association of il1a and il1b loci with primary open angle glaucomail1a协会和il1b位点原发性开角青光眼.pdfVIP

Mookherjee et al. BMC Medical Genetics 2010, 11:99 /1471-2350/11/99 R E S E A R C H A R T I C L E Open Access Research article Association of IL1A and IL1B loci with primary open angle glaucoma 1 1 1 1 2 Suddhasil Mookherjee , Deblina Banerjee , Subhadip Chakraborty , Antara Banerjee , Indranil Mukhopadhyay , 3 1 Abhijit Sen and Kunal Ray* Abstract Background: Recent studies suggest that glaucoma is a neurodegenerative disease in which secondary degenerative losses occur after primary insult by raised Intraocular pressure (IOP) or by other associated factors. It has been reported that polymorphisms in the IL1A and IL1B genes are associated with Primary Open Angle Glaucoma (POAG). The purpose of our study was to investigate the role of these polymorphisms in eastern Indian POAG patients. Methods: The study involved 315 unrelated POAG patients, consisting of 116 High Tension Glaucoma (HTG) patients with intra ocular pressure (IOP) 21 mmHg and 199 non-HTG patients (presenting IOP 20 mmHg), and 301 healthy controls from eastern India. Genotypes were determined by polymerase chain reaction and restriction digestion for three single nucleotide polymorphisms (SNPs): IL1A (-889C/T; rs1800587), IL1B (-511C/T; rs16944) and IL1B (3953C/T; rs1143634). Haplotype frequency was determined by Haploview 4.1 software. The association of individual SNPs and major haplotypes was evaluated using chi-square statistics. The p-value was corrected for multiple tests by Bonferroni method. Results: No significant difference was observed in the allele and genotype frequencies for IL1A and IL1B SNPs between total pool of POAG patients and controls. However, on segregating the patient po