TY - JOUR
T1 - Genome-wide Scan of African-American and White Families for Linkage to Myopia
AU - Ciner, Elise
AU - Ibay, Grace
AU - Wojciechowski, Robert
AU - Dana, Debra
AU - Holmes, Taura N.
AU - Bailey-Wilson, Joan E.
AU - Stambolian, Dwight
N1 - Funding Information:
This study was supported in part by Grant EY12226 from the National Eye Institute, National Institutes of Health, and by the Intramural Research Program of the National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland. The authors indicate no financial conflict of interest. Involved in design of study (E.C., J.E.B.-W., D.S.); conduct of study (E.C., J.E.B.-W., D.S.); collection of data (E.C., D.S., D.D.); management (E.C., D.S., J.E.B.-W.), analysis (G.I., T.N.H., R.W., J.E.B.-W.), and interpretation of data (G.I., R.W., J.E.B.-W., D.S.) and preparation of manuscript (E.C., G.I., R.W., J.E.B.-W., D.S.). The study protocol adhered to the tenet of the Declaration of Helsinki and was approved by the University of Pennsylvania, the Pennsylvania College of Optometry, and the National Human Genome Research Institute, National Institutes of Health Institutional Review Boards. Informed consent was obtained from the subjects after explanation of the nature and possible consequences of the study.
PY - 2009/3
Y1 - 2009/3
N2 - Purpose: To identify myopia susceptibility genes influencing common myopia in 94 African-American and 36 White families. Design: A prospective study of families with myopia consisting of a minimum of two individuals affected with myopia. Methods: 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. Linkage analyses were conducted with parametric and nonparametric methods. Model-free linkage analysis was performed maximizing over penetrance and over dominance (that is, fitting a wide range of both dominant and recessive models). Results: Under the model-free analysis, the maximum two point heterogeneity logarithm of the odds score (MALOD) was 2.87 at D6S1009 in the White cohort and the maximum multipoint MALOD was 2.42 at D12S373-D12S1042 in the same cohort. The nonparametric linkage (NPL) maximum multipoint at D6S1035 had a P value of .005. An overall multipoint NPL score was obtained by combining NPL scores from both populations. The highest combined NPL score was observed at D20S478 with a significant P value of .008. Suggestive evidence of linkage in the White cohort mapped to a previously mapped locus on chromosome 11 at D11S1981 (NPL = 2.14; P = .02). Conclusions: Suggestive evidence of linkage to myopia in both African Americans and Whites was seen on chromosome 20 and became more significant when the scores were combined for both groups. The locus on chromosome 11 independently confirms a report by Hammond and associates mapping a myopia quantitative trait locus to this region.
AB - Purpose: To identify myopia susceptibility genes influencing common myopia in 94 African-American and 36 White families. Design: A prospective study of families with myopia consisting of a minimum of two individuals affected with myopia. Methods: 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. Linkage analyses were conducted with parametric and nonparametric methods. Model-free linkage analysis was performed maximizing over penetrance and over dominance (that is, fitting a wide range of both dominant and recessive models). Results: Under the model-free analysis, the maximum two point heterogeneity logarithm of the odds score (MALOD) was 2.87 at D6S1009 in the White cohort and the maximum multipoint MALOD was 2.42 at D12S373-D12S1042 in the same cohort. The nonparametric linkage (NPL) maximum multipoint at D6S1035 had a P value of .005. An overall multipoint NPL score was obtained by combining NPL scores from both populations. The highest combined NPL score was observed at D20S478 with a significant P value of .008. Suggestive evidence of linkage in the White cohort mapped to a previously mapped locus on chromosome 11 at D11S1981 (NPL = 2.14; P = .02). Conclusions: Suggestive evidence of linkage to myopia in both African Americans and Whites was seen on chromosome 20 and became more significant when the scores were combined for both groups. The locus on chromosome 11 independently confirms a report by Hammond and associates mapping a myopia quantitative trait locus to this region.
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U2 - 10.1016/j.ajo.2008.09.004
DO - 10.1016/j.ajo.2008.09.004
M3 - Article
C2 - 19026404
AN - SCOPUS:59749103954
SN - 0002-9394
VL - 147
SP - 512-517.e2
JO - American Journal of Ophthalmology
JF - American Journal of Ophthalmology
IS - 3
ER -