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Association between IL1A and IL1B polymorphisms and primary open angle glaucoma in a Brazilian population
Mariana B Oliveira1, José Paulo C de Vasconcellos2, Galina Ananina1
11 Laboratory of Human Genetics, Center for Molecular Biology and Genetic Engineering, CBMEG, University of Campinas, SP 13083-875, Brazil.
Experimental Biology and Medicine (Maywood, N.J.)
|November 23, 2018
Summary
Genetic variations in the IL1B gene, specifically the –31C/T and –511C/T polymorphisms, are associated with primary open angle glaucoma (POAG) in Brazilian patients. These findings suggest a potential genetic risk factor for POAG development.
Area of Science:
- Genetics
- Ophthalmology
- Immunology
Background:
- Primary open angle glaucoma (POAG) is a leading cause of irreversible blindness worldwide.
- Genetic factors play a significant role in POAG pathogenesis.
- Interleukin-1 (IL-1) gene polymorphisms have been implicated in various inflammatory conditions, including ocular diseases.
Purpose of the Study:
- To investigate the association between five single nucleotide polymorphisms (SNPs) in the IL1A and IL1B genes and POAG in a Brazilian cohort.
- To evaluate the frequency of these polymorphisms in POAG patients and healthy controls.
- To determine if specific genotypes or haplotypes are risk factors for POAG development or disease severity.
Main Methods:
- A case-control study was conducted with 214 POAG patients and 187 healthy individuals.
- Five SNPs in IL1A (–889C/T, +4845G/T) and IL1B (–31C/T, –511C/T, +3954C/T) were genotyped using direct sequencing.
- Logistic regression analysis was used to test the association of individual SNPs and haplotypes with POAG.
- Genotypic distribution was compared between POAG patients who underwent surgery and those who did not.
Main Results:
- The –31C/T and –511C/T polymorphisms in the IL1B gene showed a significant association with POAG (p=0.002 and p=0.009, respectively).
- High linkage disequilibrium was observed between the –31C/T and –511C/T polymorphisms.
- The C/T haplotype (–31/–511) in IL1B was more common in POAG patients (p=0.018), while the T/C haplotype was more frequent in controls (p=0.011).
- Genotypic distribution of –31C/T and –511C/T SNPs differed significantly between POAG patients with and without anti-glaucomatous surgery (p=0.016 and p=0.023, respectively).
- No significant association was found for the remaining SNPs.
Conclusions:
- The C allele of IL1B –31C/T and the T allele of IL1B –511C/T polymorphisms may constitute a risk haplotype for POAG in the Brazilian population.
- These IL1B gene polymorphisms are potential genetic markers for POAG susceptibility.
- Larger cohort studies are recommended to confirm these findings and elucidate the role of IL-1 in POAG pathogenesis.
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