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The association between macular pigment optical density and CFH, ARMS2, C2/BF, and C3 genotype


Loane E, Nolan JM, McKay GJ, Beatty S

Subject Keywords: Nutrition, Ageing, Older People, Mental Health, Alzheimer's Disease
Catalogue: Systematic Reviews
Type: Report
Region: Republic of Ireland

Age-related macular degeneration (AMD) is the most common cause of blindness in older people indeveloped countries, and risk for this condition may be classified as genetic or environmental, with aninteraction between such factors predisposing to this disease. This study investigated the relationshipbetween AMD risk genes, macular pigment optical density (MPOD), which may protect against AMD, andserum concentrations of the macular carotenoids, lutein (L) and zeaxanthin (Z). This was a cross-sectionalstudy of 302 healthy adult subjects. Dietary intake of L and Z was assessed by food frequency question-naire, and MPOD was measured by customized heterochromaticflicker photometry. We also calculatedMPOD Area as the area of MP under the spatial profile curve, to reflect MP across the macula. Serum L and Zwere measured by HPLC. Genotyping of tag SNPs in the genesCFH,ARMS2,C3,C2andBFwas undertakenwith multiplex polymerase chain reaction (PCR) and primer extension methodology (ABI Snapshot, ABIWarrington UK) on DNA extracted from peripheral blood. The mean!SD (range) age of the subjects in thisstudy was 48!11 (21e66) years. There was a statistically significant association betweenCFHgenotypeand family history of AMD, with subjects having two non-riskCFHhaplotypes (n¼35), or one non-risk andone protectiveCFHhaplotype (n¼33), being significantly more likely to have a negative family history ofAMD (Pearson Chi square:p¼0.001). There was no significant association between the AMD risk genesinvestigated and either MPOD (One way ANOVA:p>0.05) or serum concentrations of L or Z (One wayANOVA:p>0.05, for both). Subjects who were homozygous for risk alleles of bothCFHandARMS2(n¼4)had significantly lower MPOD at 0.5and 1retinal eccentricity (Independent samplesttest:p<0.05)and lower MPOD Area which approached statistical significance (Independent samplesttest:p¼0.058),compared to other subjects (n¼291). In conclusion, this study did not detect an associationbetween individual AMD risk genotypes and the putatively protective MP, or serum concentrations ofits constituent carotenoids. However, the combination of homozygous risk alleles at bothCFHandARMS2loci was associated with significantly lower MPOD centrally, despite comparable serum concentrations ofthe macular carotenoids. Thesefindings suggest that the maculae of subjects at very high genetic risk ofAMD represent a hostile environment for accumulation and/or stabilization of MP.



Rights: © Public
Suggested citation:

Loane E, Nolan JM, McKay GJ, Beatty S. (2011) The association between macular pigment optical density and CFH, ARMS2, C2/BF, and C3 genotype [Online]. Available from: [Accessed: 15th September 2019].


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