ATP binding cassette transporter retina genotypes and age related macular degeneration: an analysis on exudative non-familial Japanese patients

Aim-To determine whether mutations in the Stargardt's disease gene, ATP binding cassette transporter retina (ABCR) affect the occurrence of age related macular degeneration (AMD) in Japanese nonfamilial patients. Methods-80 unrelated Japanese patients with AMD (67 males and 13 females; mean age, 67.2 years) diagnosed by indocyanine green angiography and 100 age matched control subjects were studied. Among the AMD patients, 70 (87.5%) had choroidal neovascularisation of exudative type. Genomic DNA was purified from the total blood and 10 exons (exons 11, 23, 29, 32, 34, 37, 41, 43, 44, and 49) that have been reported to contain AMD associated mutations were amplified by polymerase chain reaction (PCR). The amplicons were analysed by the single strand conformation polymorphism (SSCP) method. The nucleotide sequencing of the amplicons was determined when necessary. Results-Of the 10 exons, aberrant patterns of SSCP were detected in three exons-exons 29, 41, and 43. In exon 29, an aberrant pattern was found in seven of 80 patients (8.8%) and eight of 100 controls (8%). Sequencing of the PCR products revealed a heterozygous T1428M mutation which has been previously reported as one of the AMD associated mutations. Statistical analysis showed that there was no significant difference in the occurrence of this mutation between these AMD patients and the control groups (p = 0.86). In exons 23, 41, and 43, polymorphisms and sequence variations were found. Conclusion-No data to support the association between the ABCR gene mutations and AMD of Japanese patients, especially that of the exudative type, were obtained in this molecular genetic analysis.