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      https://www.ias.ac.in/article/fulltext/jgen/100/0069

    • Keywords

       

      quantitative trait genomewide association study; intraocular pressure; occludable anterior chamber angle; ABCA4 gene; taqman assay; bioinformatics.

    • Abstract

       

      Glaucoma is a heterogeneous group of optic neuropathies and is one of the leading causes of irreversible blindness worldwide. Primary angle closure glaucoma (PACG) is a major subtype, prevalent mostly in east and south Asia, where occludable anterior chamber angle is considered as a primary risk factor, which in turn could be responsible for high intraocular pressure (IOP) and subsequent neurodegeneration of retinal ganglion cells. Clinically, IOP is considered as a major risk factor for glaucoma and viewed as an important endophenotype to promote the disease severity. To investigate the comprehensive genomic insights, we conducted a genomewide association study (GWAS) on IOP in individuals with occludable angle (<15 degrees), thus anatomically predisposed to PACG. After performing GWAS on IOP, we identified 25 genomewide suggestive significant loci (P<1e-05, n = 240) of which, six were in complete linkage disequilibrium with the ABCA4 genic region. We successfully replicated the most significant discovery, SNPs of ABCA4 (rs2065712) in a separate cohort of 89 individuals (P =1.16e-09). We identified multiple SNPs in ABCA4 to be associated with IOP. Also, we obtained genes harbouring significantly associated SNPs, included in relevant biological pathways that could potentially be involved in IOP variation and glaucomatous neurodegeneration.

    • Author Affiliations

       

      SUDIPTA CHAKRABORTY1 ANSHUL SHARMA2 INDRANIL BAGCHI1 SOUMEN PAL1 CHANDRIKA BHATTACHARYYA1 VINEY GUPTA3 ARINDAM MAITRA1 SAMSIDDHI BHATTACHARJEE1 ARUNDHATI SHARMA2 RAMANJIT SIHOTA3 MOULINATH ACHARYA1

      1. National Institute of Biomedical Genomics, P.O.: N.S.S, Kalyani 741 251, India
      2. Department of Anatomy, All India Institute of Medical Sciences, AIIMS Campus Temple, Sri Aurobindo Marg, Ansari Nagar East, New Delhi 110 029, India
      3. Dr. R.P. Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, AIIMS Campus Temple, Sri Aurobindo Marg, Ansari Nagar East, New Delhi 110 029, India
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