May 2003
Volume 44, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2003
Molecular Genetic Studies of Glaucomas in South India
Author Affiliations & Notes
  • G. Kumaramanickavel
    Genetics Molecular Biology, Vision Research Foundation Sankara Nethralaya, Chennai, India
  • S. Sripriya
    Genetics Molecular Biology, Vision Research Foundation Sankara Nethralaya, Chennai, India
  • G.J. Ronnie
    Glaucoma, Medical Research Foundation Sankara Nethralaya, Chennai, India
  • R. Sangeetha
    Glaucoma, Medical Research Foundation Sankara Nethralaya, Chennai, India
  • A. Hemamalini
    Glaucoma, Medical Research Foundation Sankara Nethralaya, Chennai, India
  • P.G. Pradeep
    Glaucoma, Medical Research Foundation Sankara Nethralaya, Chennai, India
  • J. Amali
    Glaucoma, Medical Research Foundation Sankara Nethralaya, Chennai, India
  • L. Vijaya
    Glaucoma, Medical Research Foundation Sankara Nethralaya, Chennai, India
  • Footnotes
    Commercial Relationships  G. Kumaramanickavel, None; S. Sripriya, None; G.J. Ronnie, None; R. Sangeetha, None; A. Hemamalini, None; P.G. Pradeep, None; J. Amali, None; L. Vijaya, None.
  • Footnotes
    Support  Chennai Wellingdon Corporate Foundation, Chennai, India
Investigative Ophthalmology & Visual Science May 2003, Vol.44, 1120. doi:
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      G. Kumaramanickavel, S. Sripriya, G.J. Ronnie, R. Sangeetha, A. Hemamalini, P.G. Pradeep, J. Amali, L. Vijaya; Molecular Genetic Studies of Glaucomas in South India . Invest. Ophthalmol. Vis. Sci. 2003;44(13):1120.

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

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Abstract

Abstract: : Purpose: Primary angle closure (PACG) and open angle (POAG) glaucomas are equally distributed in the south Indian patients. Molecular genetic basis of the disease in this population is less understood and hence this study. Methods: Samples were drawn from a hospital and population-based screening program. After complete ophthalmic examination DNA from 60 patients [36:POAG, 4: Juvenile open angle glaucoma (JAOG) and 20: Ocular hypertension (OHT)] were screened for TIGR/MYOC and optineurin gene mutations. Ninety-five patients (65: POAG, 7: JOAG and 23: OHT) were screened for the association of polymorphism in glutathione S transferase gene for glaucoma susceptibility. Fifteen PACG families with 2 or more affected members were included for whole genome search (WGS). Results: Six nucleotide variations in the MYOC gene were observed. Two variations in promoter region: C to T at -15 bp and A between -18 and -17 bp upstream to the transcription start site in fourteen and six patients respectively. Twenty-two patients with (G to A; N76K) and two patients with (G to T; Q48H) in exon 1; 16 patients with IVS2 795+35 A to G and 5 patients with + 276 del A in 3' UTR were observed. The novel nucleotide variation was not seen in thirty-five unrelated healthy controls but the other variations were polymorphisms. The frequency of the GSTM1 positive individuals among the glaucoma (87%) was significantly higher than in controls (56%) with an odds ratio of 5.29 (95% CI 1.85-15.83; p =0.00024). Partial genome search for PACG has not resulted in any linkage. Conclusions: TIGR/MYOC gene is responsible for mutations in 2.5% of south Indian OAG patients. We suggest that GSTM1 polymorphism could be associated with the development of OAG. In the WGS, the clinical criteria for PACG patients are revised for homogeneity.

Keywords: genetics • mutations • linkage analysis 
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