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Allelic variants of human melatonin 1A receptor in patients with familial adolescent idiopathic scoliosis.
Spine (Phila Pa 1976). 2003 Sep 01; 28(17):2025-8; discussion 2029.S

Abstract

STUDY DESIGN

A genetic study of patients with familial adolescent idiopathic scoliosis.

OBJECTIVES

The purpose of this study was to evaluate the evidence for linkage on chromosome 4q and determine whether mutations in the gene coding for melatonin receptor are present.

SUMMARY OF BACKGROUND DATA

Adolescent idiopathic scoliosis is the most common spine deformity arising during childhood, but its cause remains unknown. The fact that adolescent idiopathic scoliosis is often seen in several members of the same family strongly suggests a genetic factor. Recent work by Wise et al provides evidence for linkage of adolescent idiopathic scoliosis at several different chromosome sites, including 4q. In addition, there is some evidence that adolescent idiopathic scoliosis may be related to a disturbance in melatonin metabolism, and the human melatonin-1A receptor is known to be located on chromosome 4q.

METHODS

Probands having clinically relevant idiopathic scoliosis (Cobb angle >30 degrees) and their relatives were identified. Radiographic confirmation was required for a positive diagnosis. Linkage analysis was performed with 15 microsatellite markers of chromosome 4q spaced at approximately 10-cM resolution and 5 microsatellite markers surrounding the site for human melatonin receptor. The gene for human melatonin receptor was screened for mutations in the coding region using genomic DNA samples by single-strand conformational polymorphism analysis. Amplimers showing a band shift were reamplified and sequenced bidirectionally.

RESULTS

There was no evidence for linkage at chromosome 4q in this study population. Twenty-nine individuals demonstrated aberrant single-strand conformation polymorphism band patterns, and sequence evaluation demonstrated six genetic polymorphisms for the gene for human melatonin receptor. These genetic variations were found in both affected and nonaffected individuals, and there was no correlation between gene variants and the phenotype for adolescent idiopathic scoliosis.

CONCLUSIONS

The results of this study demonstrated no evidence of linkage to chromosome 4q and no mutations in the coding region of the gene for human melatonin receptor. The identification of variants in the human melatonin receptor could provide a useful tool for testing the gene in the predisposition to various other melatonin-related disorders and for clarifying the role of melatonin in adolescent idiopathic scoliosis.

Authors+Show Affiliations

Department of Orthopaedic Surgery, University of Iowa, Iowa City, Iowa, USA. jose-morcuende@uiowa.eduNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

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

Language

eng

PubMed ID

12973153

Citation

Morcuende, Jose A., et al. "Allelic Variants of Human Melatonin 1A Receptor in Patients With Familial Adolescent Idiopathic Scoliosis." Spine, vol. 28, no. 17, 2003, pp. 2025-8; discussion 2029.
Morcuende JA, Minhas R, Dolan L, et al. Allelic variants of human melatonin 1A receptor in patients with familial adolescent idiopathic scoliosis. Spine (Phila Pa 1976). 2003;28(17):2025-8; discussion 2029.
Morcuende, J. A., Minhas, R., Dolan, L., Stevens, J., Beck, J., Wang, K., Weinstein, S. L., & Sheffield, V. (2003). Allelic variants of human melatonin 1A receptor in patients with familial adolescent idiopathic scoliosis. Spine, 28(17), 2025-8; discussion 2029.
Morcuende JA, et al. Allelic Variants of Human Melatonin 1A Receptor in Patients With Familial Adolescent Idiopathic Scoliosis. Spine (Phila Pa 1976). 2003 Sep 1;28(17):2025-8; discussion 2029. PubMed PMID: 12973153.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Allelic variants of human melatonin 1A receptor in patients with familial adolescent idiopathic scoliosis. AU - Morcuende,Jose A, AU - Minhas,Raman, AU - Dolan,Lori, AU - Stevens,Jeff, AU - Beck,John, AU - Wang,Kai, AU - Weinstein,Stuart L, AU - Sheffield,Val, PY - 2003/9/16/pubmed PY - 2004/4/6/medline PY - 2003/9/16/entrez SP - 2025-8; discussion 2029 JF - Spine JO - Spine (Phila Pa 1976) VL - 28 IS - 17 N2 - STUDY DESIGN: A genetic study of patients with familial adolescent idiopathic scoliosis. OBJECTIVES: The purpose of this study was to evaluate the evidence for linkage on chromosome 4q and determine whether mutations in the gene coding for melatonin receptor are present. SUMMARY OF BACKGROUND DATA: Adolescent idiopathic scoliosis is the most common spine deformity arising during childhood, but its cause remains unknown. The fact that adolescent idiopathic scoliosis is often seen in several members of the same family strongly suggests a genetic factor. Recent work by Wise et al provides evidence for linkage of adolescent idiopathic scoliosis at several different chromosome sites, including 4q. In addition, there is some evidence that adolescent idiopathic scoliosis may be related to a disturbance in melatonin metabolism, and the human melatonin-1A receptor is known to be located on chromosome 4q. METHODS: Probands having clinically relevant idiopathic scoliosis (Cobb angle >30 degrees) and their relatives were identified. Radiographic confirmation was required for a positive diagnosis. Linkage analysis was performed with 15 microsatellite markers of chromosome 4q spaced at approximately 10-cM resolution and 5 microsatellite markers surrounding the site for human melatonin receptor. The gene for human melatonin receptor was screened for mutations in the coding region using genomic DNA samples by single-strand conformational polymorphism analysis. Amplimers showing a band shift were reamplified and sequenced bidirectionally. RESULTS: There was no evidence for linkage at chromosome 4q in this study population. Twenty-nine individuals demonstrated aberrant single-strand conformation polymorphism band patterns, and sequence evaluation demonstrated six genetic polymorphisms for the gene for human melatonin receptor. These genetic variations were found in both affected and nonaffected individuals, and there was no correlation between gene variants and the phenotype for adolescent idiopathic scoliosis. CONCLUSIONS: The results of this study demonstrated no evidence of linkage to chromosome 4q and no mutations in the coding region of the gene for human melatonin receptor. The identification of variants in the human melatonin receptor could provide a useful tool for testing the gene in the predisposition to various other melatonin-related disorders and for clarifying the role of melatonin in adolescent idiopathic scoliosis. SN - 1528-1159 UR - https://www.unboundmedicine.com/medline/citation/12973153/Allelic_variants_of_human_melatonin_1A_receptor_in_patients_with_familial_adolescent_idiopathic_scoliosis_ L2 - https://doi.org/10.1097/01.BRS.0000083235.74593.49 DB - PRIME DP - Unbound Medicine ER -