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Familial idiopathic scoliosis: evidence of an X-linked susceptibility locus.
Spine (Phila Pa 1976). 2003 Mar 15; 28(6):589-94.S

Abstract

STUDY DESIGN

A genomic screen and statistical linkage analysis of a large sample of families with individuals having idiopathic scoliosis was performed.

OBJECTIVES

To identify an X-linked susceptibility locus involved in the expression of familial idiopathic scoliosis.

SUMMARY OF BACKGROUND DATA

A large sample of families with individuals having idiopathic scoliosis (202 families; 1198 individuals) were diagnosed through physical examination and radiographic criteria, and genomic screening and genetic linkage analyses were performed.

METHODS

Model-independent linkage analysis was used to screen genotyping data from 15 X-linked markers in 202 families (1198 individuals). Families were stratified based on the ratio of the likelihood of an X-linked dominant (XLD) inheritance model relative to that of an autosomal dominant (AD) model. Both model-independent and model-dependent linkage analyses were used to identify potential candidate regions.

RESULTS

When the entire set of families were analyzed with model-independent methods, no result was significant at the 0.05 level for any of the markers. However, when the families were stratified based on the ratio of the likelihood of the X-linked dominant to autosomal dominant mode of inheritance, results from model-dependent linkage analysis of 15% of the families most likely to have X-linked dominant inheritance showed six adjacent markers with positive lod score values and a maximum lod score of 1.69 (theta = 0.2) at marker GATA172D05. A lod score of 2.23 at this same marker was found in a single family with six affected individuals.

CONCLUSION

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.

Authors+Show Affiliations

Genometrics Section, NHGRI, National Institutes of Health, Baltimore, Maryland, USA.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

12642767

Citation

Justice, Cristina M., et al. "Familial Idiopathic Scoliosis: Evidence of an X-linked Susceptibility Locus." Spine, vol. 28, no. 6, 2003, pp. 589-94.
Justice CM, Miller NH, Marosy B, et al. Familial idiopathic scoliosis: evidence of an X-linked susceptibility locus. Spine (Phila Pa 1976). 2003;28(6):589-94.
Justice, C. M., Miller, N. H., Marosy, B., Zhang, J., & Wilson, A. F. (2003). Familial idiopathic scoliosis: evidence of an X-linked susceptibility locus. Spine, 28(6), 589-94.
Justice CM, et al. Familial Idiopathic Scoliosis: Evidence of an X-linked Susceptibility Locus. Spine (Phila Pa 1976). 2003 Mar 15;28(6):589-94. PubMed PMID: 12642767.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Familial idiopathic scoliosis: evidence of an X-linked susceptibility locus. AU - Justice,Cristina M, AU - Miller,Nancy H, AU - Marosy,Beth, AU - Zhang,Jun, AU - Wilson,Alexander F, PY - 2003/3/19/pubmed PY - 2003/3/29/medline PY - 2003/3/19/entrez SP - 589 EP - 94 JF - Spine JO - Spine (Phila Pa 1976) VL - 28 IS - 6 N2 - STUDY DESIGN: A genomic screen and statistical linkage analysis of a large sample of families with individuals having idiopathic scoliosis was performed. OBJECTIVES: To identify an X-linked susceptibility locus involved in the expression of familial idiopathic scoliosis. SUMMARY OF BACKGROUND DATA: A large sample of families with individuals having idiopathic scoliosis (202 families; 1198 individuals) were diagnosed through physical examination and radiographic criteria, and genomic screening and genetic linkage analyses were performed. METHODS: Model-independent linkage analysis was used to screen genotyping data from 15 X-linked markers in 202 families (1198 individuals). Families were stratified based on the ratio of the likelihood of an X-linked dominant (XLD) inheritance model relative to that of an autosomal dominant (AD) model. Both model-independent and model-dependent linkage analyses were used to identify potential candidate regions. RESULTS: When the entire set of families were analyzed with model-independent methods, no result was significant at the 0.05 level for any of the markers. However, when the families were stratified based on the ratio of the likelihood of the X-linked dominant to autosomal dominant mode of inheritance, results from model-dependent linkage analysis of 15% of the families most likely to have X-linked dominant inheritance showed six adjacent markers with positive lod score values and a maximum lod score of 1.69 (theta = 0.2) at marker GATA172D05. A lod score of 2.23 at this same marker was found in a single family with six affected individuals. CONCLUSION: 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. SN - 1528-1159 UR - https://www.unboundmedicine.com/medline/citation/12642767/Familial_idiopathic_scoliosis:_evidence_of_an_X_linked_susceptibility_locus_ L2 - https://doi.org/10.1097/01.BRS.0000049940.39801.E6 DB - PRIME DP - Unbound Medicine ER -