TY - JOUR
T1 - Clinical Phenotypes Associated with the Complement Factor H Y402H Variant in Age-related Macular Degeneration
AU - Brantley, Milam A.
AU - Edelstein, Sean L.
AU - King, Jennifer M.
AU - Apte, Rajendra S.
AU - Kymes, Steven M.
AU - Shiels, Alan
N1 - Funding Information:
This study was supported by grant EY12284 from the National Eye Institute, National Institutes of Health, Bethesda, Maryland. The authors indicate no financial conflict of interest. Involved in the design of study (M.A.B., S.L.E., R.S.A., S.M.K., A.S.); conduct of study (M.A.B., S.L.E., J.M.K., R.S.A., S.M.K., A.S.); collection of the data (M.A.B., S.L.E., J.M.K., R.S.A.); management and analysis and interpretation of the data (M.A.B., S.L.E., J.M.K., R.S.A., S.M.K., A.S.); preparation of the manuscript (M.A.B., S.M.K., A.S.); and review and approval of the manuscript (M.A.B., S.L.E., J.M.K., R.S.A., S.M.K., A.S.). This study was approved by the Washington University Human Research Protection Office and the Barnes Retina Institute Study Center and was conducted in accordance with Health Insurance Portability and Accountability Act regulations. All participants were enrolled from the clinical offices of the Barnes Retina Institute and signed written informed consent before participation.
PY - 2007/9
Y1 - 2007/9
N2 - Purpose: To determine whether the complement factor H (CFH) Y402H variant is associated with specific age-related macular degeneration (AMD) clinical phenotypes. Design: Retrospective, case-control study. Methods: One hundred and eighty-eight white subjects with AMD and 189 control subjects were genotyped for the T-to-C polymorphism in exon 9 of the CFH gene by restriction-fragment length analysis and deoxyribonucleic acid (DNA) sequencing using genomic DNA from mouthwash samples. AMD phenotypes were characterized by clinical examination, fundus photography, and fluorescein angiography. Results: Heterozygosity for the at-risk genotype (TC) increased the likelihood for AMD 2.1-fold (95% confidence interval [CI], 1.3 to 3.3), whereas homozygosity for the genotype (CC) increased the likelihood for AMD 6.5-fold (95% CI, 3.4 to 12.5) in our population. The C allele was associated significantly with predominantly classic choroidal neovascularization (odds ratio [OR], 2.01; 95% CI, 1.34 to 3.30). Neovascular lesion size was similar among the three genotypes (P = .67). Conclusions: The Y402H CFH variant carried a significantly increased risk for developing AMD in our population. Genotype and phenotype correlations regarding choroidal neovascular lesion type were observed.
AB - Purpose: To determine whether the complement factor H (CFH) Y402H variant is associated with specific age-related macular degeneration (AMD) clinical phenotypes. Design: Retrospective, case-control study. Methods: One hundred and eighty-eight white subjects with AMD and 189 control subjects were genotyped for the T-to-C polymorphism in exon 9 of the CFH gene by restriction-fragment length analysis and deoxyribonucleic acid (DNA) sequencing using genomic DNA from mouthwash samples. AMD phenotypes were characterized by clinical examination, fundus photography, and fluorescein angiography. Results: Heterozygosity for the at-risk genotype (TC) increased the likelihood for AMD 2.1-fold (95% confidence interval [CI], 1.3 to 3.3), whereas homozygosity for the genotype (CC) increased the likelihood for AMD 6.5-fold (95% CI, 3.4 to 12.5) in our population. The C allele was associated significantly with predominantly classic choroidal neovascularization (odds ratio [OR], 2.01; 95% CI, 1.34 to 3.30). Neovascular lesion size was similar among the three genotypes (P = .67). Conclusions: The Y402H CFH variant carried a significantly increased risk for developing AMD in our population. Genotype and phenotype correlations regarding choroidal neovascular lesion type were observed.
UR - http://www.scopus.com/inward/record.url?scp=34548257195&partnerID=8YFLogxK
U2 - 10.1016/j.ajo.2007.05.018
DO - 10.1016/j.ajo.2007.05.018
M3 - Article
C2 - 17631852
AN - SCOPUS:34548257195
SN - 0002-9394
VL - 144
SP - 404-408.e1
JO - American journal of ophthalmology
JF - American journal of ophthalmology
IS - 3
ER -