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

Feigl, Beatrix, Morris, C. Phillip, Voisey, Joanne, Kwan, Anthony and Zele, Andrew J. (2014) The relationship between BCMO1 gene variants and macular pigment optical density in persons with and without age-related macular degeneration. PLoS ONE, 9 2: 1-6. doi:10.1371/journal.pone.0089069


Author Feigl, Beatrix
Morris, C. Phillip
Voisey, Joanne
Kwan, Anthony
Zele, Andrew J.
Title The relationship between BCMO1 gene variants and macular pigment optical density in persons with and without age-related macular degeneration
Journal name PLoS ONE   Check publisher's open access policy
ISSN 1932-6203
Publication date 2014-02-19
Year available 2014
Sub-type Article (original research)
DOI 10.1371/journal.pone.0089069
Open Access Status DOI
Volume 9
Issue 2
Start page 1
End page 6
Total pages 6
Place of publication San Francisco, United States
Publisher Public Library of Science
Language eng
Formatted 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.
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ

 
Versions
Version Filter Type
Citation counts: TR Web of Science Citation Count  Cited 5 times in Thomson Reuters Web of Science Article | Citations
Scopus Citation Count Cited 5 times in Scopus Article | Citations
Google Scholar Search Google Scholar
Created: Tue, 08 Apr 2014, 10:42:27 EST by System User on behalf of School of Biomedical Sciences