40. Valdes A.M., Van Oene M., Hart D.J., Surdulescu G.L., Loughlin J., Doherty M., et al. Reproducible genetic associations between candidate genes and clinical knee osteoarthritis in men and women. Arthritis Rheum 2006, 54:533-539.
41. Jin S.Y., Hong S.J., Yang H.I., Park S.D., Yoo M.C., Lee H.J., et al. Estrogen receptor-alpha gene haplotype is associated with primary knee osteoarthritis in Korean population. Arthritis Res Ther 2004, 6:R415-R421.
42. Chen S., Ye J., Kijima I., Kinoshita Y., Zhou D. Positive and negative transcriptional regulation of aromatase expression in human breast cancer tissue. J Steroid Biochem Mol Biol 2005, 95:17-23.
43. Kinney R.C., Schwartz Z., Week K., Lotz M.K., Boyan B.D. Human articular chondrocytes exhibit sexual dimorphism in their responses to 17beta-estradiol. Osteoarthritis Cartilage 2005, 13:330-337.
44. Oz O.K., Zerwekh J.E., Graves K., Nanu L., Millsaps R., Simpson E.R. Bone has a sexually dimorphic response to aromatase deficiency. J Bone Miner Res 2000, 15:507-514.