September 2016
Volume 57, Issue 12
Open Access
ARVO Annual Meeting Abstract  |   September 2016
Identification of SIX6 gene variants in Indian Primary Open Angle Glaucoma patients
Author Affiliations & Notes
  • Periasamy Sundaresan
    Genetics, Aravind Med Res Foundation, Madurai, Tamil Nadu, India
  • Mohd. Hussain Shah
    Genetics, Aravind Med Res Foundation, Madurai, Tamil Nadu, India
  • Krishnadas subbiah Ramasamy
    glaucoma, Aravind Eye Hosplital, Madurai, Tamilnadu, India
  • Manju Pillai
    glaucoma, Aravind Eye Hosplital, Madurai, Tamilnadu, India
  • Footnotes
    Commercial Relationships   Periasamy Sundaresan, None; Mohd. Shah, None; Krishnadas Ramasamy, None; Manju Pillai, None
  • Footnotes
    Support  none
Investigative Ophthalmology & Visual Science September 2016, Vol.57, 823. doi:
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      Periasamy Sundaresan, Mohd. Hussain Shah, Krishnadas subbiah Ramasamy, Manju Pillai; Identification of SIX6 gene variants in Indian Primary Open Angle Glaucoma patients. Invest. Ophthalmol. Vis. Sci. 2016;57(12):823.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose : To identify known as well as novel, disease-associated rare and common variants of SIX6 gene in an Indian population with primary open angle glaucoma.

Methods : 464 subjects with primary open angle glaucoma and 450 controls were recruited with informed consent for this study. Genomic DNA was isolated from peripheral blood of recruited individuals by salting out method. The coding exons of SIX6 gene along with the intron exon boundaries were screened by Sanger sequencing with appropriate primers and Genotyping for the SNP rs33912345 was performed using Taqman based allelic discrimination Assay.

Results : We have sequenced 65 POAG cases and 65 controls and identified two rare variants and two reported common variants in the SIX6 gene. Out of these two common variants, we have chosen rs33912345 based on the significant association of this variant with POAG in several populations. To confirm the association of rs33912345 with Indian cohort of POAG , we genotyped 399 POAG cases and 383 controls by Taqman based allelic discrimination Assay. Our study result did not show significant association for rs33912345 with POAG.

Conclusions : Gene Marker-rs33912345 is not associated with POAG in Indian population. The frequency of this allele is almost same in Indian primary open angle glaucoma cases and controls. Investigating association between genetic variants in genes associated with primary open angle glaucoma (POAG) will be our research interest.

This is an abstract that was submitted for the 2016 ARVO Annual Meeting, held in Seattle, Wash., May 1-5, 2016.

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