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Justice, Cristina M.; Miller, Nancy H.; Marosy, Beth; Zhang, Jun; Wilson, Alexander F.

doi:10.1097/00007632-200303150-00014

Cited by 29 publications

(28 citation statements)

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“…Chromosomes previously studied included 6, 9, 12, 16, and 17. Most of the studies regarding genetic influence on AIS were conducted in families: chromosomes 6p (D6S1051–D6S1017), 6q (D6S1053–D6S1021), 8q IS3 (D8S1477–D8S279), 9q (D9S938–D9S934), 10q (D10S1222–D10S212), 16q (D16S764–D16S2624), 17p IS2 (D17S974–D17S1294), 18q (D18S1357–D18S1371), and 19p IS1 (D19S1034) [10111314151718]. Our study was performed in patients who were unrelated, and we found a risk for one marker.…”

Section: Discussionmentioning

confidence: 99%

“…The reported complications of scoliosis surgery are serious [9] and can be avoided in a majority of children with IS if early diagnosis and proper bracing is used. In conservative societies, girls often remain covered, and early spine deformities are easily missed such that most of the affected children end up being treated operatively There is currently no clear con-sensus regarding the genetic influence on scoliosis; however, reports indicate that adolescent IS (AIS) is linked to a few chromosomes [101112131415], and most of these linkages are found to be in familial scoliosis. Heary and Madhavan [16] stated that scoliosis can be inherited because of autosomal dominant, X-linked, or multi-gene influences.…”

Section: Introductionmentioning

confidence: 99%

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Genetic Markers for Adolescent Idiopathic Scoliosis on Chromosome 19p13.3 among Saudi Arabian Girls

Othman¹,

Sadat-Ali²,

Amer³

et al. 2017

Asian Spine J

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Study DesignProspective case-controlled study.PurposeThis study aimed to assess genetic influence in Saudi Arabian children with adolescent idiopathic scoliosis (AIS).Overview of LiteratureThe genetic locus linked to chromosome 19p for idiopathic scoliosis has been described. A pilot study conducted at King Fahd Hospital of the University, Al-Khobar showed that three microsatellite markers (D19S216, D19S894, and DS1034) of chromosome 19p13.3 were significant in Saudi Arabian females compared with healthy subjects.MethodsA total of 100 unrelated Saudi Arabian girls treated for AIS, their parents, healthy siblings, and healthy subjects were recruited for genetic analysis of markers on chromosome 19p13.3. After informed consent was obtained from their parents, blood samples were collected and parametric and nonparametric linkage analyses were performed using GENEHUNTER ver. 2.1. Multipoint linkage analysis was used to specify an autosomal dominant trait with a gene frequency of 0.01 and an estimated penetrance of 80% at the genotypic and allelic levels.ResultsFive hundred blood samples were collected and analyzed for microsatellite markers (D19S216, D19S894, and DS1034) of chromosome 19p13.3. Comparison among patients, family members, and healthy subjects revealed no significant association between markers and scoliosis at the genotypic level: D19S216 (p=0.21), D19S894 (p=0.37), and DS1034 (p=0.25). However, at the allelic level, a statistically significant association was observed for marker DS1034 (p=0.008), and marker D19S216 showed significance between fathers and patients (p<0.001) compared with patients and mothers. The other two markers, D19S216 (p=0.25) and D19S894 (p=0.17), showed no significant association between patients and mothers.ConclusionsAt the allelic level, marker DS1034 was significantly associated with AIS patients and their fathers. This allelic marker on chromosome 19p13.3 appears to be important in AIS etiology.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Genetic Markers for Adolescent Idiopathic Scoliosis on Chromosome 19p13.3 among Saudi Arabian Girls

Othman¹,

Sadat-Ali²,

Amer³

et al. 2017

Asian Spine J

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“…Genome-wide linkage screens and fine-mapping of candidate loci in families with at least two members with IS, termed F amilial I diopathic S coliosis (FIS), have identified candidate regions on 6q, 10q, 18q [3]; 17p11.2 [4]; 19p13.3, 2q [5]; Xq23-26 [6]; 6p25-22, 6q14-16, 9q32-34, 16q11-12, 17p11-q11 [7]; 8q12 [8]; 9q31.2-q34.2, 17q25.4-qtel [9]; and 12pter [10]. Candidate regions on chromosomes 9q32-34, and 19p13 have been independently confirmed [9,11].…”

Section: Introductionmentioning

confidence: 99%

Intra-Familial Tests of Association between Familial Idiopathic Scoliosis and Linked Regions on 9q31.3–q34.3 and 16p12.3–q22.2

et al. 2012

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Objective: Custom genotyping of markers in families with familial idiopathic scoliosis were used to fine-map candidate regions on chromosomes 9 and 16 in order to identify candidate genes that contribute to this disorder and prioritize them for next-generation sequence analysis. Methods: Candidate regions on 9q and 16p–16q, previously identified as linked to familial idiopathic scoliosis in a study of 202 families, were genotyped with a high-density map of single nucleotide polymorphisms. Tests of linkage for fine-mapping and intra-familial tests of association, including tiled regression, were performed on scoliosis as both a qualitative and quantitative trait. Results and Conclusions: Nominally significant linkage results were found for markers in both candidate regions. Results from intra-familial tests of association and tiled regression corroborated the linkage findings and identified possible candidate genes suitable for follow-up with next-generation sequencing in these same families. Candidate genes that met our prioritization criteria included FAM129B and CERCAM on chromosome 9 and SYT1, GNAO1, and CDH3 on chromosome 16.

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“…Emery and Remoin17 believed that the genetic influence in AIS follows the principles of the Mendelian Inheritance, but Lowe et al18 suggested that there is evidence that AIS is inherited in an autosomal dominant manner. The study by Justice et al8 sheds light on the aspect that there is a possibility of X-linked inheritance in AIS. Scoliosis has long been know to occur in the human race and scientists have yet to determine the exact mode of inheritance.…”

Section: Discussionmentioning

confidence: 99%

Genetic Markers for Idiopathic Scoliosis in Arab Population: A Pilot Study

2009

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Study DesignCross-sectional screening.PurposeThis study was conducted to determine if there is any association of the three microsatellite markers on chromosome 19p 13.3 in unrelated Saudi Arabian girls who were suffering with adolescent idiopathic scoliosis (AIS) and their healthy siblings.Overview of LiteratureThe genetic influence on the development of familial scoliosis has been previously described, but the genetic influence on AIS still remains unknown. Three microsatellite markers (D19S216, D19S894, and DS1034) of chromosome 19p 13.3 were reported to be significantly associated with familial scoliosis. This cross-sectional screening was carried out in AIS patients and their siblings.MethodsFor eleven Saudi Arabian girls who were treated for AIS and their 11 siblings, we performed a linkage analysis using parametric and nonparametric methods and using GENEHUNTER ver. 2.1. Multipoint linkage analysis was used to specify an autosomal dominant trait with a gene frequency of 0.01 at the genotypic and the allelic levels. One sided Fisher's exact tests were used in the analysis of the contingency tables for the D19S216, D19S894 and DS1034 markers.ResultsThe analysis between the patient group and the healthy siblings showed that at the genotypic level there was a significant association of the markers and scoliosis (D19S894 [p=0.036], D19S216 [p=0.004], and DS1034 [p=0.013]). Yet at the allelic level, there was no statistically significant association of the markers between the AIS patients and their siblings.ConclusionsOur pilot study shows that there is a genetic influence between the AIS patients and the siblings. We believe large scale genetic screening is warranted for the patients with AIS to identify beyond any doubt the influence of these markers.

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Abstract: The results suggest that a region on the X chromosome may be linked to the expression of familial idiopathic scoliosis in a subset of these families.

Cited by 29 publications

References 0 publications

Genetic Markers for Adolescent Idiopathic Scoliosis on Chromosome 19p13.3 among Saudi Arabian Girls

Genetic Markers for Adolescent Idiopathic Scoliosis on Chromosome 19p13.3 among Saudi Arabian Girls

Intra-Familial Tests of Association between Familial Idiopathic Scoliosis and Linked Regions on 9q31.3–q34.3 and 16p12.3–q22.2

Genetic Markers for Idiopathic Scoliosis in Arab Population: A Pilot Study

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