Candidate gene study of macular response to supplemental lutein and zeaxanthin.
Supplementation with carotenoids is proposed to protect against age-related macular degeneration. There is, however, considerable variability in retinal macular pigment response, which may be due to underlying genetic variation. The purpose of this study was to determine whether genetic factors, which have been previously associated with cross-sectional macular pigment levels in the retina or serum lutein, also influence response to supplementation. To this end we conducted an association study in 310 subjects from the TwinsUK cohort between variants in 8 candidate genes and serum lutein and retinal macular pigment optical density (MPOD) levels before and after supplementation. Four variants were associated with MPOD response to supplementation (p < 0.05): rs11057841 (SCARB1), rs4926339 (RPE65), rs1929841 (ABCA1) and rs174534 (FADS1). We also confirmed previous associations between rs6564851 near BMCO1 (p < 0.001) and rs11057841 within SCARB1 (p = 0.01) and baseline measures of serum lutein; while the latter was also associated with MPOD response, none of the BMCO1 variants were. Finally, there was evidence for association between variants near RPE65 and ELOVL2 and changes in lutein concentration after supplementation. This study is the first to show association between genetic variants and response to carotenoids supplementation. Our findings suggest an important link between MP response and the biological processes of carotenoids transport and fatty acid metabolism.
['Yonova-Doing|Ekaterina|E|', 'Hysi|Pirro G|PG|', 'Venturini|Cristina|C|', 'Williams|Katie M|KM|', 'Nag|Abhishek|A|', 'Beatty|Stephen|S|', 'Liew|S H Melissa|SH|', 'Gilbert|Clare E|CE|', 'Hammond|Christopher J|CJ|']
D064286:ATP Binding Cassette Transporter 1 D000328:Adult D002851:Chromatography, High Pressure Liquid D000090943:Delta-5 Fatty Acid Desaturase D019587:Dietary Supplements D044943:Fatty Acid Desaturases D005260:Female D014644:Genetic Variation D005838:Genotype D006801:Humans D014975:Lutein D008875:Middle Aged D020641:Polymorphism, Single Nucleotide D011446:Prospective Studies D019655:Quantitative Trait, Heritable D012168:Retinal Pigments D051122:Scavenger Receptors, Class B D014429:Twins, Dizygotic D014430:Twins, Monozygotic D024341:Xanthophylls D055815:Young Adult D065146:Zeaxanthins D019745:cis-trans-Isomerases
supplementation lutein lutein and zeaxanthin zeaxanthin macular degeneration macular pigment genetics macular pigment optical density MPOD MP CAREDS Carotenoids in Age Related Eye Disease Study L LZ Z