Susceptibility to advanced age-related macular degeneration and alleles of complement factor H, complement factor B, complement component 2, complement component 3, and age-rela
Por:
Buentello-Volante B., Rodriguez-Ruiz G., Miranda-Duarte A., Pompa-Mera E.N., Graue-Wiechers F., Bekker-Méndez C., Ayala-Ramirez R., Quezada C., Rodríguez-Loaiza J.L., Zenteno J.C.
Publicada:
11 oct 2012
Categoría:
Ophthalmology
Resumen:
Purpose: To investigate the association of age-related macular degeneration (AMD)-high risk alleles of the complement factor H (CFH), complement factor B (CFB), complement component 2 (C2), complement component 3 (C3), and age-related maculopathy susceptibility 2 (ARMS2) genes in a Mexican population for the first time. Methods: Genotyping was performed for the Y402H variant of CFH, for the L9H, R32Q, and K565E variants of CFB, the E318D variant of C2, the A69S variant of ARMS2, and the R102G variant of C3 in 159 Mexican mestizo patients at advanced stages of AMD, i.e., CARMS (Clinical Age-Related Maculopathy Staging System) grade 4 or 5. The frequency of these variants was also investigated in a group of 152 control subjects without AMD. Genomic DNA was extracted from blood leukocytes, and genotyping was performed using PCR followed by direct sequencing. Allele-specific restriction enzyme digestion was used to detect the R102G polymorphism in C3. Results: There were significant differ
Filiaciones:
Buentello-Volante B.:
Department of Genetics and Research Unit, Institute of Ophthalmology 'Conde de Valenciana', Chimalpopoca #14, Col. Obrera, Mexico City, 06800, Mexico
Rodriguez-Ruiz G.:
Department of Genetics and Research Unit, Institute of Ophthalmology 'Conde de Valenciana', Chimalpopoca #14, Col. Obrera, Mexico City, 06800, Mexico
Miranda-Duarte A.:
Department of Genetics, National Rehabilitation Institute, Mexico City, Mexico
Pompa-Mera E.N.:
Unidad de Investigación Médica en Inmunología e Infectología, Hospital de Infectología, Centro Médico Nacional La Raza, IMSS, Mexico City, Mexico
Graue-Wiechers F.:
Retina Department, Institute of Ophthalmology 'Conde de Valenciana' Mexico City, Mexico
Bekker-Méndez C.:
Unidad de Investigación Médica en Inmunología e Infectología, Hospital de Infectología, Centro Médico Nacional La Raza, IMSS, Mexico City, Mexico
Ayala-Ramirez R.:
Retina Department, Institute of Ophthalmology 'Conde de Valenciana' Mexico City, Mexico
Quezada C.:
Retina Department, Institute of Ophthalmology 'Conde de Valenciana' Mexico City, Mexico
Rodríguez-Loaiza J.L.:
Retina Department, Institute of Ophthalmology 'Conde de Valenciana' Mexico City, Mexico
Zenteno J.C.:
Univ Nacl Autonoma Mexico, Fac Med, Dept Biochem, Mexico City 04510, DF, Mexico
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