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Objective: To investigate whether single nucleotide polymorphisms (SNP) of the calmodulin1 (CALM1) and estrogen receptor-α genes correlate with double curve in adolescent idiopathic scoliosis (AIS).

Methods: A total of 67 Chinese patients with AIS with double curve and 100 healthy controls were recruited. Curve pattern and Cobb angle of each patient were recorded. The Cobb angle is at least 30°. There were 60 patients with Cobb angle ≥ 40°. According to the apical location of the major curve, there were 40 thoracic curve patients. Four polymorphic loci, including rs12885713 (-16C > T) and rs5871 in the CALM1 gene and rs2234693 (Pvu II) and rs9340799 (Xba I) in the estrogen receptor 1 (ER1) gene were analyzed by the ABI3730 genetic analyzer.

Results: The current study indicates that: (i) there are statistical differences between patients with double curve, with Cobb angle ≥ 40° and with thoracic curve and healthy controls in the polymorphic distribution of the rs2234693 site of the ER1 gene, (P= 0.014, 0.0128, 0.0184 respectively); (ii) there is a difference between patients with double curve and controls in the polymorphic distribution of the rs12885713 site in the CALM1 gene (P= 0.034); and (iii) there is a difference between thoracic curve patients and controls in the polymorphic distribution of the rs5871 site in the CALM1 gene (P= 0.0102).

Conclusions: Different subtypes of AIS might be related to different SNP. A combination of CALM1 and ER1 gene polymorphisms might be related to double curve in patients with AIS. Further study is necessary to confirm these hypotheses.

Titel:	Association between adolescent idiopathic scoliosis with double curve and polymorphisms of calmodulin1 gene/estrogen receptor-α gene.
Autor/in / Beteiligte Person:	Zhao, D ; Qiu, GX ; Wang, YP ; Zhang, JG ; Shen, JX ; Wu, ZH
Link:	Full Text Finder (Volltext)
Zeitschrift:	Orthopaedic surgery, Jg. 1 (2009-08-01), Heft 3, S. 222-30
Veröffentlichung:	2013- : Richmond, Vic. Wiley on behalf of the Chinese Orthopedic Association ; <i>Original Publication</i>: Richmond, Vic. : Tianjin : Blackwell Pub. Asia ; Tianjin Hospital, 2009-, 2009
Medientyp:	academicJournal
ISSN:	1757-7861 (electronic)
DOI:	10.1111/j.1757-7861.2009.00038.x
Schlagwort:	Adolescent Alleles Calmodulin metabolism Child Estrogen Receptor alpha metabolism Follow-Up Studies Genotype Humans Magnetic Resonance Imaging Male Polymerase Chain Reaction Retrospective Studies Scoliosis diagnosis Scoliosis metabolism Young Adult Calmodulin genetics DNA genetics Estrogen Receptor alpha genetics Genetic Predisposition to Disease Polymorphism, Genetic Scoliosis genetics
Sonstiges:	Nachgewiesen in: MEDLINE Sprachen: English Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't Language: English [Orthop Surg] 2009 Aug; Vol. 1 (3), pp. 222-30. MeSH Terms: Genetic Predisposition to Disease* ; Polymorphism, Genetic* ; Calmodulin / genetics ; DNA / genetics ; Estrogen Receptor alpha / genetics ; Scoliosis / genetics ; Adolescent ; Alleles ; Calmodulin / metabolism ; Child ; Estrogen Receptor alpha / metabolism ; Follow-Up Studies ; Genotype ; Humans ; Magnetic Resonance Imaging ; Male ; Polymerase Chain Reaction ; Retrospective Studies ; Scoliosis / diagnosis ; Scoliosis / metabolism ; Young Adult References: Clin Orthop Relat Res. 1977 Jul-Aug;(126):43-6. (PMID: 598138) ; Neurochem Res. 2002 Oct;27(10):957-80. (PMID: 12462398) ; J Bone Joint Surg Br. 1968 Feb;50(1):24-30. (PMID: 5641594) ; Hum Genet. 2002 Oct;111(4-5):401-4. (PMID: 12384783) ; Biochimie. 2002 Aug;84(8):821-37. (PMID: 12457569) ; Nat Genet. 2003 Feb;33(2):177-82. (PMID: 12524541) ; Trends Biochem Sci. 2003 Apr;28(4):182-8. (PMID: 12713901) ; Spine (Phila Pa 1976). 2003 Sep 1;28(17):2025-8; discussion 2029. (PMID: 12973153) ; J Biol Chem. 1983 May 25;258(10):6258-65. (PMID: 6133862) ; Spine (Phila Pa 1976). 1984 Oct;9(7):681-5. (PMID: 6505836) ; J Bone Joint Surg Am. 1973 Jul;55(5):974-82. (PMID: 4760104) ; Br J Psychiatry Suppl. 2001 Apr;40:s12-7. (PMID: 11315218) ; J Med Genet. 1978 Dec;15(6):424-7. (PMID: 745214) ; Arterioscler Thromb Vasc Biol. 1997 Nov;17(11):3006-12. (PMID: 9409287) ; Genome Biol. 2003;4(7):223. (PMID: 12844354) ; Spine (Phila Pa 1976). 2000 Sep 15;25(18):2372-80. (PMID: 10984791) ; Spine (Phila Pa 1976). 1999 Dec 15;24(24):2592-600. (PMID: 10635522) ; Biochem Biophys Res Commun. 1992 May 15;184(3):1432-40. (PMID: 1590802) ; Osteoporos Int. 1990 Oct;1(1):56-60. (PMID: 2133642) ; Science. 1980 Jan 4;207(4426):19-27. (PMID: 6243188) ; Biochem Biophys Res Commun. 1996 Oct 23;227(3):651-7. (PMID: 8885989) ; Hum Genet. 2004 Jun;115(1):81-9. (PMID: 15088139) ; J Mol Med (Berl). 2002 Jul;80(7):452-60. (PMID: 12110951) ; Spine (Phila Pa 1976). 2006 Oct 1;31(21):2463-8. (PMID: 17023856) ; Am J Hum Genet. 2002 Aug;71(2):401-6. (PMID: 12094330) ; Clin Orthop Relat Res. 1972 Jul-Aug;86:121-31. (PMID: 5047777) ; Curr Opin Genet Dev. 2003 Jun;13(3):290-5. (PMID: 12787792) ; Spine (Phila Pa 1976). 2002 Nov 1;27(21):2357-62. (PMID: 12438984) ; Fertil Steril. 2004 Jun;81(6):1650-6. (PMID: 15193490) ; Spine (Phila Pa 1976). 2002 Apr 1;27(7):768-75. (PMID: 11923672) ; Biochem Biophys Res Commun. 1995 Mar 17;208(2):748-55. (PMID: 7695632) ; Hum Mol Genet. 2005 Apr 15;14(8):1009-17. (PMID: 15746150) ; Drug Metab Dispos. 2008 Jan;36(1):10-5. (PMID: 17940136) ; Spine (Phila Pa 1976). 2003 Mar 15;28(6):589-94. (PMID: 12642767) ; Clin Orthop Relat Res. 2002 Aug;(401):60-4. (PMID: 12151883) ; J Bone Miner Res. 1996 Mar;11(3):306-11. (PMID: 8852941) ; J Bone Joint Surg Am. 1994 Aug;76(8):1186-92. (PMID: 8056799) ; Pediatr Rehabil. 2003 Jul-Dec;6(3-4):137-70. (PMID: 14713582) ; Spine (Phila Pa 1976). 2005 May 15;30(10):1181-7. (PMID: 15897833) ; J Bone Joint Surg Am. 2000 Aug;82(8):1157-68. (PMID: 10954107) ; Lancet. 1988 May 21;1(8595):1151-5. (PMID: 2896969) ; Spine (Phila Pa 1976). 2006 May 1;31(10):1131-6. (PMID: 16648749) Substance Nomenclature: 0 (Calmodulin) ; 0 (ESR1 protein, human) ; 0 (Estrogen Receptor alpha) ; 9007-49-2 (DNA) Entry Date(s): Date Created: 20111020 Date Completed: 20120315 Latest Revision: 20211020 Update Code: 20231215 PubMed Central ID: PMC6583290

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Association between adolescent idiopathic scoliosis with double curve and polymorphisms of calmodulin1 gene/estrogen receptor-α gene.