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. 2014 Feb 19;9(2):e89069.
doi: 10.1371/journal.pone.0089069. eCollection 2014.

The relationship between BCMO1 gene variants and macular pigment optical density in persons with and without age-related macular degeneration

Beatrix Feigl  1 , C Phillip Morris  2 , Joanne Voisey  2 , Anthony Kwan  3 , Andrew J Zele  4
Affiliations

The relationship between BCMO1 gene variants and macular pigment optical density in persons with and without age-related macular degeneration

Beatrix Feigl et al. PLoS One. .

Abstract

Background: Recent evidence indicates that gene variants related to carotenoid metabolism play a role in the uptake of macular pigments lutein (L) and zeaxanthin (Z). Moreover, these pigments are proposed to reduce the risk for advanced age-related macular degeneration (AMD). This study provides the initial examination of the relationship between the gene variants related to carotenoid metabolism, macular pigment optical density (MPOD) and their combined expression in healthy humans and patients with AMD.

Participants and methods: Forty-four participants were enrolled from a general population and a private practice including 20 healthy participants and 24 patients with advanced (neovascular) AMD. Participants were genotyped for the three single nucleotide polymorphisms (SNPs) upstream from BCMO1, rs11645428, rs6420424 and rs6564851 that have been shown to either up or down regulate beta-carotene conversion efficiency in the plasma. MPOD was determined by heterochromatic flicker photometry.

Results: Healthy participants with the rs11645428 GG genotype, rs6420424 AA genotype and rs6564851 GG genotype all had on average significantly lower MPOD compared to those with the other genotypes (p<0.01 for all three comparisons). When combining BCMO1 genotypes reported to have "high" (rs11645428 AA/rs6420424 GG/rs6564851 TT) and "low" (rs11645428 GG/rs6420424 AA/rs6564851 GG) beta-carotene conversion efficiency, we demonstrate clear differences in MPOD values (p<0.01). In patients with AMD there were no significant differences in MPOD for any of the three BCMO1 gene variants.

Conclusion: In healthy participants MPOD levels can be related to high and low beta-carotene conversion BCMO1 genotypes. Such relationships were not found in patients with advanced neovascular AMD, indicative of additional processes influencing carotenoid uptake, possibly related to other AMD susceptibility genes. Our findings indicate that specific BCMO1 SNPs should be determined when assessing the effects of carotenoid supplementation on macular pigment and that their expression may be influenced by retinal disease.

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Conflict of interest statement

Competing Interests: The authors have declared that no competing interests exist.

Figures

Figure 1
Figure 1. MPOD as a function of BCMO1 rs11645428 (error bars indicate+SD).
Healthy participants with the GG genotype show on average significantly lower MPOD compared to those with the AA genotype. There were no significant differences between genotypes in the AMD group.
Figure 2
Figure 2. MPOD as a function of BCMO1 rs6420424 (error bars indicate+SD).
Healthy participants with the GG genotype show on average significantly higher MPOD compared to those with the AA genotype. There were no significant differences between genotypes in the AMD group.
Figure 3
Figure 3. MPOD as a function of BCMO1 rs6564851 (error bars indicate+SD).
Healthy participants with the TT genotype show on average significantly higher MPOD compared to those with the GG genotype. There were no significant differences between genotypes in the AMD group.
Figure 4
Figure 4. MPOD as a function of “high conversion” (high) (rs11645428 AA/rs6420424 GG/rs6564851 TT), “low conversion” (low) (rs11645425 GG/rs6420424 AA/rs6564851 GG) and “medium conversion” (medium) (rs11645425/rs6420424/rs6564851 remaining genotypes) triple genotypes (error bars indicate+SD).
Healthy participants with the “high conversion” genotype had significantly higher MPOD compared with the “low conversion” genotype.
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