Heritability of macular pigment: a twin study.

PURPOSE Several studies have reported higher levels of macular pigment (MP) in association with reduced risk for age-related macular degeneration (ARMD), a disease to which there is a genetic predisposition. A classic twin study was performed to determine the heritability of MP in the healthy eye. METHODS One hundred fifty twin pairs (76 monozygotic [MZ] and 74 dizygotic [DZ]), aged 18 to 50 years, participated. MP optical density was measured psychophysically with heterochromatic flicker photometry (HFP) and also with an imaging method involving fundus autofluorescence (AF). The covariance of MP within MZ and DZ twin pairs was compared, and genetic modeling techniques were used to determine the relative contributions of genes and environment to the variation in MP. RESULTS The mean MP optical density, measured using HFP, was 0.43 +/- 0.21. Using AF, the mean MP optical density, measured at 1 degrees eccentricity, was 0.28 +/- 0.11. MP optical densities correlated more highly in MZ twins than in DZ twins, according to both HFP (MZ: 0.65; DZ: 0.24) and AF (MZ: 0.83; DZ: 0.50). A model combining additive genetic and unique environmental effects provided the best fit and resulted in MP heritability estimates of 0.67 (95% CI, 0.52-0.77) and 0.85 (95% CI, 0.78-0.90) for HFP and AF readings, respectively. CONCLUSIONS This classic twin study demonstrates that genetic background is an important determinant of MP optical density, reflected in heritability estimates of 0.67 and 0.85 for HFP and AF measures, respectively.

[1]  A. Edwards,et al.  Complement Factor H Polymorphism and Age-Related Macular Degeneration , 2005, Science.

[2]  J. Ott,et al.  Complement Factor H Polymorphism in Age-Related Macular Degeneration , 2005, Science.

[3]  Johanna M Seddon,et al.  The US twin study of age-related macular degeneration: relative roles of genetic and environmental influences. , 2005, Archives of ophthalmology.

[4]  Richard A. Bone,et al.  Macular pigment and the edge hypothesis of flicker photometry , 2004, Vision Research.

[5]  Paul S Bernstein,et al.  Identification and Characterization of a Pi Isoform of Glutathione S-Transferase (GSTP1) as a Zeaxanthin-binding Protein in the Macula of the Human Eye* , 2004, Journal of Biological Chemistry.

[6]  S. Beatty,et al.  Macular pigment and percentage of body fat. , 2004, Investigative ophthalmology & visual science.

[7]  François C Delori,et al.  Autofluorescence method to measure macular pigment optical densities fluorometry and autofluorescence imaging. , 2004, Archives of biochemistry and biophysics.

[8]  S. Beatty,et al.  Macular pigment optical density and its relationship with serum and dietary levels of lutein and zeaxanthin. , 2004, Archives of biochemistry and biophysics.

[9]  M. Boulton,et al.  Do blue light filters confer protection against age-related macular degeneration? , 2004, Progress in Retinal and Eye Research.

[10]  W. Willett,et al.  Prospective study of intake of fruits, vegetables, vitamins, and carotenoids and risk of age-related maculopathy. , 2004, Archives of ophthalmology.

[11]  S. Beatty,et al.  Percentage Body Fat and Macular Pigment Optical Density , 2004 .

[12]  R. Bone,et al.  Biologic mechanisms of the protective role of lutein and zeaxanthin in the eye. , 2003, Annual review of nutrition.

[13]  S. Santangelo,et al.  A genomewide scan for age-related macular degeneration provides evidence for linkage to several chromosomal regions. , 2003, American journal of human genetics.

[14]  S. Wolf,et al.  Macular pigment density in healthy subjects quantified with a modified confocal scanning laser ophthalmoscope , 2003, Graefe's Archive for Clinical and Experimental Ophthalmology.

[15]  Fred W. Fitzke,et al.  Macular pigment density and distribution: comparison of fundus autofluorescence with minimum motion photometry , 2003, Vision Research.

[16]  David I W Phillips,et al.  Lutein and zeaxanthin status and risk of age-related macular degeneration. , 2003, Investigative ophthalmology & visual science.

[17]  T. Berendschot,et al.  Lens aging in relation to nutritional determinants and possible risk factors for age-related cataract. , 2002, Archives of ophthalmology.

[18]  Harold Snieder,et al.  Genetic influence on early age-related maculopathy: a twin study. , 2002, Ophthalmology.

[19]  J Mellerio,et al.  A portable instrument for measuring macular pigment with central fixation , 2002, Current eye research.

[20]  B. Hammond,et al.  Relation between dietary intake, serum concentrations, and retinal concentrations of lutein and zeaxanthin in adults in a Midwest population. , 2001, The American journal of clinical nutrition.

[21]  T. Spector,et al.  Are Twins and Singletons Comparable? A Study of Disease-related and Lifestyle Characteristics in Adult Women , 2001, Twin Research.

[22]  C K Dorey,et al.  Age-related accumulation and spatial distribution of lipofuscin in RPE of normal subjects. , 2001, Investigative ophthalmology & visual science.

[23]  T. Spector,et al.  Genetic and Environmental Influences on Lipids, Lipoproteins, and Apolipoproteins: Effects of Menopause , 2001, Arteriosclerosis, thrombosis, and vascular biology.

[24]  S A Burns,et al.  Macular pigment density measured by autofluorescence spectrometry: comparison with reflectometry and heterochromatic flicker photometry. , 2001, Journal of the Optical Society of America. A, Optics, image science, and vision.

[25]  P. Bernstein,et al.  Ligand-binding characterization of xanthophyll carotenoids to solubilized membrane proteins derived from human retina. , 2001, Experimental eye research.

[26]  R P Danis,et al.  Macular pigment optical density in a midwestern sample. , 2001, Ophthalmology.

[27]  D Carden,et al.  Macular pigment and risk for age-related macular degeneration in subjects from a Northern European population. , 2001, Investigative ophthalmology & visual science.

[28]  R. Bone,et al.  Lutein and zeaxanthin in the eyes, serum and diet of human subjects. , 2000, Experimental eye research.

[29]  M. Boulton,et al.  The role of oxidative stress in the pathogenesis of age-related macular degeneration. , 2000, Survey of ophthalmology.

[30]  B. Hammond,et al.  Macular pigment optical density in a Southwestern sample. , 2000, Investigative ophthalmology & visual science.

[31]  S. Beatty,et al.  Macular pigment optical density measurement: a novel compact instrument. , 2000, Ophthalmic & physiological optics : the journal of the British College of Ophthalmic Opticians.

[32]  M. Boulton,et al.  Macular pigment and age related macular degeneration , 1999, The British journal of ophthalmology.

[33]  A. Young,et al.  Carotenoid Composition and Antioxidant Potential in Subfractions of Human Low-Density Lipoprotein , 1999, Annals of clinical biochemistry.

[34]  H. Bickeböller,et al.  Genetic control of lipoprotein(a) concentrations is different in Africans and Caucasians , 1999, European Journal of Human Genetics.

[35]  O. Sommerburg,et al.  Fruits and vegetables that are sources for lutein and zeaxanthin: the macular pigment in human eyes , 1998, The British journal of ophthalmology.

[36]  F. Khachik,et al.  Identification of lutein and zeaxanthin oxidation products in human and monkey retinas. , 1997, Investigative ophthalmology & visual science.

[37]  D. Snodderly,et al.  Dietary modification of human macular pigment density. , 1997, Investigative ophthalmology & visual science.

[38]  D M Snodderly,et al.  Individual variations in the spatial profile of human macular pigment. , 1997, Journal of the Optical Society of America. A, Optics, image science, and vision.

[39]  D. Snodderly,et al.  Cigarette Smoking and Retinal Carotenoids: Implications for Age-related Macular Degeneration , 1996, Vision Research.

[40]  D. Snodderly,et al.  Sex Differences in Macular Pigment Optical Density: Relation to Plasma Carotenoid Concentrations and Dietary Patterns , 1996, Vision Research.

[41]  D M Snodderly,et al.  Iris color and macular pigment optical density. , 1996, Experimental eye research.

[42]  D M Snodderly,et al.  Evidence for protection against age-related macular degeneration by carotenoids and antioxidant vitamins. , 1995, The American journal of clinical nutrition.

[43]  B. Hammond,et al.  Macular pigment density in monozygotic twins. , 1995, Investigative ophthalmology & visual science.

[44]  C K Dorey,et al.  In vivo fluorescence of the ocular fundus exhibits retinal pigment epithelium lipofuscin characteristics. , 1995, Investigative ophthalmology & visual science.

[45]  R Hiller,et al.  Dietary carotenoids, vitamins A, C, and E, and advanced age-related macular degeneration. Eye Disease Case-Control Study Group. , 1994, JAMA.

[46]  Lawrence A. Yannuzzi,et al.  Dietary Carotenoids, Vitamins A, C, and E, and Advanced Age-Related Macular Degeneration , 1994 .

[47]  A. Thapar,et al.  Methodology for Genetic Studies of Twins and Families , 1993 .

[48]  R. Klein,et al.  Prevalence of age-related maculopathy. The Beaver Dam Eye Study. , 1992, Ophthalmology.

[49]  R. Bone,et al.  Analysis of the macular pigment by HPLC: retinal distribution and age study. , 1988, Investigative ophthalmology & visual science.

[50]  E. Dratz,et al.  Carotenoids in the human macula and whole retina. , 1988, Investigative ophthalmology & visual science.

[51]  R. Kliegl,et al.  Aging and human macular pigment density Appended with translations from the work of Max Schultze and Ewald Hering , 1987, Vision Research.

[52]  Anthony J. Adams,et al.  Optical density of human macular pigment , 1987, Vision Research.

[53]  Richard A. Bone,et al.  Preliminary identification of the human macular pigment , 1985, Vision Research.

[54]  D M Snodderly,et al.  The macular pigment. I. Absorbance spectra, localization, and discrimination from other yellow pigments in primate retinas. , 1984, Investigative ophthalmology & visual science.

[55]  F. Delori,et al.  The macular pigment. II. Spatial distribution in primate retinas. , 1984, Investigative ophthalmology & visual science.

[56]  M. Klein,et al.  Diet-related macular anomalies in monkeys. , 1980, Investigative ophthalmology & visual science.

[57]  N. Martin,et al.  The inheritance of scholastic abilities in a sample of twins I. Ascertainment of the sample and diagnosis of zygosity , 1975, Annals of human genetics.

[58]  N. G. Martin.  The inheritance of scholastic abilities in a sample of twins: II. Genetical analysis of examination results , 1975, Annals of human genetics.

[59]  R. Bone,et al.  Comparison of macular pigment densities in human eyes. , 1971, Vision research.

[60]  Tim D. Spector,et al.  ADVANCES IN TWIN AND SIB-PAIR ANALYSIS , 2004 .

[61]  D. Snodderly,et al.  Macular pigment density is reduced in obese subjects. , 2002, Investigative ophthalmology & visual science.

[62]  M de Lange,et al.  Are Twins and Singletons Comparable? A Study of Disease-related and Lifestyle Characteristics in Adult Women , 2001, Twin Research.

[63]  K. Kyvik.  Generalisability and assumptions of twin studies , 2000 .

[64]  W. Schalch,et al.  Vitamins and carotenoids--a promising approach to reducing the risk of coronary heart disease, cancer and eye diseases. , 1994, Advances in experimental medicine and biology.

[65]  R. Klein,et al.  The Beaver Dam Eye Study. Retinopathy in adults with newly discovered and previously diagnosed diabetes mellitus. , 1992, Ophthalmology.