Idiopathic scoliosis in twins studied by DNA fingerprinting

Inoue, Masatoshi; Minami, Shohei; Kitahara, Hiroshi; Otsuka, Yoshinori; Nakata, Yoshio; Takaso, Masashi; Moriya, Hideshige

doi:10.1302/0301-620x.80b2.0800212

Cited by 28 publications

(9 citation statements)

References 10 publications

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“…Heterogeneity both in terms of phenotype and genotype are enormous in AIS. It was widely reported that discordant profiles of spine curvature are present among siblings in a family [17,19] and even between genetically identical twins [20][21][22]. On the other hand, these studies confirm a very high concordance rate and degree of familial segregation, thus supporting the conclusion of the high heritability of AIS.…”

Section: Ais Delineated Into 2 Phases: Initiation and Progressionsupporting

confidence: 62%

A Decade in Review after Idiopathic Scoliosis Was First Called a Complex Trait—A Tribute to the Late Dr. Yves Cotrel for His Support in Studies of Etiology of Scoliosis

Tang

Dobbs²,

Gurnett

et al. 2021

Genes

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Adolescent Idiopathic Scoliosis (AIS) is a prevalent and important spine disorder in the pediatric age group. An increased family tendency was observed for a long time, but the underlying genetic mechanism was uncertain. In 1999, Dr. Yves Cotrel founded the Cotrel Foundation in the Institut de France, which supported collaboration of international researchers to work together to better understand the etiology of AIS. This new concept of AIS as a complex trait evolved in this setting among researchers who joined the annual Cotrel meetings. It is now over a decade since the first proposal of the complex trait genetic model for AIS. Here, we review in detail the vast information about the genetic and environmental factors in AIS pathogenesis gathered to date. More importantly, new insights into AIS etiology were brought to us through new research data under the perspective of a complex trait. Hopefully, future research directions may lead to better management of AIS, which has a tremendous impact on affected adolescents in terms of both physical growth and psychological development.

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Section: Ais Delineated Into 2 Phases: Initiation and Progressionsupporting

confidence: 62%

A Decade in Review after Idiopathic Scoliosis Was First Called a Complex Trait—A Tribute to the Late Dr. Yves Cotrel for His Support in Studies of Etiology of Scoliosis

Tang

Dobbs²,

Gurnett

et al. 2021

Genes

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“…Genetic basis of IS is also supported by the results of the twin studies. Inoue and colleagues found the concordance rate of scoliosis of 92,3% in monozygous, decreasing to 62,5% in dizygous twins [9]. Lower concordance rate was found in the study of Kesling and al, 73% among monozygous and 36% among dizygous twins [10].…”

Section: Introductionmentioning

confidence: 99%

Familial or Sporadic Idiopathic Scoliosis – classification based on artificial neural network and GAPDH and ACTB transcription profile

Waller

Nowak

Tkacz

et al. 2013

BioMedical Engineering OnLine

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BackgroundImportance of hereditary factors in the etiology of Idiopathic Scoliosis is widely accepted. In clinical practice some of the IS patients present with positive familial history of the deformity and some do not. Traditionally about 90% of patients have been considered as sporadic cases without familial recurrence. However the exact proportion of Familial and Sporadic Idiopathic Scoliosis is still unknown. Housekeeping genes encode proteins that are usually essential for the maintenance of basic cellular functions. ACTB and GAPDH are two housekeeping genes encoding respectively a cytoskeletal protein β-actin, and glyceraldehyde-3-phosphate dehydrogenase, an enzyme of glycolysis. Although their expression levels can fluctuate between different tissues and persons, human housekeeping genes seem to exhibit a preserved tissue-wide expression ranking order. It was hypothesized that expression ranking order of two representative housekeeping genes ACTB and GAPDH might be disturbed in the tissues of patients with Familial Idiopathic Scoliosis (with positive family history of idiopathic scoliosis) opposed to the patients with no family members affected (Sporadic Idiopathic Scoliosis). An artificial neural network (ANN) was developed that could serve to differentiate between familial and sporadic cases of idiopathic scoliosis based on the expression levels of ACTB and GAPDH in different tissues of scoliotic patients. The aim of the study was to investigate whether the expression levels of ACTB and GAPDH in different tissues of idiopathic scoliosis patients could be used as a source of data for specially developed artificial neural network in order to predict the positive family history of index patient.ResultsThe comparison of developed models showed, that the most satisfactory classification accuracy was achieved for ANN model with 18 nodes in the first hidden layer and 16 nodes in the second hidden layer. The classification accuracy for positive Idiopathic Scoliosis anamnesis only with the expression measurements of ACTB and GAPDH with the use of ANN based on 6-18-16-1 architecture was 8 of 9 (88%). Only in one case the prediction was ambiguous.ConclusionsSpecially designed artificial neural network model proved possible association between expression level of ACTB, GAPDH and positive familial history of Idiopathic Scoliosis.

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“…Decades of research into AIS families and population studies have established the strong heritability of AIS with significant sibling recurrence-risk ratio for both mild and severe curvatures [ 10 , 11 ]. While genetic heritability is high, studies of AIS families and large cohorts have consistently demonstrated significant heterogeneity indicative of the complex genetic nature of this disorder [ 12 , 13 ]. Whole exome sequencing (WES) and genome-wide association studies (GWAS) have resulted in a large number of potential predisposition genetic variants, such as those in or near LBX1 , BNC2 , and GPR126 , which have been replicated across multiple populations.…”

Section: Introduction/backgroundmentioning

confidence: 99%

Genetic variants associated with the occurrence and progression of adolescent idiopathic scoliosis: a systematic review protocol

et al. 2022

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Background Adolescent idiopathic scoliosis (AIS) is a structural lateral spinal curvature of ≥ 10° with rotation. Approximately 2–3% of children in most populations are affected with AIS, and this condition is responsible for approximately $1.1 billion in surgical costs to the US healthcare system. Although a genetic factor for AIS has been demonstrated for decades, with multiple potentially contributory loci identified across populations, treatment options have remained limited to bracing and surgery. Methods The databases MEDLINE (via PubMed), Embase, Google Scholar, and Ovid MEDLINE will be searched and limited to articles in English. We will conduct title and abstract, full-text, and data extraction screening through Covidence, followed by data transfer to a custom REDCap database. Quality assessment will be confirmed by multiple reviewers. Studies containing variant-level data (i.e., GWAS, exome sequencing) for AIS subjects and controls will be considered. Outcomes of interest will include presence/absence of AIS, scoliosis curve severity, scoliosis curve progression, and presence/absence of nucleotide-level variants. Analyses will include odds ratios and relative risk assessments, and subgroup analysis (i.e., males vs. females, age groups) may be applied. Quality assessment tools will include GRADE and Q-Genie for genetic studies. Discussion In this systematic review, we seek to evaluate the quality of genetic evidence for AIS to better inform research efforts, to ultimately improve the quality of patient care and diagnosis. Systematic review registration PROSPERO registration #CRD42021243253

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Idiopathic scoliosis in twins studied by DNA fingerprinting

Cited by 28 publications

References 10 publications

A Decade in Review after Idiopathic Scoliosis Was First Called a Complex Trait—A Tribute to the Late Dr. Yves Cotrel for His Support in Studies of Etiology of Scoliosis

A Decade in Review after Idiopathic Scoliosis Was First Called a Complex Trait—A Tribute to the Late Dr. Yves Cotrel for His Support in Studies of Etiology of Scoliosis

Familial or Sporadic Idiopathic Scoliosis – classification based on artificial neural network and GAPDH and ACTB transcription profile

Genetic variants associated with the occurrence and progression of adolescent idiopathic scoliosis: a systematic review protocol

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