The Relationship between BCMO1 Gene Variants and Macular Pigment Optical Density in Persons with and without Age-Related Macular Degeneration

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.

... 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

... evidence that genotype variants upstream from the BCMO1 gene affect conversion efficiency [39] . Lietz et al. [39] highlight the importance of genotyping exonic, intronic and intergenic BCMO1 SNPs to investigate beta-carotene conversion efficiency. In particular, genotypes for three BCMO1 SNPs (rs11645428, rs6420424 and rs6564851) have been identified, with decreased (rs11645428 GG, rs6420424 AA, rs6564851 GG) and increased (rs11645428 AA, rs6420424 GG, rs6564851 TT) beta-carotene conversion efficiency but the relationship with macular pigment levels was not evaluated in that study [39] . A large observational study demonstrated a strong association between MPOD and the BCMO1 SNP (rs11645428) in a healthy cohort of postmenopausal women [26] . Another recent study confirmed these findings but found the strongest association between MPOD and the BCMO1 SNP rs6564851 [28] . However, this study did not show an association between BCMO1 variants and macular pigment levels after L and Z supplementation. Neither study investigated the combined effect of all three BCMO1 SNPs (rs11645428, rs6420424 and rs6564851) that may act synergistically to alter the catalytic activity of BCMO1 and consequently alter pigment deposition in the macula. Moreover, these studies were performed in healthy participants and BCMO1 effects may not only vary in different populations [39] but also with retinal disease. The aim of this study was therefore to determine the relationship between MPOD and three SNPs (rs11645428 and

... population (healthy participants with no eye disease) and a private practice (patients with age-related macular degeneration) and tested for macular pigment optical density (MPOD). All participants were of European ancestry except for two AMD patients who were of Asian ancestry. Participants were genotyped for the SNPs rs11645428, rs6420424 and rs6564851 upstream of the BCMO1 gene. Of the 44 patients, 20 participants were assigned to the healthy group (mean age 565 yrs, 8 female and 12 male). The healthy

... saliva samples (Oragene DNA self-collection kit, DNA Genotek Inc, Ottawa, Ontario, Canada) according to established procedures used previously in our laboratories [44] , [45] . DNA was then genotyped for the SNPs rs11645428, rs6420424 and rs6564851 commercially at the Australian Genome Research Facility (AGRF) using the Sequenom MassARRAY genotyping system. Statistical Analysis Data were analysed with a statistical package (IBM SPSS Statistics 21). Comparisons between MPOD levels and genotypes were

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