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01-10-2006 | Original Article

Distinct association of gene polymorphisms of estrogen receptor and vitamin D receptor with lumbar spondylosis in post-menopausal women

Authors: Yu Koshizuka, Naoshi Ogata, Masataka Shiraki, Takayuki Hosoi, Atsushi Seichi, Katsushi Takeshita, Kozo Nakamura, Hiroshi Kawaguchi

Published in: European Spine Journal | Issue 10/2006

Abstract

Contribution of genetic backgrounds to the etiology of lumbar spondylosis has been suggested by epidemiological studies. This study was designed to determine the association of restriction fragment length polymorphisms (RFLPs) of estrogen receptor (ER), vitamin D receptor (VDR), parathyroid hormone (PTH) and interleukin-1β (IL-1β) genes with the radiological severity of lumbar spondylosis at the disk level from L1/2 to L5/S1 in Japanese post-menopausal women. ER and VDR RFLP haplotypes were associated with the severity of spondylosis in the upper levels (L1/2 and L2/3) more than in the lower levels. Association of ER genotype was more pronounced in the group younger than average than in the older group, while that of VDR genotype was more significant in the older group. Neither PTH nor IL1-β RFLP was associated with the severity at any levels in either stratified group. We thus conclude that ER and VDR genes may contribute to lumbar spondylosis in a distinct manner: estrogen sensitivity influences the severity in the early phase after menopause while vitamin D plays an important role at older ages when the contribution of estrogen loss is weaker.

Ala-Kokko L, Baldwin CT, Moskowitz RW, Prockop DJ (1990) Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia. Proc Natl Acad Sci USA 87:6565–6568PubMedCrossRef

Albagha OM, McGuigan FE, Reid DM, Ralston SH (2001) Estrogen receptor alpha gene polymorphisms and bone mineral density: haplotype analysis in women from the United Kingdom. J Bone Miner Res 16:128–134PubMedCrossRef

Battie MC, Videman T, Gibbons LE (1995) Determinants of lumbar disc degeneration. A study relating lifetime exposures and magnetic resonance imaging findings in identical twins. Spine 20:2601–2612PubMedCrossRef

Bergink AP, van Meurs JB, Loughlin J (2003) Estrogen receptor alpha gene haplotype is associated with radiographic osteoarthritis of the knee in elderly men and women. Arthritis Rheum 48:1913–1922CrossRefPubMed

Cattabriga M, Rotundo R, Muzzi L (2001) Retrospective evaluation of the influence of the interleukin-1 genotype on radiographic bone levels in treated periodontal patients over 10 years. J Periodontol 72:767–773CrossRefPubMed

Doherty M (2001) Risk factors for progression of knee osteoarthritis. Lancet 358:775–776CrossRefPubMed

Eisman JA (1995) Vitamin D receptor gene alleles and osteoporosis: an affirmative view. J Bone Miner Res 10:1289–1293PubMed

Felson DT, Couropmitree NN, Chaisson CE (1998) Evidence for a Mendelian gene in a segregation analysis of generalized radiographic osteoarthritis: the Framingham Study. Arthritis Rheum 41:1064–1071CrossRefPubMed

Gokhale JA, Frenkel SR, Dicesare PE (2004) Estrogen and osteoarthritis. Am J Orthop 33:71–80PubMed

10.

Gong G, Johnson ML, Barger-Lux MJ, Heaney RP (1999) Association of bone dimensions with a parathyroid hormone gene polymorphism in women. Osteoporos Int 9:307–311CrossRefPubMed

11.

Hardy GH (1908) Mendelian proportions in a mixed population. Science 28:49–50CrossRefPubMed

12.

Harris SS, Eccleshall TR, Gross C, Dawson-Hughes B, Feldman D (1997) The vitamin D receptor start codon polymorphism (FokI) and bone mineral density in premenopausal American black and white women. J Bone Miner Res 12:1043–1048PubMedCrossRef

13.

Hill WG (1974) Estimation of linkage disequilibrium in randomly mating populations. Heredity 33:229–239PubMed

14.

Hirsch R, Lethbridge-Cejku M, Hanson R (1998) Familial aggregation of osteoarthritis: data from the Baltimore longitudinal study on aging. Arthritis Rheum 41:1227–1232CrossRefPubMed

15.

Hosoi T, Miyao M, Inoue S (1999) Association study of parathyroid hormone gene polymorphism and bone mineral density in Japanese postmenopausal women. Calcif Tissue Int 64:205–208CrossRefPubMed

16.

Keen RW, Hart DJ, Lanchbury JS, Spector TD (1997) Association of early osteoarthritis of the knee with a Taq I polymorphism of the vitamin D receptor gene. Arthritis Rheum 40:1444–1449PubMed

17.

Kellgren JH, Lawrence JS (1957) Radiological assessment of osteoarthritis. Ann Rheum Dis 16: 494–501PubMed

18.

Knowlton RG, Katzenstein PL, Moskowitz RW (1990) Genetic linkage of a polymorphism in the type II procollagen gene (COL2A1) to primary osteoarthritis associated with mild chondrodysplasia. N Engl J Med 322:526–530PubMedCrossRef

19.

Kobayashi S, Inoue S, Hosoi T, Ouchi Y, Shiraki M, Orimo H (1996) Association of bone mineral density with polymorphism of the estrogen receptor gene. J Bone Miner Res 11:306–311PubMedCrossRef

20.

Lau EM, Young RP, Lam V, Li M, Woo J (2001) Estrogen receptor gene polymorphism and bone mineral density in postmenopausal Chinese women. Bone 29:96–98CrossRefPubMed

21.

Mollenhauer JA, Erdmann S (2002) Molecular and biomechanical basis of osteoarthritis. Cell Mol Life Sci 59:3–4CrossRefPubMed

22.

Morrison NA, Qi JC, Tokita A (1994) Prediction of bone density by vitamin D receptor alleles. Nature 367:284–287CrossRefPubMed

23.

Muraki S, Yamamoto S, Ishibashi H, Horiuchi T, Hosoi T, Orimo H, Nakamura K (2004) Impact of degenerative spinal diseases on bone mineral density of the lumbar spine in elderly women. Osteoporos Int 15:724–728CrossRefPubMed

24.

Radin EL (1976) Mechanical aspects of osteoarthritis. Bull Rheum Dis 26:862–865PubMed

25.

Richette P, Corvol M, Bardin T (2003) Estrogens, cartilage, and osteoarthritis. J Bone Spine 70:257–262CrossRef

26.

Richmond RS, Carlson CS, Register TC (2000) Functional estrogen receptors in adult articular cartilage: estrogen replacement therapy increases chondrocyte synthesis of proteoglycans and insulin-like growth factor binding protein 2. Arthritis Rheum 43:2081–2090CrossRefPubMed

27.

Sambrook PN, MacGregor AJ, Spector TD (1994) Genetic influences on cervical and lumbar disc degeneration: a magnetic resonance imaging study in twins. Arthritis Rheum 42:366–372CrossRef

28.

Shiraki M, Shiraki Y, Aoki C, Hosoi T, Inoue S, Kaneki M, Ouchi Y (1997) Association of bone mineral density with apolipoprotein E phenotype. J Bone Miner Res 12:1438–1445PubMedCrossRef

29.

Silver A, Boultwood J, Breckon G (1989) Interleukin-1 beta gene deregulation associated with chromosomal rearrangement: a candidate initiating event for murine radiation-myeloid leukemogenesis. Mol Carcinog 2:226–232PubMed

30.

Spector TD, Cicuttini F, Baker J (1996) Genetic influences on osteoarthritis in women: a twin study. Br Med J 312:940–943

31.

Tetlow LC, Woolley DE (2001) Expression of vitamin D receptors and matrix metalloproteinases in osteoarthritic cartilage and human articular chondrocytes in vitro. Osteoarthritis Cartilage 9:423–431CrossRefPubMed

32.

Thompson EA, Deeb S, Walker D, Motulsky AG (1998) The detection of linkage disequilibrium between closely linked markers: RFLPs at the AI-CIII apolipoprotein genes. Am J Hum Genet 42:113–124

33.

Uitterlinden AG, Burger H, Huang QJ Odding E, Duijn CM, Hofman A, Birkenhager JC, van Leeuwen JP, Pols HA (1997) Vitamin D receptor genotype is associated with radiographic osteoarthritis at the knee. J Clin Invest 100:259–263PubMedCrossRef

34.

Ushiyama T, Ueyama H, Inoue K Nishioka J, Ohkubo I, Hukuda S. (1998) Estrogen receptor gene polymorphism and generalized osteoarthritis. J Rheumatol 25:134–137PubMed

35.

Ushiyama T, Ueyama H, Inoue K, Ohkubo I, Hukuda S (1999) Expression of genes for estrogen receptors alpha and beta in human articular chondrocytes. Osteoarthritis Cartilage 7:560–566CrossRefPubMed

36.

Videman T, Gibbons LE, Battie MC, Maravilla K, Vanninen E, Leppavuori J, Kaprio J, Peltonen L (2001) The relative roles of intragenic polymorphisms of the vitamin D receptor gene in lumbar spine degeneration and bone density. Spine 26:E7–12CrossRefPubMed

37.

Yamada Y, Okuizumi H, Miyauchi A, Takagi Y, Ikeda K, Harada A (2000) Association of transforming growth factor beta1 genotype with spinal osteophytosis in Japanese women. Arthritis Rheum 43:452–460CrossRefPubMed

38.

Yoshimura N, Dennison E, Wilman C, Hashimoto T, Cooper C (2000) Epidemiology of chronic disc degeneration and osteoarthritis of the lumbar spine in Britain and Japan: a comparative study. J Rheumatol 27:429–433PubMed

Title: Distinct association of gene polymorphisms of estrogen receptor and vitamin D receptor with lumbar spondylosis in post-menopausal women
Authors: Yu Koshizuka
Naoshi Ogata
Masataka Shiraki
Takayuki Hosoi
Atsushi Seichi
Katsushi Takeshita
Kozo Nakamura
Hiroshi Kawaguchi
Publication date: 01-10-2006
Publisher: Springer-Verlag
Published in: European Spine Journal / Issue 10/2006
Print ISSN: 0940-6719
Electronic ISSN: 1432-0932
DOI: https://doi.org/10.1007/s00586-005-0005-8

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Distinct association of gene polymorphisms of estrogen receptor and vitamin D receptor with lumbar spondylosis in post-menopausal women

Abstract

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Abstract

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