Genetic and risk factors of age-related macular degeneration
- VernacularTitle:Нүдний шар толбоны насжилт хамааралт сөнөрлийн эрсдэлт хүчин зүйлс ба генетик
- Author:
Ariunzaya A
1
;
Chimedlkhamsuren G
2
;
Bayarlakh B
2
;
Suvd T
2
;
Baasankhuu J
3
;
Sarantuya J
2
;
Uranchimeg D
1
Author Information
1. Department of Ophthalmology, School of Medicine, MNUMS
2. Department of Molecular Biology and Genetics, School of Bio-Medicine, MNUMS
3. Bolor Melmii Eye Hospital
- Publication Type:Journal Article
- Keywords:
risk factor;
single nucleotide polymorphism;
vascular endothelial growth factor
- From:Mongolian Medical Sciences
2024;210(4):18-25
- CountryMongolia
- Language:Mongolian
-
Abstract:
Background:Worldwide, the leading cause of blindness in people over the age of 50 is age-related macular
degeneration (AMD), which is a complication of the exudative “wet” and dry type. AMD is a
multifactorial neurodegenerative disease relating with a combination of environmental and
genetic factors, and a contribution of age effect and smoking also, obesity was investigated
to be associated with the disease. Number of previous studies have shown that the
polymorphisms in the ARMS2, CFH and VEGF-A genes are associated with AMD. Therefore,
we investigated the associations between the five common vascular endothelial growth factor
(VEGF) polymorphisms and AMD with its therapeutic results.
Materials and Methods:Totally 161 AMD patients and 223 controls were enrolled in this case-control study. A
prospective analysis of 66 eyes of 34 patients with neovascular AMD evaluated intravitreal
bevacizumab injections. The polymorphisms in CFH, ARMS2 and VEGF-А were detected
by using the methods of allele-specific polymerase chain reaction (ASPCR) and PCR based
restriction fragment length polymorphism (RFLP). Statistical analyses were performed by
SNPalyze software.
Results:Results of the study showed that rs1061170, rs1065489, and rs800292 polymorphisms are
associated with arterial hypertension. Anti-coagulant intake rs1061170 polymorphism T/C,
C/C/C/C risk genotype (OR=5.04, 95% CI, 1.81-14.09, p=0.002, RERI=2.568, AP=0.509,
S=2.7302) , combined effect of G/C/C/C/ /G, G/A risk genotype (OR=6.52, 95% CI, 2.88
14.79, p<0.001, RERI=4.187, AP=0.642, S=4.136) are associated with increased risk of AMD. In the study, in 66 eyes of a total of 34 people who received intravitreous injection
treatment, the central retinal thickness before and after treatment was 294.59±83.52 before
treatment, 262.74±87.02 on the first day after treatment, 259.5±111.83 after one month,
248.98±84.96 after 3 months, and 262.69 after 6 months. ±110.59, after 1 year it decreased
to 259.19±112.29 (95% CI, 226.74-291.65), which is a statistically significant difference. A
comparative study of polymorphisms in therapeutic and non-therapeutic groups revealed
statistically significant differences in the G/G groups of rs2010963 polymorphisms. Also,
people with G/G genotype of rs2010963 polymorphism are more effective in treatment than
people with other genotypes.
Conclusion:Individual factors such as not wearing sunglasses and arterial hypertension and using anti
coagulant medication have been identified as risk factors for AMD. The result showed that
polymorphisms of ARMS2, CFH, VEGF genes can be a genetic risk factor for AMD. The
decreased in central retinal thickness and improving VA after anti-VEGF treatment confirm the
effectiveness of the treatment. Also, people with G/G genotype of rs2010963 polymorphism
are more effective in treatment than people with other genotypes. Identification of genetic
markers that affect clinical response may result in optimization of anti-VEGF therapy.
- Full text:2025060517142652065MMS-2024-210(4)-18-25.pdf
