Genetic loci for pathological myopia are not associated with juvenile myopia

Donald O Mutti; Elena Semina; Mary Marazita; Margaret Cooper; Jeffrey C Murray; Karla Zadnik

doi:10.1002/ajmg.10683

Back

Genetic loci for pathological myopia are not associated with juvenile myopia

Journal article

Peer reviewed

Genetic loci for pathological myopia are not associated with juvenile myopia

Donald O Mutti, Elena Semina, Mary Marazita, Margaret Cooper, Jeffrey C Murray and Karla Zadnik

American journal of medical genetics, Vol.112(4), pp.355-360

11/01/2002

DOI: 10.1002/ajmg.10683

PMID: 12376937

View Online

Abstract

The purpose of this study was to evaluate chromosomal regions previously linked to pathological myopia for linkage to juvenile myopia in a sample of myopic children and their families. Of 125 families with a myopic child participating in the Orinda longitudinal study of myopia, 53 submitted 221 buccal swab samples for genetic analysis. Myopia in proband children was defined as -0.75 D or more myopia in both meridians on cycloplegic autorefraction (1% tropicamide). Affected status in parents and siblings was obtained by survey. DNA was extracted from buccal mucosal cells, amplified by polymerase chain reaction (PCR), and then analyzed with seven markers for chromosome 12 and five markers for chromosome 18 in the regions previously associated with pathological myopia. LOD scores were not significant for any marker tested. The largest positive LOD score was 0.15 for GATA30F04. Model-free methods using a SimIBD approach suggested a possible linkage at one marker, GATA6H09 (P = 0.003), but these results were not supported by transmission disequilibrium test (TDT) analysis. The statistical power to detect LOD scores of > or =1.0, assuming homogeneity, was estimated at 93.2%. We found no confirmatory evidence of linkage between juvenile myopia and regions of chromosomes 12 and 18 previously associated with pathological myopia.

Myopia - genetics

Genetic Predisposition to Disease - genetics

Humans

Myopia - pathology

Chromosome Mapping

Models, Genetic

Child

Lod Score

Microsatellite Repeats

Details

Title: Subtitle: Genetic loci for pathological myopia are not associated with juvenile myopia
Creators: Donald O Mutti - The Ohio State University College of Optometry, Columbus, Ohio 43210-1240, USA
Elena Semina
Mary Marazita
Margaret Cooper
Jeffrey C Murray
Karla Zadnik
Resource Type: Journal article
Publication Details: American journal of medical genetics, Vol.112(4), pp.355-360
DOI: 10.1002/ajmg.10683
PMID: 12376937
NLM abbreviation: Am J Med Genet
ISSN: 0148-7299
eISSN: 1096-8628
Publisher: Wiley; United States
Grant note: 1 P41 RR03655 / NCRR NIH HHS R01-EY12384 / NEI NIH HHS U10-EY08893 / NEI NIH HHS R21-EY12273 / NEI NIH HHS
Language: English
Date published: 11/01/2002
Academic Unit: Anatomy and Cell Biology; Stead Family Department of Pediatrics; Epidemiology; Pediatric Dentistry; Craniofacial Anomalies Research Center; Dental Research
Record Identifier: 9984025473002771

Metrics

13 Record Views

33 Times Cited - Web of Science