title: Evaluation of the IL1 Gene Cluster Single Nucleotide Polymorphisms in Primary Open-Angle Glaucoma Pathogenesis.
abstract: OBJECTIVE
  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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  Our study did not reveal any reproducible association of SNPs in the IL1 gene cluster with POAG.
authors.affiliation: 1 Molecular & Human Genetics Division, CSIR-Indian Institute of Chemical Biology , Kolkata, India .
authors.forename: Suddhasil
authors.initials: S
authors.lastname: Mookherjee
authors.affiliation: 1 Molecular & Human Genetics Division, CSIR-Indian Institute of Chemical Biology , Kolkata, India .
authors.forename: Deblina
authors.initials: D
authors.lastname: Banerjee
authors.affiliation: 1 Molecular & Human Genetics Division, CSIR-Indian Institute of Chemical Biology , Kolkata, India .
authors.forename: Subhadip
authors.initials: S
authors.lastname: Chakraborty
authors.affiliation: 2 Human Genetics Unit, Indian Statistical Institute , Kolkata, India .
authors.forename: Indranil
authors.initials: I
authors.lastname: Mukhopadhyay
authors.affiliation: 3 Dristi Pradip , Kolkata, India .
authors.forename: Abhijit
authors.initials: A
authors.lastname: Sen
authors.affiliation: 1 Molecular & Human Genetics Division, CSIR-Indian Institute of Chemical Biology , Kolkata, India .
authors.forename: Kunal
authors.initials: K
authors.lastname: Ray
mesh_terms: D000368:Aged; D005260:Female; D005902:Glaucoma, Open-Angle / Q000235:genetics*; D006801:Humans; D007375:Interleukin-1 / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D005810:Multigene Family; D020641:Polymorphism, Single Nucleotide
chemical_list: C508587:IL37 protein, human; D007375:Interleukin-1
keywords: POAG; association study; genetics; glaucoma; interleukins