Genetic determinants of macular pigments in women the carotenoids in age-related eye disease study

Kristin J. Meyers, Elizabeth J. Johnson, Paul S. Bernstein, Sudha K. Iyengar, Corinne D. Engelman, Chitra K. Karki, Zhe Liu, Robert P. Igo, Barbara Truitt, Michael Klein, D. Max Snodderly, Barbara A. Blodi, Karen M. Gehrs, Gloria E. Sarto, Robert B. Wallace, Jennifer Robinson, Erin S. LeBlanc, Gregory Hageman, Lesley Tinker, Julie A. Mares

Research output: Contribution to journalArticle

47 Citations (Scopus)

Abstract

PURPOSE. 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. METHODS. 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. RESULTS. 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 (bA=0.029, P=2.2 3 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 3 10*11). CONCLUSIONS. 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.

Original languageEnglish (US)
Pages (from-to)2333-2345
Number of pages13
JournalInvestigative Ophthalmology and Visual Science
Volume54
Issue number3
DOIs
StatePublished - 2013

Fingerprint

Eye Diseases
Carotenoids
Single Nucleotide Polymorphism
Genes
Photometry
Macular Pigment
Lutein
Omega-3 Fatty Acids
Dietary Fiber
Waist Circumference
Women's Health
Least-Squares Analysis
Observational Studies
Linear Models
Cholesterol
Phenotype
Lipids
Health

ASJC Scopus subject areas

  • Ophthalmology
  • Sensory Systems
  • Cellular and Molecular Neuroscience

Cite this

Meyers, K. J., Johnson, E. J., Bernstein, P. S., Iyengar, S. K., Engelman, C. D., Karki, C. K., ... Mares, J. A. (2013). Genetic determinants of macular pigments in women the carotenoids in age-related eye disease study. Investigative Ophthalmology and Visual Science, 54(3), 2333-2345. https://doi.org/10.1167/iovs.12-10867

Genetic determinants of macular pigments in women the carotenoids in age-related eye disease study. / Meyers, Kristin J.; Johnson, Elizabeth J.; Bernstein, Paul S.; Iyengar, Sudha K.; Engelman, Corinne D.; Karki, Chitra K.; Liu, Zhe; Igo, Robert P.; Truitt, Barbara; Klein, Michael; Snodderly, D. Max; Blodi, Barbara A.; Gehrs, Karen M.; Sarto, Gloria E.; Wallace, Robert B.; Robinson, Jennifer; LeBlanc, Erin S.; Hageman, Gregory; Tinker, Lesley; Mares, Julie A.

In: Investigative Ophthalmology and Visual Science, Vol. 54, No. 3, 2013, p. 2333-2345.

Research output: Contribution to journalArticle

Meyers, KJ, Johnson, EJ, Bernstein, PS, Iyengar, SK, Engelman, CD, Karki, CK, Liu, Z, Igo, RP, Truitt, B, Klein, M, Snodderly, DM, Blodi, BA, Gehrs, KM, Sarto, GE, Wallace, RB, Robinson, J, LeBlanc, ES, Hageman, G, Tinker, L & Mares, JA 2013, 'Genetic determinants of macular pigments in women the carotenoids in age-related eye disease study', Investigative Ophthalmology and Visual Science, vol. 54, no. 3, pp. 2333-2345. https://doi.org/10.1167/iovs.12-10867
Meyers, Kristin J. ; Johnson, Elizabeth J. ; Bernstein, Paul S. ; Iyengar, Sudha K. ; Engelman, Corinne D. ; Karki, Chitra K. ; Liu, Zhe ; Igo, Robert P. ; Truitt, Barbara ; Klein, Michael ; Snodderly, D. Max ; Blodi, Barbara A. ; Gehrs, Karen M. ; Sarto, Gloria E. ; Wallace, Robert B. ; Robinson, Jennifer ; LeBlanc, Erin S. ; Hageman, Gregory ; Tinker, Lesley ; Mares, Julie A. / Genetic determinants of macular pigments in women the carotenoids in age-related eye disease study. In: Investigative Ophthalmology and Visual Science. 2013 ; Vol. 54, No. 3. pp. 2333-2345.
@article{7183dd53348d426aa8bd95fa7afe278f,
title = "Genetic determinants of macular pigments in women the carotenoids in age-related eye disease study",
abstract = "PURPOSE. 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. METHODS. 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. RESULTS. 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 (bA=0.029, P=2.2 3 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 3 10*11). CONCLUSIONS. 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.",
author = "Meyers, {Kristin J.} and Johnson, {Elizabeth J.} and Bernstein, {Paul S.} and Iyengar, {Sudha K.} and Engelman, {Corinne D.} and Karki, {Chitra K.} and Zhe Liu and Igo, {Robert P.} and Barbara Truitt and Michael Klein and Snodderly, {D. Max} and Blodi, {Barbara A.} and Gehrs, {Karen M.} and Sarto, {Gloria E.} and Wallace, {Robert B.} and Jennifer Robinson and LeBlanc, {Erin S.} and Gregory Hageman and Lesley Tinker and Mares, {Julie A.}",
year = "2013",
doi = "10.1167/iovs.12-10867",
language = "English (US)",
volume = "54",
pages = "2333--2345",
journal = "Investigative Ophthalmology and Visual Science",
issn = "0146-0404",
publisher = "Association for Research in Vision and Ophthalmology Inc.",
number = "3",

}

TY - JOUR

T1 - Genetic determinants of macular pigments in women the carotenoids in age-related eye disease study

AU - Meyers, Kristin J.

AU - Johnson, Elizabeth J.

AU - Bernstein, Paul S.

AU - Iyengar, Sudha K.

AU - Engelman, Corinne D.

AU - Karki, Chitra K.

AU - Liu, Zhe

AU - Igo, Robert P.

AU - Truitt, Barbara

AU - Klein, Michael

AU - Snodderly, D. Max

AU - Blodi, Barbara A.

AU - Gehrs, Karen M.

AU - Sarto, Gloria E.

AU - Wallace, Robert B.

AU - Robinson, Jennifer

AU - LeBlanc, Erin S.

AU - Hageman, Gregory

AU - Tinker, Lesley

AU - Mares, Julie A.

PY - 2013

Y1 - 2013

N2 - PURPOSE. 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. METHODS. 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. RESULTS. 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 (bA=0.029, P=2.2 3 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 3 10*11). CONCLUSIONS. 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.

AB - PURPOSE. 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. METHODS. 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. RESULTS. 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 (bA=0.029, P=2.2 3 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 3 10*11). CONCLUSIONS. 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.

UR - http://www.scopus.com/inward/record.url?scp=84875636747&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84875636747&partnerID=8YFLogxK

U2 - 10.1167/iovs.12-10867

DO - 10.1167/iovs.12-10867

M3 - Article

C2 - 23404124

AN - SCOPUS:84875636747

VL - 54

SP - 2333

EP - 2345

JO - Investigative Ophthalmology and Visual Science

JF - Investigative Ophthalmology and Visual Science

SN - 0146-0404

IS - 3

ER -