The single nucleotide polymorphism (SNP) of the estrogen receptor-β gene, rs1256049, is associated with knee osteoarthritis in Korean population

Knee

Volumn 21, Issue 1, 2014, Pages 242-246

  Lee, Suk Woo ^a   Song, Joo Hyoun ^a   Choi, Won Suk ^a   Yoon, Jung Hwan ^a   Kim, Olga ^a   Park, Yong Gyu ^a   Nam, Suk Woo ^a   Lee, Jung Young ^a   Park, Won Sang ^a  

^a The Catholic University of Korea   (South Korea)

Author keywords

ER ; Genetic susceptibility; Osteoarthritis; Rsa polymorphism; Single nucleotide polymorphism

Indexed keywords

ESTROGEN RECEPTOR BETA;

ADULT; ALLELE; ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE PREDISPOSITION; ESTROGEN RECEPTOR BETA GENE; FEMALE; GENE FREQUENCY; GENETIC SUSCEPTIBILITY; GENOTYPE; HETEROZYGOTE; HIGH RISK POPULATION; HOMOZYGOTE; HUMAN; HUMAN TISSUE; KNEE OSTEOARTHRITIS; KOREA; MAJOR CLINICAL STUDY; MALE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RISK ASSESSMENT; SINGLE NUCLEOTIDE POLYMORPHISM; SINGLE STRAND CONFORMATION POLYMORPHISM;

ER-Β; GENETIC SUSCEPTIBILITY; OSTEOARTHRITIS; RSA POLYMORPHISM; SINGLE NUCLEOTIDE POLYMORPHISM;

ASIAN CONTINENTAL ANCESTRY GROUP; CASE-CONTROL STUDIES; ESTROGEN RECEPTOR BETA; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; LOGISTIC MODELS; MALE; MIDDLE AGED; OSTEOARTHRITIS, KNEE; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; POLYMORPHISM, SINGLE NUCLEOTIDE; REPUBLIC OF KOREA;

EID: 84892484031     PISSN: 09680160     EISSN: 18735800     Source Type: Journal    
DOI: 10.1016/j.knee.2012.12.011     Document Type: Article

References (37)

1. Hunter D.J., March L., Sambrook P.N. Knee osteoarthritis: the influence of environmental factors. Clin Exp Rheumatol 2002, 20:93-100.
2. Peach C.A., Carr A.J., Loughlin J. Recent advances in the genetic investigation of osteoarthritis. Trends Mol Med 2005, 11:186-191.
3. Iagnocco A., Naredo E. Osteoarthritis: research update and clinical applications. Rheumatology 2012, 51:vii2-vii5.
4. Song J.H., Lee H.S., Kim C.J., Nam S.W., Lee J.Y., Park W.S., et al. Aspartic acid repeat polymorphism of the asporin gene with susceptibility to osteoarthritis of the knee in a Korean population. Knee 2008, 15:191-195.
5. Kim I.J., Kim H.A., Seo Y.I., Song Y.W., Jeong J.Y., Kim D.H. The prevalence of knee osteoarthritis in elderly community residents in Korea. J Korean Med Sci 2010, 25:293-298.
6. Felson D.T., Nevitt M.C. Estrogen and osteoarhtiritis: how do we explain conflicting study results?. Prev Med 1999, 28:445-448.
7. Felson D.T., Zhang Y., Hannan M.T., Kiel D.P., Wilson P.W., Anderson J.J. The effect of postmenopausal estrogen therapy on bone density in elderly women. N Engl J Med 1993, 329:1141-1146.
8. Spector T.P., Campion G.D. Generalized osteoarthritis: a hormonally mediated disease. Ann Rheum Dis 1989, 48:523-527.
9. Lin C.Y., Strom A., Vega V.B., Kong S.L., Yeo A.L., Thomsen J.S., et al. Discovery of estrogen receptor alpha target genes and response elements in breast tumor cells. Genome Biol 2004, 5:R66.
10. Kuiper G.G., Enmark E., Pelto-Huikko M., Nilsson S., Gustafsson J.A. Cloning of a novel estrogen receptor expressed in rat prostate and ovary. Proc Natl Acad Sci U S A 1996, 93:5925-5930.
11. Mosselman S., Polman J., Dijkema R. ER beta: identification and characterization of a novel human estrogen receptor. FEBS Lett 1996, 392:49-53.
12. Ushiyama T., Ueyama H., Inoue K., Ohkubo I., Hukuda S. Expression of genes for estrogen receptors a and b in human articular chondrocytes. Osteoarthritis Cartilage 1999, 7:560-568.
13. Richette P., Corvol M., Bardin T. Estrogens, cartilage, and osteoarthritis. Joint Bone Spine 2003, 32:678-683.
14. Sato H., Ito A., González-Canga A., Okuzawa H., Ugai K., Suzuki M., et al. Association of Rsa polymorphism of the estrogen receptor-β g ene with rheumatoid arhtiritis. Rheumatol Int 2011, 32(7):2143-2148.
15. 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.
16. 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.
17. Han K.O., Moon I.G., Kang Y.S. Nonassociation of estrogen receptor genotypes with bone mineral density and estrogen responsiveness to hormone replacement therapy in Korean postmenopausal women. J Clin Endocrinol Metab 1997, 82:991-995.
18. Ongphiphadhanakul B., Rajatanavin R., Chanprasertyothin S., Piaseu N., Chailurkit L., Sirisriro R., et al. Estrogen receptor gene polymorphism is associated with bone mineral density in premenopausal women but not in postmenopausal women. J Endocrinol Invest 1998, 21:487-493.
19. Vandevyver C., Vanhoof J., Declerck K., Stinissen P., Vandervorst C., Michiels L., et al. Lack of association between estrogen receptor genotypes and bone mineral density, fracture history, or muscle strength in elderly women. J Bone Miner Res 1999, 14:1576-1582.
20. Willing M., Sowers M., Aron D., Clark M.K., Burns T., Bunten C., et al. Bone mineral density and its change in white women: estrogen and vitamin D receptor genotypes and their interaction. J Bone Miner Res 1998, 13:695-705.
21. Ogawa S., Hosoi T., Shiraki M., Orimo H., Emi M., Muramatsu M., et al. Association of estrogen receptor β gene polymorphism with bone mineral density. Biochem Biophys Res Commun 2000, 269:537-541.
22. SNP database network in Japan home page [homepage on the Internet] Available from. http://snpnet.jst.go.jp/top.html.
23. Cvoro A., Tatomer D., Tee M.K., Zoqovic T., Harris H.A., Leitman D.C. Selective estrogen receptor-beta agonist repress transcription of proinflammatory genes. J Immunol 2008, 180:630-636.
24. Lee J.Y., Dong S.M., Kim S.Y., Yoo N.J., Lee S.H., Park W.S. A simple, precise and economical microdissection technique for analysis of genomic DNA from archival tissue sections. Virchows Arch 1998, 433:305-309.
25. Ascenzi P., Bocedi A., Marino M. Structure-function relationship of estrogen receptor alpha and beta: impact on human health. Mol Aspects Med 2006, 27:299-402.
26. Bourguet W., Germain P., Gronemeyer H. Nuclear receptor ligand-binding domains: three-dimensional structures, molecular interactions and pharmacological implications. Trends Pharmacol Sci 2000, 21:381-388.
27. Couse J.F., Lindzey J., Grandien K., Gustafsson J.A., Korach K.S. Tissue distribution and quantitative analysis of estrogen receptor-alpha (ERalpha) and estrogen receptor-beta (ERbeta) messenger ribonucleic acid in the wild-type and ERalpha-knockout mouse. Endocrinology 1997, 138:4613-4621.
28. Yaghmaie F., Saeed O., Garan S.A., Freitag W., Timiras P.S., Sternberg H. Caloric restriction reduces cell loss and maintains estrogen receptor-alpha immunoreactivity in the pre-optic hypothalamus of female B6D2F1 mice. Neuro Endocrinol Lett 2005, 26:197-203.
29. Hess R.A. Estrogen in the adult male reproductive tract: a review. Reprod Biol Endocrinol 2003, 1:52.
30. Babiker F.A., De Windt L.J., van Eickels M., Grohe C., Meyer R., Doevendans P.A. Estrogenic hormone action in the heart: regulatory network and function. Cardiovasc Res 2002, 53:709-719.
31. Harris H.A. Estrogen receptor-beta: recent lessons from in vivo studies. Mol Endocrinol 2007, 21:1-13.
32. Harris H.A., Lm Albert, Leathurby Y., Malamas M.S., Mewshaw R.E., Miller C.P., et al. Evaluation of an estrogen receptor-beta agonist in animal models of human disease. Endocrinology 2003, 180:630-636.
33. Follettie M.T., Pinard M., Keith J.C., Wang L., Chelsky D., Hayward C., et al. Organ messenger ribonucleic acid and plasma proteome changes in the adjuvant-induced arthritis model: responses to disease induction and therapy with the estrogen receptor-beta selective agonist ERB-041. Endocrinology 2006, 147:714-723.
34. Nilsson M., Naessén S., Dahlman I., Lindén Hirschberg A., Gustafsson J.A., Dahlman-Wright K. Association of estrogen receptor beta gene polymorphisms with bulimic disease in women. Mol Psychiatry 2004, 9:28-34.
35. Sano M., Inoue S., Hosoi T., Ouchi Y., Emi M., Shiraki M., et al. Association of estrogen receptor dinucleotide repeat polymorphism with osteoporosis. Biochem Biophys Res Commun 1995, 217:378-383.
36. Nikkari S.T., Henttonen A., Kunnas T., Kähönen M., Hutri-Kähönen N., Juonala M., et al. Estrogen receptor 2 polymorphism and carotid intima-media thickness. Genet Test 2008, 12:537-540.
37. Ryan J., Scali J., Carrière I., Scarabin P.Y., Ritchie K., Ancelin M.L. Estrogen receptor gene variants are associated with anxiety disorders in older women. Psychoneuroendocrinology 2011, 36:1582-1586.