Journal article
Genetic determinants of macular pigments in women of the Carotenoids in Age-Related Eye Disease Study
Investigative ophthalmology & visual science, Vol.54(3), pp.2333-2345
03/28/2013
DOI: 10.1167/iovs.12-10867
PMCID: PMC3626525
PMID: 23404124
Abstract
To investigate genetic determinants of macular pigment optical density in women from the Carotenoids in Age-Related Eye Disease Study (CAREDS), an ancillary study of the Women's Health Initiative Observational Study. 1585 of 2005 CAREDS participants had macular pigment optical density (MPOD) measured noninvasively using customized heterochromatic flicker photometry and blood samples genotyped for 440 single nucleotide polymorphisms (SNPs) in 26 candidate genes related to absorption, transport, binding, and cleavage of carotenoids directly, or via lipid transport. SNPs were individually tested for associations with MPOD using least-squares linear regression. Twenty-one SNPs from 11 genes were associated with MPOD (P ≤ 0.05) after adjusting for dietary intake of lutein and zeaxanthin. This includes variants in or near genes related to zeaxanthin binding in the macula (GSTP1), carotenoid cleavage (BCMO1), cholesterol transport or uptake (SCARB1, ABCA1, ABCG5, and LIPC), long-chain omega-3 fatty acid status (ELOVL2, FADS1, and FADS2), and various maculopathies (ALDH3A2 and RPE65). The strongest association was for rs11645428 near BCMO1 (βA = 0.029, P = 2.2 × 10(-4)). Conditional modeling within genes and further adjustment for other predictors of MPOD, including waist circumference, diabetes, and dietary intake of fiber, resulted in 13 SNPs from 10 genes maintaining independent association with MPOD. Variation in these single gene polymorphisms accounted for 5% of the variability in MPOD (P = 3.5 × 10(-11)). Our results support that MPOD is a multi-factorial phenotype associated with variation in genes related to carotenoid transport, uptake, and metabolism, independent of known dietary and health influences on MPOD.
Details
- Title: Subtitle
- Genetic determinants of macular pigments in women of the Carotenoids in Age-Related Eye Disease Study
- Creators
- Kristin J Meyers - Department of Ophthalmology and Visual Sciences, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin 53726, USAElizabeth J JohnsonPaul S BernsteinSudha K IyengarCorinne D EngelmanChitra K KarkiZhe LiuRobert P Igo JrBarbara TruittMichael L KleinD Max SnodderlyBarbara A BlodiKaren M GehrsGloria E SartoRobert B WallaceJennifer RobinsonErin S LeBlancGregory HagemanLesley TinkerJulie A Mares
- Resource Type
- Journal article
- Publication Details
- Investigative ophthalmology & visual science, Vol.54(3), pp.2333-2345
- DOI
- 10.1167/iovs.12-10867
- PMID
- 23404124
- PMCID
- PMC3626525
- NLM abbreviation
- Invest Ophthalmol Vis Sci
- ISSN
- 0146-0404
- eISSN
- 1552-5783
- Publisher
- United States
- Grant note
- HHSN268201100002I / NHLBI NIH HHS HHSN271201100004C / NIA NIH HHS HHSN268201100046C / PHS HHS HHSN268201100001C / WHI NIH HHS HHSN268201100004I / NHLBI NIH HHS R01 EY021532 / NEI NIH HHS P30 EY014800 / NEI NIH HHS EY016886 / NEI NIH HHS R01 EY016886 / NEI NIH HHS EY013018 / NEI NIH HHS HHSN271201100004C / PHS HHS HHSN268201100003C / PHS HHS R01 EY011600 / NEI NIH HHS HHSN268201100004C / WHI NIH HHS HHSN268201100046C / NHLBI NIH HHS U10 EY013018 / NEI NIH HHS HHSN268201100002C / WHI NIH HHS HHSN268201100001I / NHLBI NIH HHS HHSN268201100004C / PHS HHS EY011600 / NEI NIH HHS HHSN268201100002C / PHS HHS HHSN268201100003C / WHI NIH HHS HHSN268201100001C / PHS HHS R29 EY011600 / NEI NIH HHS
- Language
- English
- Date published
- 03/28/2013
- Academic Unit
- Epidemiology; Injury Prevention Research Center; Internal Medicine; Ophthalmology and Visual Sciences
- Record Identifier
- 9983980027702771
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