Journal article
Genome-wide Scan for Myopia in the Old Order Amish
American journal of ophthalmology, v 140(3), pp 469-476
01 Sep 2005
PMID: 16084785
Featured in Collection : UN Sustainable Development Goals @ Drexel
Abstract
To identify myopia susceptibility genes influencing common myopia in 34 Old Order Amish families, a genetically well-defined founder population.
A prospective study of families with myopia consisting of a minimum of two individuals affected with myopia.
Extended families consisting of at least two siblings affected with myopia were ascertained. A genome-wide linkage scan using 387 markers was conducted by the Center for Inherited Disease Research (CIDR). Linkage analyses were conducted with parametric (autosomal dominant, fixed penetrance model) and nonparametric methods. Model-free linkage analysis was also performed maximizing over penetrance and over dominance (that is, fitting a wide range of both dominant and recessive models).
Under the fixed penetrance model, the maximum two-point heterogeneity LOD score (HLOD) was 1.59 at D20S451 and the maximum multipoint HLOD was 1.92 at D6S1021. The nonparametric maximum multipoint (NPL) at D3S2427 had a
P-value of .0005. Under the model-free analysis, multipoint heterogeneity LOD scores of 2.03 were observed on both chromosomes 8 (under a recessive model between D8S1130 and D8S1106) and X (under a recessive model between DXS6800 and DXS6789). Reanalyses of chromosomes 3, 6, 8, 20, and X using the best penetrance models resulted in maximum multipoint HLODs of 1.84 at D3S3053; 1.84 at D3S2427; 2.04 at D8S1130; and 2.34 at DXS6800.
The locus on chromosome 8p23 independently confirms a report by Hammond and associates mapping a myopia quantitative trait loci (QTL) to this region.
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Details
- Title
- Genome-wide Scan for Myopia in the Old Order Amish
- Creators
- Dwight Stambolian (Corresponding Author) - University of PennsylvaniaElise B. Ciner - Salus UniversityLauren C. Reider - University of PennsylvaniaChris Moy - University of PennsylvaniaDebra Dana - University of PennsylvaniaRobert Owens - Owens Optometrics, Lancaster, PennsylvaniaMelissa Schlifka - University of PennsylvaniaTaura Holmes - National Human Genome Research InstituteGrace Ibay - National Human Genome Research InstituteJoan E. Bailey-Wilson - National Human Genome Research Institute
- Publication Details
- American journal of ophthalmology, v 140(3), pp 469-476
- Publisher
- Elsevier
- Number of pages
- 8
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- Pennsylvania College of Optometry (PCO)
- Web of Science ID
- WOS:000231929300015
- Scopus ID
- 2-s2.0-24044490682
- Other Identifier
- 991022088939904721
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- Collaboration types
- Domestic collaboration
- Web of Science research areas
- Ophthalmology