Association of <it>IL1A </it>and <it>IL1B </it>loci with primary open angle glaucoma

• Main Authors: Mukhopadhyay Indranil (Author), Banerjee Antara (Author), Chakraborty Subhadip (Author), Banerjee Deblina (Author), Mookherjee Suddhasil (Author), Sen Abhijit (Author), Ray Kunal (Author)
• Format: Book
• Published: BMC, 2010-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.
• Notes: 10.1186/1471-2350-11-99; 1471-2350
• Keywords: Internal medicine; RC31-1245; Genetics; QH426-470
• Source: BMC Medical Genetics, Vol 11, Iss 1, p 99 (2010)

<p>Abstract</p> <p>Background</p> <p>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 <it>IL1A </it>and <it>IL1B </it>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.</p> <p>Methods</p> <p>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): <it>IL1A </it>(-889C/T; rs1800587), <it>IL1B </it>(-511C/T; rs16944) and <it>IL1B </it>(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.</p> <p>Results</p> <p>No significant difference was observed in the allele and genotype frequencies for <it>IL1A </it>and <it>IL1B </it>SNPs between total pool of POAG patients and controls. However, on segregating the patient pool to HTG and non-HTG groups, weak association was observed for <it>IL1A </it>polymorphism (-889C/T) where -889C allele was found to portray risk (OR = 1.380; 95% CI = 1.041-1.830; p = 0.025) for non-HTG patients. Similarly, 3953T allele of <it>IL1B </it>polymorphism (+3953C/T) was observed to confer risk to HTG group (OR = 1.561; 95% CI = 1.022-2.385; p = 0.039). On haplotype analysis it was observed that TTC was significantly underrepresented in non-HTG patients (OR = 0.538; 95% CI = 0.356- 0.815; p = 0.003) while TCT haplotype was overrepresented in HTG patients (OR = 1.784; 95% CI = 1.084- 2.937; p = 0.022) compared to control pool. However, after correction for multiple tests by Bonferroni method, an association of only TTC haplotype with non-HTG cases sustained (p_corrected= 0.015) and expected to confer protection.</p> <p>Conclusion</p> <p>The study suggests that the genomic region containing the <it>IL1 </it>gene cluster influences the POAG pathogenesis mostly in non-HTG patients in eastern India. A similar study in additional and larger cohorts of patients in other population groups is necessary to further substantiate the observation.</p>