Twins’ Macular Pigment Optical Density Assessment and Relation with SCARB1 Gene Polymorphism
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 w...
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MDPI AG
2023-01-01
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| Online Access: | https://www.mdpi.com/2073-4425/14/1/125 |
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| author | Edita Kunceviciene Ruta Mockute Aiste Petrauskaite Brigita Budiene Alina Smalinskiene Ieva Zvykaite Rasa Liutkeviciene |
| author_facet | Edita Kunceviciene Ruta Mockute Aiste Petrauskaite Brigita Budiene Alina Smalinskiene Ieva Zvykaite Rasa Liutkeviciene |
| author_sort | Edita Kunceviciene |
| collection | DOAJ |
| description | 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) (<i>p</i> < 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) (<i>p</i> < 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 (<i>p</i> = 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.) (<i>p</i> = 0.038). In the right eye, in group II (0.101–0.128 d.u.), those with a CT genotype (<i>n</i> = 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 (<i>n</i> = 25) (0.117 d.u.) (<i>p</i> = 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. |
| first_indexed | 2024-03-09T12:36:02Z |
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| last_indexed | 2024-03-09T12:36:02Z |
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| spelling | doaj.art-7ad03b540c38499a9b78e0b00a18dc2b2023-11-30T22:23:55ZengMDPI AGGenes2073-44252023-01-0114112510.3390/genes14010125Twins’ Macular Pigment Optical Density Assessment and Relation with SCARB1 Gene PolymorphismEdita Kunceviciene0Ruta Mockute1Aiste Petrauskaite2Brigita Budiene3Alina Smalinskiene4Ieva Zvykaite5Rasa Liutkeviciene6Institute of Biology Systems and Genetics Research, Lithuanian University of Health Sciences, Tilzes 18, 47181 Kaunas, LithuaniaDepartment of Ophthalmology, Lithuanian University of Health Sciences, Eiveniu 2, 50161 Kaunas, LithuaniaDepartment of Ophthalmology, Lithuanian University of Health Sciences, Eiveniu 2, 50161 Kaunas, LithuaniaDepartment of Ophthalmology, Lithuanian University of Health Sciences, Eiveniu 2, 50161 Kaunas, LithuaniaInstitute of Biology Systems and Genetics Research, Lithuanian University of Health Sciences, Tilzes 18, 47181 Kaunas, LithuaniaInstitute of Biology Systems and Genetics Research, Lithuanian University of Health Sciences, Tilzes 18, 47181 Kaunas, LithuaniaDepartment of Ophthalmology, Lithuanian University of Health Sciences, Eiveniu 2, 50161 Kaunas, LithuaniaThe 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) (<i>p</i> < 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) (<i>p</i> < 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 (<i>p</i> = 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.) (<i>p</i> = 0.038). In the right eye, in group II (0.101–0.128 d.u.), those with a CT genotype (<i>n</i> = 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 (<i>n</i> = 25) (0.117 d.u.) (<i>p</i> = 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.https://www.mdpi.com/2073-4425/14/1/125monozygotic twinsdizygotic twinsmacular pigment optical densitySCARB1 |
| spellingShingle | Edita Kunceviciene Ruta Mockute Aiste Petrauskaite Brigita Budiene Alina Smalinskiene Ieva Zvykaite Rasa Liutkeviciene Twins’ Macular Pigment Optical Density Assessment and Relation with SCARB1 Gene Polymorphism Genes monozygotic twins dizygotic twins macular pigment optical density SCARB1 |
| title | Twins’ Macular Pigment Optical Density Assessment and Relation with SCARB1 Gene Polymorphism |
| title_full | Twins’ Macular Pigment Optical Density Assessment and Relation with SCARB1 Gene Polymorphism |
| title_fullStr | Twins’ Macular Pigment Optical Density Assessment and Relation with SCARB1 Gene Polymorphism |
| title_full_unstemmed | Twins’ Macular Pigment Optical Density Assessment and Relation with SCARB1 Gene Polymorphism |
| title_short | Twins’ Macular Pigment Optical Density Assessment and Relation with SCARB1 Gene Polymorphism |
| title_sort | twins macular pigment optical density assessment and relation with scarb1 gene polymorphism |
| topic | monozygotic twins dizygotic twins macular pigment optical density SCARB1 |
| url | https://www.mdpi.com/2073-4425/14/1/125 |
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