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Gene polymorphic analysis in girls with idiopathic scoliosis

Research Project

Project/Area Number 13470300
Research Category

Grant-in-Aid for Scientific Research (B)

Allocation TypeSingle-year Grants
Section一般
Research Field Orthopaedic surgery
Research InstitutionCHIBA UNIVERSITY

Principal Investigator

MINAMI Shohei  Chiba University, Graduate school of medicine, Associate professor, 大学院・医学研究院, 助教授 (20166086)

Co-Investigator(Kenkyū-buntansha) YAMAZAKI Masasi  Chiba University, University hospital, Assistant, 医学部付属病院, 助手 (50281712)
Project Period (FY) 2001 – 2002
Project Status Completed (Fiscal Year 2002)
Budget Amount *help
¥3,900,000 (Direct Cost: ¥3,900,000)
Fiscal Year 2002: ¥1,700,000 (Direct Cost: ¥1,700,000)
Fiscal Year 2001: ¥2,200,000 (Direct Cost: ¥2,200,000)
Keywordsidiopathic scoliosis / gene polymorphic analysis / estrogen receptor / vitamin D receptor / Cobb angle / 特発性側弯症
Research Abstract

Many studies have suggested that idiopathicscoliosis is a familial condition, and curve progression was also related to the genetic factors, such as skeletal growth and menarche.
Recently, associations between skeletal growth and genes including estrogen receptor (ER) gene and vitamin D receptor (VDR) gene, and CYP17 gene, were reported. The aim of this study was to determine whether DNA polymorphisms in the ER, VDR, and CYP17 gene are related to the pathogenesis of adolescent idiopathic scoliosis. Three hundred and four girls with adolescent idiopathic scoliosis were followed. Height, arm span, the time of growth maturation, Risser's sign, and menarcheal age were recorded, and the curve severity was measured using Cobb's method. Pvu II and Xba I site polymorphism in the ER gene, Apa I, Fok I, and Taq I site polymorphism in the VDR gene, and Msp AI site polymorphism in the CYP17 gene were selected. Individual lymphocyte DNAs were extracted from peripheral blood, and each gene, which contain polymorphic site was amplified by polymerase chain reaction (PCR). The Cobb's curve angle with genotype XX and Xx was statistically greater than that with genotype xx. The curve progression risk ( 30 or 40 degrees) was higher for genotype XX and Xx than for genotype xx. Furthermore, patients with genotype XX and Xx had a higher risk of receiving operative treatment than those with genotype xx.
The results suggested that Xba I site polymorphism in the ER gene was associated with curve progression. Furthermore, Xba I site polymorphism-was also related to the time of growth maturation. On the other hand, other polymorphisms in the VDR gene and CYP17 gene were not associated with curve severity. DNA polymorphic analysis may predict curve progression.

Report

(3 results)
  • 2002 Annual Research Report   Final Research Report Summary
  • 2001 Annual Research Report
  • Research Products

    (29 results)

All Other

All Publications (29 results)

  • [Publications] Inoue M, Minami S, et al.: "Association between estrogen receptor gene polymorphism and curve severity of idiopathic scoliosis"Spine. 27. 2357-2362 (2002)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Bjure J, Grimby G, Nachemson A: "Correction of body height in .predicting spirometric values in scoiiotic patients. Scand."J. Clin. Lab. Invest. 21: 190 (1968)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Carey AH, Waterworth D, Patel K, et al: "Polycystic ovaries and premature male pattern baldness are associated with one allele of the steroid metabolism gene CYP17."Human Mol. Genet.. 10 : 1873 (1994)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Cowell HR, Hall JN, MacEwen GD: "Genetic aspects of idiopathic scoliosis."Clin. Orthop.. 86 : 121 (1972)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Dickson RA, Lawton JO, Butt WP: "The pathogenesis of idiopathic scoliosis."Management of spinal deformities, Butterworths, London. 1 (1984)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Drummond DS, Rogala EJ: "Growth and maturation of adolescents with idiopathic scoliosis"Spine. 5 : 507 (1980)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Feigelson HS, Coetzee GA, Kolonel LN, et al: "A polymorphism in the CYP17 gene increase the risk of breast cancer"Cancer Res.. 57 : 1063 (1997)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Inoue M, Minami S, Kitahara H et al: "Idiopathic scoliosis in twins using DNA fingerprints"J. Bone Joint Surg.. 76B : 186 (1998)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Inoue M, Minami S, Nakata Y, et al: "Association between estrogen receptor gene polymorphism and curve severity of idiopathic scoliosis"Spine. 27 : 2357 (2002)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Kesling KL Reinker KA: "Scoliosis in twins : a meta-analysis of the literature and report of six cases"Spine. 22 : 2009 (1998)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Kitagawa I, Kitagawa Y, Kawase Y, et al: "Advanced onset of menarche and higher bone mineral density depending on vitamin D receptor gene polymorphism"Eur. J. Endocrinol.. 139 : 522 (1998)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Kobayashi S, Inoue S, Hosoi T, et al: "Association of bone mineral density with polymorphism of the estrogen receptor gene"J. Bone Miner. Res.. 11 : 306 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Komm BS, Terpening CM, Benz DJ, et al: "Estrogen binding, receptor mRNA, and biologic response in osteoblast-like osteosarcoma cells"Science. 241 : 81 (1988)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Lonstein JE, Carlson M: "The prediction of curve progression in untreated idiopathic scoliosis during growth"J. Bone Joint Surg.. 66A : 1061 (1984)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Lowe TG, Edgar M, Margulies JY, et al: "Etiology of idiopathic scoliosis : Current trends in research"J. Bone Joint Surg.. S2A : 1157 (2000)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Minamitani K, Takahashi Y, Minagawa M, et al: "Diffrences in height associated with a translation start site polymorphism in the vitamin D receptor gene"Pediatr. Res.. 44 : 628 (1998)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Mizunuma H, Hosoi T, Okano H, et al: "Estrogen receptor gene polymorphism and bone mineral density at the lumbar spine of pre-and postmenopausal woman"Bone. 21 : 379 (1997)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Morrison NA, Qi JC, Tokita A, et al: "Prediction of bone density from vitamin D receptor alleles"Nature. 367 : 284 (1994)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Pensler JM, Radosevich JA, Higbee R, et al: "Osteoclasts isolated from membranous bone in children exhibited nuclear estrogen and progesterone receptors"J. Bone Miner. Res.. 5 : 797 (1990)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Smith EP, Boyd 3, Frank GR, et al: "Estrogen resistance caused by a mutation in the estrogen-receptor gene in a man"N. Engl. J. Med.. 331 : 1056 (1994)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Suarez F, Rossignol C, Garabedian M, et al: "Interactive effect of estradiol and vitamin D receptor gene polymorphism as a possible determinant of growth in male and female infants"J. Clin. Endocrinol. Metab.. 10 : 3563 (1998)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Tao C, Yu T, Garnett S, et al: "Vitamin D receptor alleles predict growth and bone density in girls"Arch. Dis. Child. 79 : 488 (1998)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Tokita A, Matsumoto H, Morrison NA, et al: "Vitamin D receptor alleles bone density and turnover in premenopausal Japanese women"J. Bone Miner. Res.. 11 : 1003 (1996)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Ushiyama T, Mori K, Inoue K, et al: "Association of oestrogen receptor gene polymorphisms with age at onset of rheumatoid arthritis"Ann. Rheum. Dis.. 58 : 7 (1999)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Videman T, Leppavuori J, Kaprio J, et al: "Intragenic polymorphisms of the vitamin D receptor gene associated with intervertebral disc degeneration"Spine. 23 : 2477 (1998)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Willner S: "Growth and height of the children with scoliosis"Acta Orthop. Scand.. 46 : 71 (1975)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Wynne-Davies R: "Familial (idiopathic) scoliosis"J. Bone Joint Surg.. 50B : 24 (1968)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Yoshizawa T, Handa Y, Uemasu Y, et al.: "Mice lacking vitamin D receptor exhibit impaired bone formation, uterine hypoplasia and growth retardation after weaning"Nat. Genet.. 16 : 391 (1997)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      2002 Final Research Report Summary
  • [Publications] Inoue M, Minami S, et al.: "Association between estrogen receptor gene polymorphism and curve severity of idiopathic scoliosis"Spine. 27. 2357-2362 (2002)

    • Related Report
      2002 Annual Research Report

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Published: 2001-04-01   Modified: 2016-04-21  

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