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The relationship between macular pigment optical density and ApoE genotype
Author(s) -
LOANE E,
NOLAN JM,
MCKAY G,
STACK J,
BEATTY S
Publication year - 2008
Publication title -
acta ophthalmologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.534
H-Index - 87
eISSN - 1755-3768
pISSN - 1755-375X
DOI - 10.1111/j.1755-3768.2008.642.x
Subject(s) - genotype , family history , genotyping , medicine , international hapmap project , allele , population , ophthalmology , demography , genetics , biology , environmental health , sociology , gene
Purpose To investigate the relationship between macular pigment optical density (MPOD) and ApoE genotype in healthy subjects with and without a family history of age‐related maculopathy (ARM). Methods We recruited 336 subjects for this study. Demographic and health details were recorded. MPOD was measured by customised heterochromatic flicker photometry using the Macular Densitometer. Genotype data was downloaded from HapMap for the CEU population. Genotyping was performed using SNaPshot assays on an ABI 3100 genetic analyser. Results 4 subjects did not meet our analysis criteria and were excluded. Genotype data were available on 94.3% of our sample. 62.6% of subjects had the ε3ε3 genotype (non‐risk); 25.2% had at least 1 ε4 (protective) allele; 12.7% had at least 1 ε2 (risk) allele. Only 1 subject had the ε2ε2 genotype; this subject had a family history of ARM. Of the 8 subjects with the ε4ε4 genotype, only 2 had a family history of ARM. There was no significant difference in the remaining genotype distribution between subjects with and without a family history of ARM. We divided our sample into 3 genotype groups: Group 1: ε2ε2 or ε2ε3 (n=38); Group 2: ε3ε3 (n=194); Group 3: ε2ε4, ε3ε4 or ε4ε4 (n=78). There was a statistically significant difference in peak MPOD between these groups: Group 3 had the highest mean MPOD; Group 1 had the lowest (p=0.002). This significant association remained after controlling for age, sex, BMI, family history of ARM, smoking, alcohol intake, dietary and serum lutein and zeaxanthin. Conclusion The presence of the Apo ε4 allele appears to be associated with higher MPOD values in healthy subjects. The importance of this finding rests on the fact that the Apo ε4 allele is protective against ARM.Commercial interest