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Background: The interaction between environmental and genetic factors that influence eye growth, regulated by vision, contributes to the development and progression of myopia. This dynamic interaction significantly contributes to the multifaceted development and progression of myopia, a prevalent ocular condition. Our study delves into the associations between ZNF676 and CTC1 gene polymorphisms and their impact on the relative leukocyte telomere length (relative LTL) in myopia, as well as its degree. By unravelling these underpinnings in conjunction with environmental influences, we aim to enhance our understanding of the complex mechanisms that drive the onset and severity of myopia. Methods: This study included patients with myopia and ophthalmologically healthy subjects. DNA was extracted from peripheral venous blood by the salting out method. Genotyping of ZNF676 rs412658 and CTC1 rs3027234, as well as the measurement of relative LTL, were conducted using a real-time polymerase chain reaction method (RT-PCR). The data obtained were statistically analyzed using the “IBM SPSS Statistics 29.0” software program. Results: The results show that myopic patients who are homozygous for the rs3027234 rare allele genotype of the CTC1 gene have statistically significantly shorter relative LTL compared to patients with the CC and CT genotypes. Also, men with the CTC1 rs3027234 TT genotype have statistically significantly longer leukocyte telomeres than women with the same genotype. The respective median (IQR) of the relative LTL for women and men is 0.280 (0.463) vs. 0.696 (0.440), with a p-value of 0.027. The myopia group with the ZNF676 rs412658 CC genotype has statistically significantly shorter leukocyte telomeres than the control group with the same genotype (age ≤ 29), and the p-value is 0.011. Also, the myopia group with the ZNF676 rs412658 CT and CTC1 rs3027234 CT genotypes have statistically significantly longer leukocyte telomeres than the control group with the same genotypes (age > 29), with p-values that are, respectively, 0.016 and 0.012. The evaluation of the genotype distributions of the polymorphisms in the myopia patients showed that ZNF676 rs412658 CT genotype carriers have 4-fold decreased odds of high myopia occurrence (OR = 0.250; CI: 0.076–0.826; p = 0.023). Also, the evaluation of the allele distributions of the polymorphism under the additive genetic model in the myopia group showed that the ZNF676 rs412658 T allele was associated with similar odds of high myopia (OR = 0.269; 95% CI: 0.090–0.807; p = 0.019). The comprehensive p-value, assessing the relative LTL of subjects across the different levels of myopia, signifies a statistical difference in the relative LTL among individuals with varying degrees of myopia. There was a statistically significant difference in relative LTL between mild and moderate myopia degrees (0.819 (1.983) vs. 0.083 (0.930), p = 0.007). Conclusions: CTC1 rs3027234 TT may be considered a protective genotype for telomere shortening in men, while the overall telomere shortening might be linked to the worse myopia degree. The ZNF676 rs412658 T allele may protect against a high myopia occurrence.

Background This study aimed to assess heritability of myopia in Lithuania and evaluate both genes GJD2 (Gap Junction Protein, Delta 2) and RASGRF1 (RAS protein-specific guanine nucleotide-releasing factor 1) relation with myopia. Methods In this study Lithuanian twin population aged between 18 and 40 ( n  = 460) were examined. Single-nucleotide polymorphisms of the RASGRF1 (rs8027411) and GJD2 (rs634990) genes were assessed by real-time polymerase chain reaction method. Results Intrapair correlations for spherical equivalent in all twin pairs were significantly higher in MZ twin pairs r  = 0.539 ( p  < 0.001, 95% CI 0.353–0.684) than in DZ twin pairs r  = 0.203 ( p  < 0.01, 95% CI 0.0633–0.442) in myopia group. Correlations for spherical equivalent in emmetropia group were not significant in MZ twin pairs r  = 0.091 ( p  > 0.05, 95% CI -0.215-0.381) and in DZ twin pairs r  = − 0.220 (p > 0.05, 95% CI -0.587-0.222). The odds ratio (95% CI) were 2.7 (1.018–7.460) for combinations of genotypes of rs634990 CC and rs8027411 GT ( p  = 0.046). Conclusions Our studies have shown that the heritability of myopia makes 67.2% in Lithuania. Persons with combinations of genotypes rs634990 CC and rs8027411 GT have 2.7 times higher odds to have myopia.

To investigate the association of the pair box 6 gene (PAX6) and hsa-miR-328-3p with optical density of macular pigment. We evaluated 112 individuals (34 with moderate myopia, eight with high-degree myopia, and 70 healthy individuals). The optical density of macular pigment was measured using single-wavelength reflectometry. DNA and RNA were extracted from whole blood samples. Expression of hsa-miR-328-3p and genotyping of single-nucleotide polymorphism of PAX6 (rs662702) were performed using Applied Biosystems 7900HT real-time polymerase chain reaction system. Optical density of retinal pigment epithelial cells was evaluated using Fundus plus camera. In the group with myopia, with increasing ∆Ct hsa-miR-328-3p, the median optical density of the retinal pigment epithelium decreased statistically significantly (p<0.032). No statistically significant association was found between SNP rs662702 genotype variant of the PAX6 gene and the optical density of the retinal pigment epithelium. The increased expression of hsa-miR-328-3p in the blood indicates a decrease in the optical density of the retinal pigment epithelium in those with myopia.

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.

(1) Background: genetic variations, localized in the functional regions of the extracellular matrix (ECM) modulation-related genes, may alter the transcription process and impact the Dupuytren’s contracture (DC). The present study investigated the association of single nucleotide polymorphisms (SNPs), localized in the functional regions of the MMP8, MMP14, and CHST6 genes, with DC risk. (2) Methods: we enrolled 219 genomic DNA samples, which were extracted from 116 patients with DC and 103 healthy controls. Genotyping of selected SNPs was performed using TaqMan single nucleotide polymorphisms genotyping assay. Three polymorphisms (MMP8 rs11225395, MMP14 rs1042704, and CHST6 rs977987) were analyzed. All studied SNPs were in Hardy–Weinberg equilibrium. (3) Results: significant associations of the studied SNPs with the previous onset of the disease were observed between the CHST6 rs977987 minor T allele (p = 0.036) and the MMP14 rs1042704 mutant AA genotype (p = 0.024). Significant associations with the previous onset of the disease were also observed with a positive family history of the DC (p = 0.035). Moreover, risk factor analysis revealed that a combination of major disease risk factors (smoking and manual labor) and the MMP14 minor A allele increases the risk of DC development by fourteen times (p = 0.010). (4) Conclusions: our findings suggest that CHST6 rs977987, MMP14 rs1042704, and positive family history are associated with the previous onset of Dupuytren’s contracture. In addition, the combination of the MMP14 minor A allele and additional risk factors increase the likelihood of the manifestation of the DC.

The interaction between environmental and genetic factors that influence eye growth, regulated by vision, contributes to the development and progression of myopia. This dynamic interaction significantly contributes to the multifaceted development and progression of myopia, a prevalent ocular condition. Our study delves into the associations between and gene polymorphisms and their impact on the relative leukocyte telomere length (relative LTL) in myopia, as well as its degree. By unravelling these underpinnings in conjunction with environmental influences, we aim to enhance our understanding of the complex mechanisms that drive the onset and severity of myopia. This study included patients with myopia and ophthalmologically healthy subjects. DNA was extracted from peripheral venous blood by the salting out method. Genotyping of rs412658 and rs3027234, as well as the measurement of relative LTL, were conducted using a real-time polymerase chain reaction method (RT-PCR). The data obtained were statistically analyzed using the \"IBM SPSS Statistics 29.0\" software program. The results show that myopic patients who are homozygous for the rs3027234 rare allele genotype of the gene have statistically significantly shorter relative LTL compared to patients with the CC and CT genotypes. Also, men with the rs3027234 TT genotype have statistically significantly longer leukocyte telomeres than women with the same genotype. The respective median (IQR) of the relative LTL for women and men is 0.280 (0.463) vs. 0.696 (0.440), with a -value of 0.027. The myopia group with the rs412658 CC genotype has statistically significantly shorter leukocyte telomeres than the control group with the same genotype (age ≤ 29), and the -value is 0.011. Also, the myopia group with the rs412658 CT and rs3027234 CT genotypes have statistically significantly longer leukocyte telomeres than the control group with the same genotypes (age > 29), with -values that are, respectively, 0.016 and 0.012. The evaluation of the genotype distributions of the polymorphisms in the myopia patients showed that rs412658 CT genotype carriers have 4-fold decreased odds of high myopia occurrence (OR = 0.250; CI: 0.076-0.826; = 0.023). Also, the evaluation of the allele distributions of the polymorphism under the additive genetic model in the myopia group showed that the rs412658 T allele was associated with similar odds of high myopia (OR = 0.269; 95% CI: 0.090-0.807; = 0.019). The comprehensive -value, assessing the relative LTL of subjects across the different levels of myopia, signifies a statistical difference in the relative LTL among individuals with varying degrees of myopia. There was a statistically significant difference in relative LTL between mild and moderate myopia degrees (0.819 (1.983) vs. 0.083 (0.930), = 0.007). rs3027234 TT may be considered a protective genotype for telomere shortening in men, while the overall telomere shortening might be linked to the worse myopia degree. The rs412658 T allele may protect against a high myopia occurrence.

Background: The interaction between environmental and genetic factors that influence eye growth, regulated by vision, contributes to the development and progression of myopia. This dynamic interaction significantly contributes to the multifaceted development and progression of myopia, a prevalent ocular condition. Our study delves into the associations between ZNF676 and CTC1 gene polymorphisms and their impact on the relative leukocyte telomere length (relative LTL) in myopia, as well as its degree. By unravelling these underpinnings in conjunction with environmental influences, we aim to enhance our understanding of the complex mechanisms that drive the onset and severity of myopia. Methods: This study included patients with myopia and ophthalmologically healthy subjects. DNA was extracted from peripheral venous blood by the salting out method. Genotyping of ZNF676 rs412658 and CTC1 rs3027234, as well as the measurement of relative LTL, were conducted using a real-time polymerase chain reaction method (RT-PCR). The data obtained were statistically analyzed using the “IBM SPSS Statistics 29.0” software program. Results: The results show that myopic patients who are homozygous for the rs3027234 rare allele genotype of the CTC1 gene have statistically significantly shorter relative LTL compared to patients with the CC and CT genotypes. Also, men with the CTC1 rs3027234 TT genotype have statistically significantly longer leukocyte telomeres than women with the same genotype. The respective median (IQR) of the relative LTL for women and men is 0.280 (0.463) vs. 0.696 (0.440), with a p-value of 0.027. The myopia group with the ZNF676 rs412658 CC genotype has statistically significantly shorter leukocyte telomeres than the control group with the same genotype (age ≤ 29), and the p-value is 0.011. Also, the myopia group with the ZNF676 rs412658 CT and CTC1 rs3027234 CT genotypes have statistically significantly longer leukocyte telomeres than the control group with the same genotypes (age > 29), with p-values that are, respectively, 0.016 and 0.012. The evaluation of the genotype distributions of the polymorphisms in the myopia patients showed that ZNF676 rs412658 CT genotype carriers have 4-fold decreased odds of high myopia occurrence (OR = 0.250; CI: 0.076–0.826; p = 0.023). Also, the evaluation of the allele distributions of the polymorphism under the additive genetic model in the myopia group showed that the ZNF676 rs412658 T allele was associated with similar odds of high myopia (OR = 0.269; 95% CI: 0.090–0.807; p = 0.019). The comprehensive p-value, assessing the relative LTL of subjects across the different levels of myopia, signifies a statistical difference in the relative LTL among individuals with varying degrees of myopia. There was a statistically significant difference in relative LTL between mild and moderate myopia degrees (0.819 (1.983) vs. 0.083 (0.930), p = 0.007). Conclusions: CTC1 rs3027234 TT may be considered a protective genotype for telomere shortening in men, while the overall telomere shortening might be linked to the worse myopia degree. The ZNF676 rs412658 T allele may protect against a high myopia occurrence.

Purpose: This study aimed to evaluate the associations of GJD2 (rs634990, rs524952) and RASGRF1 (rs8027411, rs4778879, rs28412916) gene polymorphisms with refractive errors. Methods: The study included 373 subjects with refractive errors (48 myopia, 239 myopia with astigmatism, 14 hyperopia, and 72 hyperopia with astigmatism patients) and 104 ophthalmologically healthy subjects in the control group. A quantitative real-time polymerase chain reaction (qPCR) method was chosen for genotyping. Statistical calculations and analysis of results were performed with IBM SPSS Statistics 27 software. Results: The correlations in monozygotic (MZ) twin pairs were higher compared to DZ pairs, indicating genetic effects on hyperopia and astigmatism. The heritability (h2) of hyperopia and astigmatism was 0.654 for the right eye and 0.492 for the left eye. The GJD2 rs634990 TT genotype increased the incidence of hyperopia with astigmatism by 2.4-fold and the CT genotype decreased the incidence of hyperopia with astigmatism by 0.51-fold (p < 0.05). The GJD2 rs524952 AT genotype reduced the incidence of hyperopia with astigmatism by 0.53-fold (p < 0.05). Haplotype analysis of SNPs in the GJD2 gene revealed two statistically significant haplotypes: ACTAGG for rs634990 and TTTAGA for rs524952, which statistically significantly reduced the incidence of hyperopia and hyperopia with astigmatism by 0.41-fold (95% CI: 0.220–0.765) and 0.383-fold (95% CI: 0.199–0.737), respectively (p < 0.05). It was also found that, in the presence of haplotypes ACTAGG for rs634990 and TATAGA for rs524952, the possibility of hyperopia was reduced by 0.4-fold (p < 0.05). Conclusions: the heritability of hyperopia and hyperopia with astigmatism was 0.654–0.492, according to different eyes in patients between 20 and 40 years. The GJD2 rs634990 was identified as an SNP, which has significant associations with the co-occurrence of hyperopia and astigmatism. Patients with the GJD2 gene rs634990 TT genotype were found to have a 2.4-fold higher risk of develop hyperopia with astigmatism.

Trumparegystė – dažniausiai pasitaikantis akių refrakcijos sutrikimas, kai lygiagretūs spinduliai, perėję akies optinę sistemą, susikerta prieš tinklainę. Šio sutrikimo priežastis gali būti pailgėjęs akies obuolys arba per didelė lęšiuko laužiamoji geba (Holden ir kt., 2015).Rega yra svarbiausia žmogaus sensorinė sistema, kurios dėka gaunama daugiausiai informacijos apie supančią aplinką (Young ir kt., 2007). Tai rodo, kad žinios, susijusios su akių refrakcijos sutrikimo mechanizmais yra svarbios dėl žmogaus gyvenimo kokybės.Trumparegystės pasireiškimą lemia genetiniai ir aplinkos veiksniai, kurie akių vystymąsi gali paveikti struktūriškai ir fiziologiškai (Young ir kt., 2007; Hales ir kt., 2001).Atlikti dvynių tyrimai Australijoje, Jungtinėje Karalystėje, Danijoje parodė, kad genetinių veiksnių įtaka trumparegystės pasireiškimui yra didesnė nei aplinkos veiksniai (Dirani ir kt. 2006; Hammond ir kt., 2001; Lyhne ir kt., 2001). Lietuvoje nuo 2004 iki 2018 metų, trumparegyste vaikų skaičius padidėjo 1,8 karto (www.sic.hi.lt), tačiau tyrimų, rodančių, kiek augančios trumparegystės pasireiškimui turi įtakos genetiniai ir aplinkos veiksniai, mūsų šalyje nėra atlikta.Atlikta genetinės sankibos analize (angl.Linkage Analysis) nustatyta 20 galimų chromosomų regionų, kurie siejami su trumparegyste. Vėliau buvo nustatyti 25 genai, kurių didelė dalis dalyvauja bendruose biologiniuose procesuose, tokiuose kaip tarpląstelinio užpildo struktūros pokyčiai, reguliuojantys jungiamojo audinio remodeliaciją (Wojciechowski ir kt., 2011).Šio tyrimo metu tirtiCOL2A1, COL8A1genai, koduojantys užląstelinio užpildo II ir VIII tipo kolagenus yra svarbūs jungiamojo audinio remodeliacijoje. II tipo kolagenas aptinkamas kremzėse, stiklakūnyje, VIII tipo kolagenas svarbus akies priekinio segmento vystymuisi (Hopfer ir kt., 2005).Sparčiai tobulėjant molekulinės genetikos metodams, plataus mąsto viso genomo sąsajų (PMVGS) tyrimais nustatyta 160 genų, kurie siejami su refrakcijos sutrikimais. Vieni pirmųjų PMVGS tyrimais nustatytiGJD2 ir RASGRF1genai. Šie genai siejami su naujais trumparegystės mechanizmais, tokiais kaip stiebelių ir kūgelių bipoliarinių sinapsių neurotransmisija (Tedja ir kt., 2018).GJD2 irRASGRF1 sąsajų reikšmingumui su trumparegyste įvertinti, buvo atlikti tyrimai Azijos populiacijoje (Li ir kt., 2015; Chen ir kt., 2015; Oishi ir kt., 2013; Fernandez-Medarde ir kt., 2009), tačiau Europoje tyrimų rezultatų, susijusių su minėtais genais ir trumparegyste, prieinamose duomenų bazėse nepavyko rasti. Siekiant nustatyti trumparegystės pasireiškimą lemiančius genetinius veiksnius yra svarbu atlikti genetinius tyrimus skirtingose populiacijose.PAX6 genas yra atsakingas už centrinės nervų sistemos ir akių vystymąsi, taip pat svarbus lęšių ir tinklainės diferenciacijoje (Liang ir kt., 2011). Duomenų bazėse randama, kadPAX6 geno vieno nukleotido polimorfizmo (VNP) rs662702 3ʼ netransliuojamame regione (UTR) yra galima sąveika tarp PAX6 geno informacinės RNR (iRNR) ir mikroRNR-328 (miR-328). Manoma, kad minėta sąveika gali slopintiPAX6 geno koduojamo PAX6 baltymo raišką, dėl kurios sutrikdomas normalus akių vystymasis (Wang ir kt., 2013). Atlikti funkciniai tyrimai su skleros ir tinklainės pigmentinio epitelio ląstelėmis, taip pat parodė, kad padidėjusi miR-328 raiška, turi įtakosPAX6geno raiškai (Azhwar ir Perumal, 2015).Tačiau, dėl ribotos galimybės paimti žmogaus akių audinių,PAX6 geno VNP rs662702 ir hsa- miR-328-3p sąveikos reikšmingumo tyrimų su trumparegystein vivo, nebuvo atlikta. Iki šiol nebuvo rasta duomenų ir apie cirkuliuojančios kraujyje hsa-miR-328-3p tyrimus trumparegiams bei šio žymens sąveiką suPAX6 genu. Todėl, mūsų atlikti neinvaziniai hsa-miR-328-3p tyrimai, trumparegių ir sveikųjų periferiniame kraujyje yra svarbūs aiškinantisPAX6geno raiškos reguliaciją trumparegystės mechanizme.