Identification of Candidate Regions for Familial Idiopathic Scoliosis

Miller, Nancy H.; Justice, Cristina M.; Marosy, Beth; Doheny, Kimberly F.; Pugh, Elizabeth; Zhang, Jun; Dietz, Harry C.; Wilson, Alexander F.

doi:10.1097/01.brs.0000162282.46160.0a

Cited by 131 publications

(116 citation statements)

References 23 publications

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“…Wu et al have shown that Xbal site polymorphism of oestrogen receptor gene may be associated with a risk of AIS [60]. Despite continued efforts, as yet no single gene from these regions has been definitively linked to scoliosis [34].…”

Section: Genetic Factorsmentioning

confidence: 99%

Recent advances in the aetiology of adolescent idiopathic scoliosis

Cheung

Wang

Qiu

et al. 2007

International Orthopaedics (SICO

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The aetiology of adolescent idiopathic scoliosis (AIS) is still unknown despite many years of research effort. Theories on AIS's aetiology have included mechanical, hormonal, metabolic, neuromuscular, growth, and genetic abnormalities. Amongst these, some factors may be epiphenomena rather than the cause itself. Other factors may even contribute to curve progression, rather than curve initiation. Current views maintain that AIS is a multifactorial disease with genetic predisposing factors [Lowe et al. in J Bone Joint Surg [Am] 82:1157-1168, 2000. With improvements in diagnostic methods, imaging and genomics, there has been considerable recent work on aetiology. This review aims to bring readers up-to-date with the latest developments in scoliosis research.Résumé L'étiologie de la scoliose idiopathique de l'adolescent (AIS) reste inconnue en dépit de nombreux travaux et de nombreux efforts de recherche. Dans les théories voulant expliquer une scoliose, on cherche à mettre en évidence des facteurs mécaniques, hormonaux, méta-boliques, neuro musculaires, au niveau de la croissance mais aussi des anomalies d'origine génétique. Parmi tous ces facteurs, certains d'entre eux sont des épiphénomènes, certains facteurs peuvent contribuer à la progression de la courbure scoliotique ou à son apparition. De nombreux points de vue permettent de penser que l'AIS est une maladie d'origine multi factorielle avec des facteurs prédisposant d'origines génétiques. L'amélioration des méthodes de diagnostic, d'imageries et d'analyses génét-iques contribue à mieux approcher cette étiologie. Ce travail a pour but de mettre en évidence les facteurs les plus actuels dont on peut penser qu'ils sont à l'origine du développement d'une scoliose.

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Section: Genetic Factorsmentioning

confidence: 99%

Recent advances in the aetiology of adolescent idiopathic scoliosis

Cheung

Wang

Qiu

et al. 2007

International Orthopaedics (SICO

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“…Relatives to patients with idiopathic scoliosis have a higher prevalence of this condition than the population in general, suggesting the importance of hereditary factors [1][2][3]. Pedigree studies and genetic analyses have so far shown inconsistent results both regarding the mode of heritability and possible genetic determinants associated with the scoliotic phenotype [4][5][6].…”

Section: Introductionmentioning

confidence: 99%

Heritability of scoliosis

2011

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Purpose To estimate the heritability of scoliosis in the Swedish Twin Registry. Methods Self-reported data on scoliosis from 64,578 twins in the Swedish Twin Registry were analysed. Prevalence, pair-and probandwise concordances and tetrachoric correlations in mono-and dizygotic same-sex twins were calculated. The relative importance of genetic variance, i.e. the heritability, and unique and shared environmental variance was estimated using structural equation modelling in Mx software. In addition, all twins in the twin registry were matched against the Swedish Inpatient Register on the primary diagnosis idiopathic scoliosis. Results The prevalence of scoliosis was 4%. Pair-and probandwise concordance was 0.11/0.17 for mono-and 0.04/0.08 for same-sex dizygotic twins. The tetrachoric correlation (95% CI) was 0.41 (0.33-0.49) in mono-and 0.18 (0.09-0.29) in dizygotic twins. The most favourable model in the Mx analyses estimated the additive genetic effects (95% CI) to 0.38 (0.18-0.46) and the unique environmental effects to 0.62 (0.54-0.70). Shared environmental effects were not significant. The pairwise/ probandwise concordance for idiopathic scoliosis in the Swedish Inpatient Register was 0.08/0.15 for monozygotic and zero/zero for same-sex dizygotic twins. Conclusion Using self-reported data on scoliosis from the Swedish Twin Registry, we estimate that 38% of the variance in the liability to develop scoliosis is due to additive genetic effects and 62% to unique environmental effects. This is the first study of sufficient size to make heritability estimates of scoliosis.

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“…5 Inoue et al 6 reported AIS concordance rates as 92.3% in monozygotic twins, and 62.5% in dizygotic twins. Recent genome-wide linkage analyses have identified many predisposing loci of AIS, [7][8][9][10][11][12][13][14][15][16] further supporting a role of genetic factor(s) in AIS. Single nucleotide polymorphisms (SNPs) in the genes for estrogen receptor 1 (ESR1), 17 estrogen receptor 2 (ESR2), 18 matrilin 1 (MATN1), 19 melatonin receptor 1B (MTNR1B), 20 and tryptophan hydroxylase 1 (TPH1) 21 are reported to be associated with AIS predisposition.…”

mentioning

confidence: 99%

Lack of association between adolescent idiopathic scoliosis and previously reported single nucleotide polymorphisms in MATN1, MTNR1B, TPH1, and IGF1 in a Japanese population

Takahashi

Matsumoto

Karasugi

et al. 2011

Journal Orthopaedic Research

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Adolescent idiopathic scoliosis (AIS) is a spinal deformity most commonly arising in apparently healthy girls around puberty. AIS has a strong genetic predisposition. Several genetic associations between AIS and single nucleotide polymorphisms (SNPs) have been reported; common SNPs in the genes for matrilin 1 (MATN1), melatonin receptor 1B (MTNR1B), tryptophan hydroxylase 1 (TPH1), and insulin-like growth factor 1 (IGF1) are reported to be associated with AIS in Chinese. However, these associations have not been replicated so far. To confirm the associations, we compared these SNPs with AIS predisposition and curve severity in a population of Japanese females consisting of 798 AIS patients and 1,239 controls. All the subjects were genotyped using the PCR-based Invader assay. We found no association of any of the SNPs with AIS predisposition or curve severity. Considering the statistical power and sample size of the present study, we concluded that these SNPs are not associated with either AIS predisposition or curve severity in Japanese. ß

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Identification of Candidate Regions for Familial Idiopathic Scoliosis

Abstract: Linkage analyses have identified several candidate regions, a significant step in defining the genetic etiology of this disorder.

Cited by 131 publications

References 23 publications

Recent advances in the aetiology of adolescent idiopathic scoliosis

Recent advances in the aetiology of adolescent idiopathic scoliosis

Heritability of scoliosis

Lack of association between adolescent idiopathic scoliosis and previously reported single nucleotide polymorphisms in MATN1, MTNR1B, TPH1, and IGF1 in a Japanese population

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