Evaluation of the IL1 Gene Cluster Single Nucleotide Polymorphisms in Primary Open-Angle Glaucoma Pathogenesis.
Genet Test Mol Biomarkers
; 20(10): 633-636, 2016 Oct.
Article
en En
| MEDLINE
| ID: mdl-27533638
ABSTRACT
AIMS:
Dysregulation of the immune system has previously been implicated in glaucoma pathogenesis. In this study, we investigated the potential association of SNPs in the IL1 gene cluster, consisting of nine genes, with primary open-angle glaucoma (POAG) cases. These cases presented with low to normal intraocular pressures (<20 mmHg), and are referred to as non-high tension glaucoma (non-HTG) cases. MATERIALS ANDMETHODS:
In this biphasic study, the discovery phase was conducted with 198 non-HTG cases and 112 controls from eastern India. A total of 68 single nucleotide polymorphisms (SNPs) spanning the IL1 nine-gene cluster region were genotyped using the MALDI-TOF based Sequenom platform. SNPs, which were found to be significantly associated with non-HTG cases in the first phase of the study, were further genotyped by Sanger sequencing in a replication cohort consisting of 194 non-HTG cases and 242 controls.RESULTS:
In the discovery phase, two nonsynonymous SNPs (rs3811046 and rs3811047), located in the IL1F7 gene and in an intergenic region, respectively were found to be weakly associated with non-HTG cases. However, the association was not sustained in the replication cohort.CONCLUSION:
Our study did not reveal any reproducible association of SNPs in the IL1 gene cluster with POAG.Palabras clave
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Bases de datos:
MEDLINE
Asunto principal:
Glaucoma de Ángulo Abierto
/
Familia de Multigenes
/
Interleucina-1
/
Polimorfismo de Nucleótido Simple
Tipo de estudio:
Etiology_studies
Límite:
Aged
/
Female
/
Humans
/
Male
/
Middle aged
Idioma:
En
Revista:
Genet Test Mol Biomarkers
Asunto de la revista:
BIOLOGIA MOLECULAR
/
GENETICA
Año:
2016
Tipo del documento:
Article
País de afiliación:
India