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Contribution of TGFβ1 Codon 10 Polymorphism to High Myopia in an Ethnic Kashmiri Population from India

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Abstract

This study looks at novel variants of the TGFβ1 gene and their potential association with high myopia in an ethnic population from Kashmir, India. Allele frequencies of 247 Kashmiri subjects (from India) with high myopia and 176 ethnically matched healthy controls were tested for Hardy–Weinberg disequilibrium. The genotype and allele frequencies were evaluated using chi-square or Fisher’s exact tests. One of the three SNPs in codon 10 showed a significant difference between patients and control subjects (rs1982073: p genotype = 0.003, p allele = 0.001). There were no statistically significant differences between patients and control subjects for the other two SNPs, rs1800471 at codon 25 and a novel variant at codon 52. SNP rs1982073, substituting proline with leucine, appeared to be significantly associated with high myopia (p < 0.05). In silico predictions show that substitutions are likely to have an impact on the structure and functional properties of the protein, making it imperative to understand their functional consequences in relation to high myopia.

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Acknowledgments

This work was supported by the Department of Biotechnology, Ministry of Science and Technology, and grants to SR by the Department of Science and Technology, New Delhi, under the Young Women Scientist scheme (Project No. SR/WOS-A/LS-232/2007).

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Authors and Affiliations

  1. Department of Biotechnology, Science Block, University of Kashmir, Hazratbal, Srinagar, 190006, Jammu and Kashmir, India

    Shabhat Rasool, Ishfaq Ahmed, Rubiya Dar, Sheikh Gazalla Ayub & Khurshid I. Andrabi

  2. Ophthalmology Unit, SMHS Hospital, Karan Nagar, Srinagar, Jammu and Kashmir, India

    Sabia Rashid

  3. Department of Statistics, University of Kashmir, Hazratbal, Srinagar, Jammu and Kashmir, India

    Tariq Jan

  4. Department of General Medicine, Sub-District Hospital, Kangan, Srinagar, Jammu and Kashmir, India

    Tahir Ahmed

  5. Immunology and Molecular Medicine SKIMS, Srinagar, Jammu and Kashmir, India

    Niyaz A. Naikoo

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  1. Shabhat Rasool
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Correspondence to Khurshid I. Andrabi.

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Rasool, S., Ahmed, I., Dar, R. et al. Contribution of TGFβ1 Codon 10 Polymorphism to High Myopia in an Ethnic Kashmiri Population from India. Biochem Genet 51, 323–333 (2013). https://doi.org/10.1007/s10528-012-9565-6

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  • DOI: https://doi.org/10.1007/s10528-012-9565-6

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