메뉴 건너뛰기




Volumn 8, Issue 9, 2013, Pages

Identification of a Susceptibility Locus for Severe Adolescent Idiopathic Scoliosis on Chromosome 17q24.3

(31)  Miyake, Atsushi a,b   Kou, Ikuyo a   Takahashi, Yohei a,b   Johnson, Todd A c   Ogura, Yoji a,b   Dai, Jin d   Qiu, Xusheng d   Takahashi, Atsushi a   Jiang, Hua d   Yan, Huang d   Kono, Katsuki e   Kawakami, Noriaki f   Uno, Koki g   Ito, Manabu h   Minami, Shohei i   Yanagida, Haruhisa j   Taneichi, Hiroshi k   Hosono, Naoya c   Tsuji, Taichi f   Suzuki, Teppei g   more..

a RIKEN   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR2.1; TRANSCRIPTION FACTOR SOX9;

EID: 84883357224     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0072802     Document Type: Article
Times cited : (54)

References (41)
  • 1
    • 0033572221 scopus 로고    scopus 로고
    • Natural history
    • Weinstein SL, (1999) Natural history. Spine 24: 2592-2600.
    • (1999) Spine , vol.24 , pp. 2592-2600
    • Weinstein, S.L.1
  • 2
    • 0024267432 scopus 로고
    • School screening for scoliosis by the Chiba University Medical School screening program. Results of 1.24 million students over an 8-year period
    • Ohtsuka Y, Yamagata M, Arai S, Kitahara H, Minami S, (1988) School screening for scoliosis by the Chiba University Medical School screening program. Results of 1.24 million students over an 8-year period. Spine 13: 1251-1257.
    • (1988) Spine , vol.13 , pp. 1251-1257
    • Ohtsuka, Y.1    Yamagata, M.2    Arai, S.3    Kitahara, H.4    Minami, S.5
  • 3
    • 41549129915 scopus 로고    scopus 로고
    • Understanding genetic factors in idiopathic scoliosis, a complex disease of childhood
    • Wise CA, Gao X, Shoemaker S, Gordon D, Herring JA, (2008) Understanding genetic factors in idiopathic scoliosis, a complex disease of childhood. Curr Genomics 9: 51-59.
    • (2008) Curr Genomics , vol.9 , pp. 51-59
    • Wise, C.A.1    Gao, X.2    Shoemaker, S.3    Gordon, D.4    Herring, J.A.5
  • 5
    • 0031417826 scopus 로고    scopus 로고
    • Scoliosis in twins. A meta-analysis of the literature and report of six cases
    • Kesling KL, Reinker KA, (1997) Scoliosis in twins. A meta-analysis of the literature and report of six cases. Spine 22: 2009-2014.
    • (1997) Spine , vol.22 , pp. 2009-2014
    • Kesling, K.L.1    Reinker, K.A.2
  • 6
    • 34247252500 scopus 로고    scopus 로고
    • Adolescent idiopathic scoliosis in twins: a population-based survey
    • Andersen MO, Thomsen K, Kyvik KO, (2007) Adolescent idiopathic scoliosis in twins: a population-based survey. Spine 32: 927-930.
    • (2007) Spine , vol.32 , pp. 927-930
    • Andersen, M.O.1    Thomsen, K.2    Kyvik, K.O.3
  • 7
    • 0034665178 scopus 로고    scopus 로고
    • Localization of susceptibility to familial idiopathic scoliosis
    • Wise CA, Barnes R, Gillum J, Herring JA, Bowcock AM, et al. (2000) Localization of susceptibility to familial idiopathic scoliosis. Spine 25: 2372-2380.
    • (2000) Spine , vol.25 , pp. 2372-2380
    • Wise, C.A.1    Barnes, R.2    Gillum, J.3    Herring, J.A.4    Bowcock, A.M.5
  • 8
    • 39149127931 scopus 로고    scopus 로고
    • Assignment of two loci for autosomal dominant adolescent idiopathic scoliosis to chromosomes 9q31.2 and 17q25.3-qtel
    • Ocaka L, Zhao C, Reed JA, Ebenezer ND, Brice G, et al. (2008) Assignment of two loci for autosomal dominant adolescent idiopathic scoliosis to chromosomes 9q31.2 and 17q25.3-qtel. J Med Genet 45: 87-92.
    • (2008) J Med Genet , vol.45 , pp. 87-92
    • Ocaka, L.1    Zhao, C.2    Reed, J.A.3    Ebenezer, N.D.4    Brice, G.5
  • 9
    • 0036821157 scopus 로고    scopus 로고
    • Assignment of a locus for autosomal dominant idiopathic scoliosis (IS) to human chromosome 17p11
    • Salehi LB, Mangino M, De Serio S, De Cicco D, Capon F, et al. (2002) Assignment of a locus for autosomal dominant idiopathic scoliosis (IS) to human chromosome 17p11. Hum Genet 111: 401-404.
    • (2002) Hum Genet , vol.111 , pp. 401-404
    • Salehi, L.B.1    Mangino, M.2    De Serio, S.3    De Cicco, D.4    Capon, F.5
  • 10
    • 33746082399 scopus 로고    scopus 로고
    • Idiopathic scoliosis: identification of candidate regions on chromosome 19p13
    • Alden KJ, Marosy B, Nzegwu N, Justice CM, Wilson AF, et al. (2006) Idiopathic scoliosis: identification of candidate regions on chromosome 19p13. Spine 31: 1815-1819.
    • (2006) Spine , vol.31 , pp. 1815-1819
    • Alden, K.J.1    Marosy, B.2    Nzegwu, N.3    Justice, C.M.4    Wilson, A.F.5
  • 11
    • 0036074126 scopus 로고    scopus 로고
    • A genetic locus for adolescent idiopathic scoliosis linked to chromosome 19p13.3
    • Chan V, Fong GC, Luk KD, Yip B, Lee MK, et al. (2002) A genetic locus for adolescent idiopathic scoliosis linked to chromosome 19p13.3. Am J Hum Genet 71: 401-406.
    • (2002) Am J Hum Genet , vol.71 , pp. 401-406
    • Chan, V.1    Fong, G.C.2    Luk, K.D.3    Yip, B.4    Lee, M.K.5
  • 12
    • 0037444167 scopus 로고    scopus 로고
    • Familial idiopathic scoliosis: evidence of an X-linked susceptibility locus
    • Justice CM, Miller NH, Marosy B, Zhang J, Wilson AF, (2003) Familial idiopathic scoliosis: evidence of an X-linked susceptibility locus. Spine 28: 589-594.
    • (2003) Spine , vol.28 , pp. 589-594
    • Justice, C.M.1    Miller, N.H.2    Marosy, B.3    Zhang, J.4    Wilson, A.F.5
  • 13
    • 34247584973 scopus 로고    scopus 로고
    • CHD7 gene polymorphisms are associated with susceptibility to idiopathic scoliosis
    • Gao X, Gordon D, Zhang D, Browne R, Helms C, et al. (2007) CHD7 gene polymorphisms are associated with susceptibility to idiopathic scoliosis. Am J Hum Genet 80: 957-965.
    • (2007) Am J Hum Genet , vol.80 , pp. 957-965
    • Gao, X.1    Gordon, D.2    Zhang, D.3    Browne, R.4    Helms, C.5
  • 14
  • 15
    • 64049095119 scopus 로고    scopus 로고
    • Genetic linkage localizes an adolescent idiopathic scoliosis and pectus excavatum gene to chromosome 18q
    • Gurnett CA, Alaee F, Bowcock A, Kruse L, Lenke LG, et al. (2009) Genetic linkage localizes an adolescent idiopathic scoliosis and pectus excavatum gene to chromosome 18q. Spine 34: E94-E100.
    • (2009) Spine , vol.34
    • Gurnett, C.A.1    Alaee, F.2    Bowcock, A.3    Kruse, L.4    Lenke, L.G.5
  • 16
    • 18844369625 scopus 로고    scopus 로고
    • Identification of candidate regions for familial idiopathic scoliosis
    • Miller NH, Justice CM, Marosy B, Doheny KF, Pugh E, et al. (2005) Identification of candidate regions for familial idiopathic scoliosis. Spine 30: 1181-1187.
    • (2005) Spine , vol.30 , pp. 1181-1187
    • Miller, N.H.1    Justice, C.M.2    Marosy, B.3    Doheny, K.F.4    Pugh, E.5
  • 17
    • 33646547941 scopus 로고    scopus 로고
    • Association of estrogen receptor gene polymorphisms with susceptibility to adolescent idiopathic scoliosis
    • Wu J, Qiu Y, Zhang L, Sun Q, Qiu X, et al. (2006) Association of estrogen receptor gene polymorphisms with susceptibility to adolescent idiopathic scoliosis. Spine 31: 1131-1136.
    • (2006) Spine , vol.31 , pp. 1131-1136
    • Wu, J.1    Qiu, Y.2    Zhang, L.3    Sun, Q.4    Qiu, X.5
  • 18
    • 67650433779 scopus 로고    scopus 로고
    • Association of estrogen receptor beta gene polymorphisms with susceptibility to adolescent idiopathic scoliosis
    • Zhang HQ, Lu SJ, Tang MX, Chen LQ, Liu SH, et al. (2009) Association of estrogen receptor beta gene polymorphisms with susceptibility to adolescent idiopathic scoliosis. Spine 34: 760-764.
    • (2009) Spine , vol.34 , pp. 760-764
    • Zhang, H.Q.1    Lu, S.J.2    Tang, M.X.3    Chen, L.Q.4    Liu, S.H.5
  • 19
    • 62949229424 scopus 로고    scopus 로고
    • Promoter polymorphism of matrilin-1 gene predisposes to adolescent idiopathic scoliosis in a Chinese population
    • Chen Z, Tang NL, Cao X, Qiao D, Yi L, et al. (2009) Promoter polymorphism of matrilin-1 gene predisposes to adolescent idiopathic scoliosis in a Chinese population. Eur J Hum Genet 17: 525-532.
    • (2009) Eur J Hum Genet , vol.17 , pp. 525-532
    • Chen, Z.1    Tang, N.L.2    Cao, X.3    Qiao, D.4    Yi, L.5
  • 20
    • 34447523837 scopus 로고    scopus 로고
    • Melatonin receptor 1B (MTNR1B) gene polymorphism is associated with the occurrence of adolescent idiopathic scoliosis
    • Qiu XS, Tang NL, Yeung HY, Lee KM, Hung VW, et al. (2007) Melatonin receptor 1B (MTNR1B) gene polymorphism is associated with the occurrence of adolescent idiopathic scoliosis. Spine 32: 1748-1753.
    • (2007) Spine , vol.32 , pp. 1748-1753
    • Qiu, X.S.1    Tang, N.L.2    Yeung, H.Y.3    Lee, K.M.4    Hung, V.W.5
  • 21
    • 55449106418 scopus 로고    scopus 로고
    • Association study of tryptophan hydroxylase 1 and arylalkylamine n-acetyltransferase polymorphisms with adolescent idiopathic scoliosis in Han Chinese
    • Wang H, Wu Z, Zhuang Q, Fei Q, Zhang J, et al. (2008) Association study of tryptophan hydroxylase 1 and arylalkylamine n-acetyltransferase polymorphisms with adolescent idiopathic scoliosis in Han Chinese. Spine 33: 2199-2203.
    • (2008) Spine , vol.33 , pp. 2199-2203
    • Wang, H.1    Wu, Z.2    Zhuang, Q.3    Fei, Q.4    Zhang, J.5
  • 22
    • 82255179217 scopus 로고    scopus 로고
    • A genome-wide association study identifies common variants near LBX1 associated with adolescent idiopathic scoliosis
    • Takahashi Y, Kou I, Takahashi A, Johnson TA, Kono K, et al. (2011) A genome-wide association study identifies common variants near LBX1 associated with adolescent idiopathic scoliosis. Nat Genet 43: 1237-1240.
    • (2011) Nat Genet , vol.43 , pp. 1237-1240
    • Takahashi, Y.1    Kou, I.2    Takahashi, A.3    Johnson, T.A.4    Kono, K.5
  • 23
    • 84878735692 scopus 로고    scopus 로고
    • Genetic variants in GPR126 are associated with adolescent idiopathic scoliosis
    • Kou I, Takahashi Y, Johnson TA, Takahashi A, Guo L, et al. (2013) Genetic variants in GPR126 are associated with adolescent idiopathic scoliosis. Nat Genet 45: 676-679.
    • (2013) Nat Genet , vol.45 , pp. 676-679
    • Kou, I.1    Takahashi, Y.2    Johnson, T.A.3    Takahashi, A.4    Guo, L.5
  • 24
    • 18744407845 scopus 로고    scopus 로고
    • Functional SNPs in the lymphotoxin-alpha gene that are associated with susceptibility to myocardial infarction
    • Ozaki K, Ohnishi Y, Iida A, Sekine A, Yamada R, et al. (2002) Functional SNPs in the lymphotoxin-alpha gene that are associated with susceptibility to myocardial infarction. Nat Genet 32: 650-654.
    • (2002) Nat Genet , vol.32 , pp. 650-654
    • Ozaki, K.1    Ohnishi, Y.2    Iida, A.3    Sekine, A.4    Yamada, R.5
  • 25
    • 84969213492 scopus 로고    scopus 로고
    • Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls
    • Wellcome Trust Case Control Consortium
    • Wellcome Trust Case Control Consortium, (2007) Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 447: 661-678.
    • (2007) Nature , vol.447 , pp. 661-678
  • 26
    • 42349112088 scopus 로고    scopus 로고
    • Genome-wide association studies for complex traits: consensus, uncertainty and challenges
    • McCarthy MI, Abecasis GR, Cardon LR, Goldstein DB, Little J, et al. (2008) Genome-wide association studies for complex traits: consensus, uncertainty and challenges. Nat Rev Genet 9: 356-369.
    • (2008) Nat Rev Genet , vol.9 , pp. 356-369
    • McCarthy, M.I.1    Abecasis, G.R.2    Cardon, L.R.3    Goldstein, D.B.4    Little, J.5
  • 28
    • 0021169797 scopus 로고
    • The prediction of curve progression in untreated idiopathic scoliosis during growth
    • Lonstein JE, Carlson M, (1984) The prediction of curve progression in untreated idiopathic scoliosis during growth. J Bone Joint Surg Am 66: 1061-1071.
    • (1984) J Bone Joint Surg Am , vol.66 , pp. 1061-1071
    • Lonstein, J.E.1    Carlson, M.2
  • 29
    • 34548455888 scopus 로고    scopus 로고
    • Genetic association study of insulin-like growth factor-I (IGF-I) gene with curve severity and osteopenia in adolescent idiopathic scoliosis
    • Yeung HY, Tang NL, Lee KM, Ng BK, Hung VW, et al. (2006) Genetic association study of insulin-like growth factor-I (IGF-I) gene with curve severity and osteopenia in adolescent idiopathic scoliosis. Stud Health Technol Inform 123: 18-24.
    • (2006) Stud Health Technol Inform , vol.123 , pp. 18-24
    • Yeung, H.Y.1    Tang, N.L.2    Lee, K.M.3    Ng, B.K.4    Hung, V.W.5
  • 30
    • 79955479796 scopus 로고    scopus 로고
    • A genome-wide association study identifies three loci associated with susceptibility to uterine fibroids
    • Cha PC, Takahashi A, Hosono N, Low SK, Kamatani N, et al. (2011) A genome-wide association study identifies three loci associated with susceptibility to uterine fibroids. Nat Genet 43: 447-450.
    • (2011) Nat Genet , vol.43 , pp. 447-450
    • Cha, P.C.1    Takahashi, A.2    Hosono, N.3    Low, S.K.4    Kamatani, N.5
  • 31
    • 0034885541 scopus 로고    scopus 로고
    • A high-throughput SNP typing system for genome-wide association studies
    • Ohnishi Y, Tanaka T, Ozaki K, Yamada R, Suzuki H, et al. (2001) A high-throughput SNP typing system for genome-wide association studies. J Hum Genet 46: 471-477.
    • (2001) J Hum Genet , vol.46 , pp. 471-477
    • Ohnishi, Y.1    Tanaka, T.2    Ozaki, K.3    Yamada, R.4    Suzuki, H.5
  • 32
    • 34547510624 scopus 로고    scopus 로고
    • Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes
    • Gudmundsson J, Sulem P, Steinthorsdottir V, Bergthorsson JT, Thorleifsson G, et al. (2007) Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes. Nat Genet 39: 977-983.
    • (2007) Nat Genet , vol.39 , pp. 977-983
    • Gudmundsson, J.1    Sulem, P.2    Steinthorsdottir, V.3    Bergthorsson, J.T.4    Thorleifsson, G.5
  • 33
    • 84863254029 scopus 로고    scopus 로고
    • Sox9 directs hypertrophic maturation and blocks osteoblast differentiation of growth plate chondrocytes
    • Dy P, Wang W, Bhattaram P, Wang Q, Wang L, et al. (2012) Sox9 directs hypertrophic maturation and blocks osteoblast differentiation of growth plate chondrocytes. Dev Cell 22: 597-609.
    • (2012) Dev Cell , vol.22 , pp. 597-609
    • Dy, P.1    Wang, W.2    Bhattaram, P.3    Wang, Q.4    Wang, L.5
  • 34
    • 33748147840 scopus 로고    scopus 로고
    • Congenital cervical instability in a patient with camptomelic dysplasia
    • Lekovic GP, Rekate HL, Dickman CA, Pearson M, (2006) Congenital cervical instability in a patient with camptomelic dysplasia. Childs Nerv Syst 22: 1212-1214.
    • (2006) Childs Nerv Syst , vol.22 , pp. 1212-1214
    • Lekovic, G.P.1    Rekate, H.L.2    Dickman, C.A.3    Pearson, M.4
  • 36
    • 70349705754 scopus 로고    scopus 로고
    • Long-range regulation at the SOX9 locus in development and disease
    • Gordon CT, Tan TY, Benko S, Fitzpatrick D, Lyonnet S, et al. (2009) Long-range regulation at the SOX9 locus in development and disease. J Med Genet 46: 649-656.
    • (2009) J Med Genet , vol.46 , pp. 649-656
    • Gordon, C.T.1    Tan, T.Y.2    Benko, S.3    Fitzpatrick, D.4    Lyonnet, S.5
  • 37
    • 84864624041 scopus 로고    scopus 로고
    • Integrative functional genomics identifies an enhancer looping to the SOX9 gene disrupted by the 17q24.3 prostate cancer risk locus
    • Zhang X, Cowper-Sallari R, Bailey SD, Moore JH, Lupien M, (2012) Integrative functional genomics identifies an enhancer looping to the SOX9 gene disrupted by the 17q24.3 prostate cancer risk locus. Genome Res 22: 1437-1446.
    • (2012) Genome Res , vol.22 , pp. 1437-1446
    • Zhang, X.1    Cowper-Sallari, R.2    Bailey, S.D.3    Moore, J.H.4    Lupien, M.5
  • 38
    • 77955579010 scopus 로고    scopus 로고
    • Kir 2.1 channelopathies: the Andersen-Tawil syndrome
    • Tristani-Firouzi M, Etheridge SP, (2010) Kir 2.1 channelopathies: the Andersen-Tawil syndrome. Pflugers Arch 460: 289-294.
    • (2010) Pflugers Arch , vol.460 , pp. 289-294
    • Tristani-Firouzi, M.1    Etheridge, S.P.2
  • 39
    • 0035907032 scopus 로고    scopus 로고
    • Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome
    • Plaster NM, Tawil R, Tristani-Firouzi M, Canun S, Bendahhou S, et al. (2001) Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. Cell 105: 511-519.
    • (2001) Cell , vol.105 , pp. 511-519
    • Plaster, N.M.1    Tawil, R.2    Tristani-Firouzi, M.3    Canun, S.4    Bendahhou, S.5
  • 40
    • 84869888708 scopus 로고    scopus 로고
    • Delineating the 17q24.2-q24.3 microdeletion syndrome phenotype
    • Lestner JM, Ellis R, Canham N, (2012) Delineating the 17q24.2-q24.3 microdeletion syndrome phenotype. Eur J Med Genet 55: 700-704.
    • (2012) Eur J Med Genet , vol.55 , pp. 700-704
    • Lestner, J.M.1    Ellis, R.2    Canham, N.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.