Asleh Saleh Abu, Lederman Michal, Weinstein Orly, Horowitz Smadar, Meir Tal, Lahad Amnon, Goldstein Nurit, Sharon Dror, Israel Shoshana, Chowers Itay
Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Ophthalmic Genet. 2009 Dec;30(4):161-4. doi: 10.3109/13816810903147998.
Altered iron metabolism and transferrin expression were associated with neurodegenerations including age-related macular degeneration (AMD) and Alzheimer's disease (AD). Carriers of transferrin C2 allele alone or in combination with the hemochromatosis C282Y variant may have increased risk for developing AD. We aim to assess if these alleles also predispose to AMD.
DNA was collected from 290 AMD patients and 157 unaffected, age-matched, controls. Genotyping was performed for transferrin C1/C2 alleles and hemochromatosis C282Y allele, and association with AMD was evaluated.
There was no association between the C1/C2 transferrin alleles and AMD. Hemochromatosis C282Y variant was identified in four individuals; one was an AMD patient and three were unaffected.
Transferrin C2 and hemochromatosis C282Y alleles are not associated with increased risk for developing AMD in Israel.
铁代谢改变和转铁蛋白表达与包括年龄相关性黄斑变性（AMD）和阿尔茨海默病（AD）在内的神经退行性疾病相关。单独携带转铁蛋白C2等位基因或与血色素沉着症C282Y变体组合携带的个体患AD的风险可能增加。我们旨在评估这些等位基因是否也易患AMD。
从290例AMD患者和157例年龄匹配的未受影响对照中收集DNA。对转铁蛋白C1/C2等位基因和血色素沉着症C282Y等位基因进行基因分型，并评估其与AMD的相关性。
C1/C2转铁蛋白等位基因与AMD之间无相关性。在4例个体中鉴定出血色素沉着症C282Y变体；1例为AMD患者，3例未受影响。
在以色列，转铁蛋白C2和血色素沉着症C282Y等位基因与患AMD风险增加无关。
