Genetic association of complex traits: Using idiopathic scoliosis as an example

Clinical Orthopaedics and Related Research

Volumn 462, Issue , 2007, Pages 38-44

  Cheng, Jack C Y ^a   Tang, Nelson L S ^a   Yeung, Hiu Yan ^a   Miller, Nancy ^b  

^a CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

^b UNIVERSITY OF COLORADO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AUTOSOMAL DOMINANT INHERITANCE; DISEASE PREDISPOSITION; FAMILIAL DISEASE; GENE; GENE LOCATION; GENE LOCUS; GENE MAPPING; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC LINKAGE; GENETIC TRAIT; GENETIC VARIABILITY; GENOMICS; HAPLOTYPE MAP; HEREDITY; HUMAN; HUMAN GENOME PROJECT; IDIOPATHIC SCOLIOSIS; LINKAGE ANALYSIS; MUTATIONAL ANALYSIS; POPULATION RESEARCH; PRIORITY JOURNAL; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; ADOLESCENT; GENETIC MARKER; GENETIC PREDISPOSITION; GENETICS; NUCLEOTIDE SEQUENCE; SCOLIOSIS;

ADOLESCENT; DNA MUTATIONAL ANALYSIS; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENOMICS; HUMANS; LINKAGE (GENETICS); POLYMORPHISM, SINGLE NUCLEOTIDE; SCOLIOSIS;

EID: 34548428772     PISSN: 0009921X     EISSN: 15281132     Source Type: Journal    
DOI: 10.1097/BLO.0b013e3180d09dcc     Document Type: Review

References (58)

1. Axenovich TI, Zaidman AM, Zorkoltseva IV, Tregubova IL, Borodin PM. Segregation analysis of idiopathic scoliosis: demonstration of a major gene effect. Am J Med Genet. 1999;86:389-394.
2. Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics. 2005;21:263-265.
3. Bunnell WP. The natural history of idiopathic scoliosis before skeletal maturity. Spine. 1986;11:773-776.
4. Burton PR, Tobin MD, Hopper JL. Key concepts in genetic epidemiology. Lancet. 2005;366:941-951.
5. Carlson CS, Eberle MA, Rieder MJ, Yi Q, Kruglyak L, Nickerson DA. Selecting a maximally informative set of single-nucleotide polymorphisms for association analyses using linkage disequilibrium. Am J Hum Genet. 2004;74:106-120.
6. Chan V, Fong GCY, Luk KDK, Yip B, Lee MK, Wong MS, Lu DDS, Chan TK. A genetic locus for adolescent idiopathic scoliosis linked to chromosome 19p13.3. Am J Hum Genet. 2002;71:401-406.
7. Chen JY, Wang CM, Lu SC, Chou YH, Luo SF. Association of apoptosis-related microsatellite polymorphisms on chromosome 1q in Taiwanese systemic lupus erythematosus patients. Clin Exp Immunol. 2006;143:281-287.
8. Cheng JCY, Qin L, Cheung CS, Sher AH, Lee KM, Ng SW, Guo X. Generalized low areal and volumetric bone mineral density in adolescent idiopathic scoliosis. J Bone Miner Res. 2000;15:1587-1595.
9. Cordell HJ, Clayton DG. Genetic association studies. Lancet. 2005;366:1121-1131.
10. Cowell HR, Hall JN, MacEwen GD. Genetic aspects of idiopathic scoliosis. Clin Orthop Relat Res. 1972;86:121-131.
11. Cutting GR. Modifier genetics: cystic fibrosis. Annu Rev Genomics Hum Genet. 2005;6:237-260.
12. Czeizel A, Bellyei A, Barta O, Magda T, Molnar L. Genetics of adolescent idiopathic scoliosis. J Med Genet. 1978;15:424-427.
13. dbSNP summary page. National Center for Biotechnology Information Web site. Available at: http://www.ncbi.nlm.nih.gov/SNP/snp_summary.cgi. Accessed March 17, 2007.
14. Drumm ML, Konstan MW, Schluchter MD, Handler A, Pace R, Zou F, Zariwala M, Fargo D, Xu A, Dunn JM, Darrah RJ, Dorfman R, Sandford AJ, Corey M, Zielenski J, Durie P, Goddard K, Yankaskas JR, Wright FA, Knowles MR. Genetic modifiers of lung disease in cystic fibrosis. N Engl J Med. 2005;353:1443-1453.
15. Houlston RS, Peto J. The search for low-penetrance cancer susceptibility alleles. Oncogene. 2004;23:6471-6476.
16. Hung VW, Qin L, Cheung CS, Lam TP, Ng BK, Tse YK, Guo X, Lee KM, Cheng JC. Osteopenia: a new prognostic factor of curve progression in adolescent idiopathic scoliosis. J Bone Joint Surg Am. 2005;87:2709-2716.
17. Inoue M, Minami S, Kitahara H, Otsuka Y, Nakata Y, Takaso M, Moriya H. Idiopathic scoliosis in twins studied by DNA fingerprinting - the incidence and type of scoliosis. J Bone Joint Surg Br. 1998;80B:212-217.
18. Inoue M, Minami S, Nakata Y, Kitahara H, Otsuka Y, Isobe K, Takaso M, Tokunaga M, Nishikawa S, Maruta T, Moriya H. Association between estrogen receptor gene polymorphisms and curve severity of idiopathic scoliosis. Spine. 2002;27:2357-2362.
19. International HapMap Consortium. A haplotype map of the human genome. Nature. 2005;437:1299-1320.
20. Jagiello P, Gencik M, Arning L, Wieczorek S, Kunstmann E, Csernok E, Gross WL, Epplen JT. New genomic region for Wegener's granulomatosis as revealed by an extended association screen with 202 apoptosis-related genes. Hum Genet. 2004;114:468-477.
21. Jorde LB. Linkage disequilibrium and the search for complex disease genes. Genome Res. 2000;10:1435-1444.
22. Justice CM, Miller NH, Marosy B, Zhang J, Wilson AF. Familial idiopathic scoliosis: evidence of an X-linked susceptibility locus. Spine. 2003;28:589-594.
23. Kane WJ. Scoliosis prevalence: a call for a statement of terms. Clin Orthop Relat Res. 1977;126:43-46.
24. Kerem B, Rommens JM, Buchanan JA, Markiewicz D, Cox TK, Chakravarti A, Buchwald M, Tsui LC. Identification of the cystic fibrosis gene: genetic analysis. Science. 1989;245:1073-1080.
25. Kesling KL, Reinker KA. Scoliosis in twins: a meta-analysis of the literature and report of six cases. Spine. 1997;22:2009-2014.
26. King HA, Moe JH, Bradford DS, Winter RB. The selection of fusion levels in thoracic idiopathic scoliosis. J Bone Joint Surg Am. 1983;65:1302-1313.
27. Kruglyak L, Nickerson DA. Variation is the splice of life. Nat Genet. 2001;27:234-236.
28. Lander E, Kruglyak L. Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nat Genet. 1995;11:241-247.
29. Lenke LG, Betz RR, Harms J, Bridwell KH, Clements DH, Lowe TG, Blanke K. Adolescent idiopathic scoliosis: a new classification to determine extent of spinal arthrodesis. J Bone Joint Surg Am. 2001;83:1169-1181.
30. Livingston RJ, von Niederhausern A, Jegga AG, Crawford DC, Carlson CS, Rieder MJ, Gowrisankar S, Aronow BJ, Weiss RB, Nickerson DA. Pattern of sequence variation across 213 environmental response genes. Genome Res. 2004;14:1821-1831.
31. Lonstein JE. Idiopathic scoliosis. In: Moe JH, Bradford DS, Winter RB, Ogilvie J (eds). Moe's Textbook of Scoliosis and Other Spinal Deformities, 3rd ed. Philadelphia, PA: WB Saunders; 1995:219-256.
32. Lonstein JE, Carlson JM. The prediction of curve progression in untreated idiopathic scoliosis during growth. J Bone Joint Surg Am. 1984;66:1061-1071.
33. Lowe TG, Edgar M, Margulies JY, Miller NH, Raso VJ, Reinker KA, Rivard CH. Etiology of idiopathic scoliosis: current trends in research. J Bone Joint Surg Am. 2000;82:1157-1168.
34. Menzel S. Genetic and molecular analyses of complex metabolic disorders: genetic linkage. Ann N Y Acad Sci. 2002;967:249-257.
35. Miller NH. Genetics of familial idiopathic scoliosis. Clin Orthop Relat Res. 2002;401:60-64.
36. Miller NH, Justice CM, Marosy B, Doheny KF, Pugh E, Zhang J, Dietz HC, Wilson AF. Identification of candidate regions for familial idiopathic scoliosis. Spine. 2005;30:1181-1187.
37. Montanaro L, Parisini P, Greggi T, Di Silvestre M, Campoccia D, Rizzi S, Arciola CR. Evidence of a linkage between matrilin-1 gene (MATN1) and idiopathic scoliosis. Scoliosis. 2006;1:21-27.
38. Morcuende JA, Minhas R, Dolan L, Stevens J, Beck J, Wang K, Weinstein SL, Sheffield V. Allelic variants of human melatonin 1A receptor in patients with familial adolescent idiopathic scoliosis. Spine. 2003;28:2025-2028.
39. Nyholt DR. A simple correction for multiple testing for single-nucleotide polymorphisms in linkage disequilibrium with each other. Am J Hum Genet. 2004;74:765-769.
40. Ogilvie JW, Braun J, Argyle V, Nelson L, Meade M, Ward K. The search for idiopathic scoliosis genes. Spine. 2006;31:679-681.
41. Ott J. Association of genetic loci: replication or not, that is the question. Neurology. 2004;63:955-958.
42. Palmer LJ, Cardon LR. Shaking the tree: mapping complex disease genes with linkage disequilibrium. Lancet. 2005;366:1223-1234.
43. Qiu XS, Tang NL, Yeung HY, Lee KM, Hung VW, Ng BK, Ma SL, Kwok RH, Qin L, Qiu Y, Cheng JC. Melatonin receptor 1B (MTNR1B) gene polymorphism is associated with the occurrence of adolescent idiopathic scoliosis. Spine. 2007;32:1748-1753.
44. Rannala B, Reeve JP. High-resolution multipoint linkage-disequilibrium mapping in the context of a human genome sequence. Am J Hum Genet. 2001;69:159-178.
45. Riseborough EJ, Wynne-Davies R. A genetic survey of idiopathic scoliosis in Boston, Massachusetts. J Bone Joint Surg Am. 1973;55:974-982.
46. Roach JW. Adolescent idiopathic scoliosis. Orthop Clin North Am. 1999;30:353-365.
47. Salehi LB, Mangino M, De Serio S, De Cicco D, Capan F, Semprini S, Pizzuti A, Novelli G, Dallapiccola B. Assignment of a locus for autosomal dominant idiopathic scoliosis (IS) to human chromosome 17p11. Hum Genet. 2002;111:401-404.
48. Soucacos PN, Zacharis K, Gelalis J, Soultanis K, Kalos N, Beris A, Xenakis T, Johnson EO. Assessment of curve progression in idiopathic scoliosis. Eur Spine J. 1998;7:270-277.
49. Tamiya G, Shinya M, Imanishi T, Ikuta T, Makino S, Okamoto K, Furugaki K, Matsumoto T, Mano S, Ando S, Nozaki Y, Yukawa W, Nakashige R, Yamaguchi D, Ishibashi H, Yonekura M, Nakami Y, Takayama S, Endo T, Saruwatari T, Yagura M, Yoshikawa Y, Fujimoto K, Oka A, Chiku S, Linsen SE, Giphart MJ, Kulski JK, Fukazawa T, Hashimoto H, Kimura M, Hoshina Y, Suzuki Y, Hotta T, Mochida J, Minezaki T, Komai K, Shiozawa S, Taniguchi A, Yamanaka H, Kamatani N, Gojobori T, Bahram S, Inoko H. Whole genome association study of rheumatoid arthritis using 27 039 microsatellites. Hum Mol Genet. 2005;14:2305-2321.
50. Tang NL, Pharoah PD, Ma SL, Easton DF. Evaluation of an algorithm of tagging SNPs selection by linkage disequilibrium. Clin Biochem. 2006;39:240-243.
51. Tang NL, Yeung HY, Lee KM, Hung VW, Cheung CS, Ng BK, Kwok R, Guo X, Qin L, Cheng JC. A relook into the association of the estrogen receptor [alpha] gene (PvuII, XbaI) and adolescent idiopathic scoliosis: a study of 540 Chinese cases. Spine. 2006;31:2463-2468.
52. Weinstein SL. Natural history. Spine. 1999;24:2592-2600.
53. Weinstein SL, Zavala DC, Ponseti IV. Idiopathic scoliosis: long-term follow-up and prognosis in untreated patients. J Bone Joint Surg Am. 1981;63:702-712.
54. Wigginton JE, Cutler DJ, Abecasis GR. A note on exact tests of Hardy-Weinberg equilibrium. Am J Hum Genet. 2005;76:887-893.
55. Wise CA, Barnes R, Gillum J, Herring JA, Bowcock AM, Lovett M. Localization of susceptibility to familial idiopathic scoliosis. Spine. 2000;25:2372-2380.
56. Wu J, Qiu Y, Zhang L, Sun Q, Qiu X, He Y. Association of estrogen receptor gene polymorphisms with susceptibility to adolescent idiopathic scoliosis. Spine. 2006;31:1131-1136.
57. Wynne-Davies R. Familial (idiopathic) scoliosis: a family survey. J Bone Joint Surg Br. 1968;50:24-30.
58. Yeung HY, Tang NL, Lee KM, Ng BKW, Hung VW, Kwok R, Guo X, Qin L, Cheng JCY. Genetic association study of insulin like growth factor-I (IGF-I) gene with curve severity and osteopenia in adolescent idiopathic scoliosis. In: Uyttendaele D, Dangerfield PH (eds). Research into Spinal Deformities 5 (IRSSD2006), Vol 123. Amsterdam, The Netherlands: IOS Press; 2006:18-24.