Objective To investigate the correlation between retinopathy of prematurity（ROP） susceptibility and +405G/C and 936T/C polymorphism of vascular endothelial growth factor A（VEGF-A）gene. Methods 99 ROP infants（ROP group）and 80 premature infants（control group）were enrolled in this study. There was no difference of gestational age, birth weight and preoxygenation time between the ROP and control group (P＞0.05 ). The peripheral blood was collected, polymorphism genotypes and frequency of VEGF-A+405 and VEGF-A936 were measured by pyrosequencing. Results There are CC, GG, CG genotypes in VEGF-A+405 site, while CC, CT genotypes in VEGF-A 936 site. The VEGF-A+405 gene allele of C, G were 92,106 with the frequencies of 46.5%, 53.5% in the ROP group, and 90, 70 with the frequencies of 56.2%, 43.8% in the control group; the difference between two groups was not statistically significant (chi;2=3.396, P=0.066). There was no correlation between VEGF-A+405 polymorphism and ROP susceptibility (OR=0.675,OR95% CI=0.444, 1.026). The VEGF-A 936 gene allele of C, G were 32,166 with the frequencies of 16.2%, 83.8% in the ROP group, and 16, 144 with the frequencies of 10.0%, 90.0% in the control group; the difference between two groups was not statistically significant (chi;2=2.894, P=0.089). There was no correlation between VEGF-A 936 polymorphism and ROP susceptibility (OR=0.768, OR95% CI=0.711, 0.829). Conclusion There is no correlation between VEGF-A+405 or VEGF-A 936 polymorphism and ROP susceptibility.
ObjectiveTo investigate the relationship of the age-related maculopathy susceptibility 2 (ARMS2) A69S polymorphism and polypoidal choroidal vasculopathy (PCV), and to explore the distribution of risk allele in PCV and exudative age-related macular degeneration (wAMD). MethodsThis is a systemic review and meta-analysis. A literature research was performed in Pubmed, Embase, Web of Knowledge, Chinese national Knowledge Infrastructure and Wanfang Medicine Database by the key words of "ARMS2, LOC387715, A69S, rs10490924, age related macular degeneration, polypoidal choroidal vasculopathy, single nucleotide polymorphism". Case-control studies were included, while review, case report, or systemic reviews were excluded. The latest one of multiple articles was included only which published by the same group. The results of individual studies were pooled using the software Review Manager 5.1.4, and the correlation between allele frequencies, genotype and phenotype were analyzed. ResultsA total of 14 articles, consisting 2007 PCV patients, 1308 wAMD patients and 3286 controls were recruited. The pooled odds ratio (OR) in random-effects models for genotype TT versus wild homozygous genotype GG is 5.20 (95% CI: 3.90-6.95). Heterozygous genotype GT mildly increased the risk in affecting PCV, and the OR of GT versus GG is 1.85 (95% CI: 1.42-2.40. The frequency of T allele in wAMD was higher than in PCV, pool OR=1.60 (95% CI: 1.31-1.96). ConclusionsThe ARMS2 A69S variant is associated with PCV. Genotypes of TT and GT had an effect in increasing the risk of PCV, and the effect is even greater in genotype of TT. T allele had an effect in increasing the risk of PCV and wAMD, and the risk for wAMD is slightly greater than for PCV.
Objective To observe the clinical characteristics of steroid-induced ocular hypertension (SIOH) in patients with uveitis, and explore the relationship between its clinical phenotype and gene polymorphism. Methods A retrospective case-control study. From July 2019 to December 2020, 576 patients with uveitis who were treated with glucocorticoid eye drops in Tianjin Medical University Eye Hospital were included in the study. Among them, there were 175 confirmed glucocorticoid responders (SRs) and 401 glucocorticoid non-responders (NRs). Seventy cases of SRs (age ≥18 years) using 1% prednisone acetate eye drops were selected as the experiment group and 64 cases of NRs were selected as the control group. The polymorphism of rs2523864 and rs3873352 of human leukocyte antigen complex group (HCG) 22 gene were detected by Sanger sequencing. To observe the clinical characteristics of SIOH after the use of glucocorticoid eye drops, and the correlation between rs2523864 and rs3873352 and the occurrence of SIOH. Differences among groups were compared with the Chi-square test or Fisher's exact test. The correlation between the occurrence of SIOH and the range of intraocular pressure increases after glucocorticoid use and the rs2523864 and rs3873352 loci were compared using the odds ratio (OR) and its 95% confidence interval (CI). Results SIOH occurred in 175 (30.4%, 175/576) of 576 patients. Among them, there were 96 males (54.9%, 96/175) and 79 females (45.1%, 79/175); the average age was 33.64±17.40 years. Steroid high responders (HRs) and steroid moderate responders (MRs) were 58 (33.1%, 58/175) and 117 (66.9%, 117/175) cases. The medication time for the increase in intraocular pressure in MRs that was 33 (19, 56) days, and in HRs that was 28 (14, 36) days, the difference of which was significant (Z=－1.999, P=0.046). No differences were found in daily doses of ocular hypertension induced by 1% prednisone acetate eye drops between MRs which was 4.24 (3.46, 4.66) drops/day and HRs that was 4.32 (3.84, 5.36) drops/day (Z=－1.676, P=0.094). The genotype and allele frequency distribution of the rs3873352 locus in the case group and HRs group were significantly different from those in the control group (P＜0.05). The intraocular pressure with rs3873352 GG genotype after the medication was higher than that with GC and CC genotype (Z=2.855, 2.628; P=0.013, 0.026), whereas there was no significant difference between different genotypes of rs2523864 (Z=3.580, P＞0.05). Genetic model analysis revealed the risk of SIOH in rs3873352 G allele carriers (GG+GC) was 2.048 times that of non-G allele carriers (OR=2.048, 95%CI: 1.027-4.081, P=0.041). The genotype and allele frequency of rs2523864 locus showed no significant difference between different group (P＞0.05). Conclusions After the use of glucocorticoid eye drops, HRs have an earlier increase in intraocular pressure than MRs. HCG22-rs3873352 gene polymorphism is related to the occurrence of SIOH, GG genotype increases the risk of SIOH, and G allele is a risk gene for SIOH.