Twins' Macular Pigment Optical Density Assessment and Relation with SCARB1 Gene Polymorphism

Edita Kunceviciene; Ruta Mockute; Aiste Petrauskaite; Brigita Budiene; Alina Smalinskiene; Ieva Zvykaite; Rasa Liutkeviciene

doi:10.3390/genes14010125

Twins' Macular Pigment Optical Density Assessment and Relation with SCARB1 Gene Polymorphism

Genes (Basel). 2023 Jan 2;14(1):125. doi: 10.3390/genes14010125.

Authors

Edita Kunceviciene¹, Ruta Mockute², Aiste Petrauskaite², Brigita Budiene², Alina Smalinskiene¹, Ieva Zvykaite¹, Rasa Liutkeviciene^{2

3}

Affiliations

¹ Institute of Biology Systems and Genetics Research, Lithuanian University of Health Sciences, Tilzes 18, 47181 Kaunas, Lithuania.
² Department of Ophthalmology, Lithuanian University of Health Sciences, Eiveniu 2, 50161 Kaunas, Lithuania.
³ Neuroscience Institute, Lithuanian University of Health Sciences, Eiveniu 2, 50161 Kaunas, Lithuania.

Abstract

The aim of the study: to assess the influence of genetic and environmental factors using twin studies and evaluate the associations of SCARB1 gene variants (rs11057841) with AMD and MPOD.

Material and methods: a total of 108 healthy twins (56 MZ and 52 DZ twins) were tested in this study. The MPOD was measured using the one-wavelength reflectometry method. Fundus reflectance (Visucam 500, reflectance of a single 460 nm wavelength) was used to measure the MPOD levels, MPOD parameters including max and mean optical density (OD), and area and volume. Real-time polymerase chain reaction was used to detect single nucleotide polymorphisms.

Results: we detected a positive correlation of MPOD in the right and left eyes in MZ twin pairs (r = 0.830 and r = 0.860, respectively) (p < 0.0001) and a negative correlation of MPOD in the right and left eyes in DZ twin pairs (r = 0.314 and r = 0.408, respectively) (p < 0.05). The study was able to identify statistically significant differences in mean MPOD values in the right and left eyes between subjects with a wild-type CC genotype and a CT genotype with a risk allele. A decrease in the mean MPOD value was observed in group II with a CT genotype (0.110 d.u.) compared with the CC genotype (0.117 d.u.) in the right eye (p = 0.037) and in the left eye with a CT genotype (0.109 d.u.) compared with a CC genotype in the subjects (0.114 d.u.) (p = 0.038). In the right eye, in group II (0.101-0.128 d.u.), those with a CT genotype (n = 6) with one risk allele had a statistically significantly lower (0.110 d.u.) mean average MPOD value compared with those with a wild-type CC genotype (n = 25) (0.117 d.u.) (p = 0.037).

Conclusion: this twin study showed a strong heritability of the retina pigment, which was 86% prevalent in Lithuania. Individuals with a CT genotype of the SCARB1 rs11057841 with a risk allele had statistically significantly lower mean MPOD values in both eyes compared to subjects with a wild-type CC genotype.

Keywords: SCARB1; dizygotic twins; macular pigment optical density; monozygotic twins.

Publication types

Twin Study
Research Support, Non-U.S. Gov't

MeSH terms

Fundus Oculi
Genotype
Humans
Macular Pigment* / analysis
Polymorphism, Single Nucleotide
Scavenger Receptors, Class B / genetics
Twins

Substances

Macular Pigment
SCARB1 protein, human
Scavenger Receptors, Class B

Grants and funding

Funding for the research in the laboratory was obtained from the Lithuanian University of Health Sciences.