May 2004
Volume 45, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2004
A STUDY OF CYP1B1 SNPs IN PRIMARY CONGENITAL GLAUCOMA CASES FROM INDIA
Author Affiliations & Notes
  • D. Balasubramanian
    L V Prasad Eye Institute, Hyderabad, India
  • S. Chakrabarti
    L V Prasad Eye Institute, Hyderabad, India
  • K. Kaur
    L V Prasad Eye Institute, Hyderabad, India
  • A.K. Mandal
    L V Prasad Eye Institute, Hyderabad, India
  • A.B. M. Reddy
    L V Prasad Eye Institute, Hyderabad, India
  • S.E. Hasnain
    Centre for DNA Fingerprinting and Diagnostics, Hyderabad, India
  • Footnotes
    Commercial Relationships  D. Balasubramanian, None; S. Chakrabarti, None; K. Kaur, None; A.K. Mandal, None; A.B.M. Reddy, None; S.E. Hasnain, None.
  • Footnotes
    Support  India Dept of Biotechnology
Investigative Ophthalmology & Visual Science May 2004, Vol.45, 4402. doi:
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      D. Balasubramanian, S. Chakrabarti, K. Kaur, A.K. Mandal, A.B. M. Reddy, S.E. Hasnain; A STUDY OF CYP1B1 SNPs IN PRIMARY CONGENITAL GLAUCOMA CASES FROM INDIA . Invest. Ophthalmol. Vis. Sci. 2004;45(13):4402.

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

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Abstract

Abstract: : Purpose: To screen CYP1B1 single nucleotide polymorphisms (SNPs) in primary congenital glaucoma (PCG) cases from India and evaluate their possible role in CYP1B1 mutations and disease predisposition. Methods: 144 PCG cases from 12 different ethnic backgrounds of India were screened by direct sequencing of the coding and promoter region of CYP1B1. Six commonly associated SNPs in the promoter (–13 T>C) and coding regions (R48G, A119S, V432L, D449D, and N453S) were analyzed in all the probands with and without mutations in this gene. Haplotypes were constructed from these SNPs and haplotype blocks were investigated to see if these were specific to any of the CYP1B1 mutations, PCG phenotype or population under study. Results: A total of 17 different homozygous mutations in CYP1B1 attributed to 32.0% of the PCG cases while 7.6% were heterozygous. R368H mutation was the most common in all of them. Among the non–CYP1B1 cases, a heterozygous mutation in MYOC (Gln48His) was noted in 6% of the probands. Five different haplotype blocks were seen in probands exhibiting CYP1B1 mutations, of which three were heterozygous variants at any of the 5 SNPs in the coding region. The "TCGGTA" was the most common haplotype block (72.0%) and was seen in majority of the cases with R368H mutation (65.3%). Around 51.2% of the probands without CYP1B1 mutations also showed these 5 blocks. But the "TCGGTA" was different from "CCGGTA", which was observed in higher frequencies in other PCG populations (94.7%). However the frequencies of these haplotypes among the controls were similar to other populations (0.32). Conclusions: The haplotype trend in Indian patients was different to other PCG populations with a relatively higher frequency of "TCGGTA" haplotype block that did not bear any ethnic specificity. Moreover the presence of "T" allele in the promoter region increased the relative risk of having PCG by 6.6 fold in Indian populations. The heterozygous variants in the haplotype blocks could be due to independent occurrence of these mutations through multiple events, or due to recombination during the divergence of populations. But the presence of these 5 haplotype blocks indicated a higher degree of susceptibility towards PCG vis–à–vis CYP1B1 mutations in Indian populations.

Keywords: genetics • gene screening • mutations 
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