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Association of KIF26B and COL4A4 gene polymorphisms with the risk of keratoconus in a sample of Iranian population

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Abstract

Purpose

Keratoconus (KTCN) is a congenital corneal eye disorder which correlates with abnormal distribution of the collagen fiber and causes loss of visual acuity. COLA4A gene has a substantive role in collagen synthesis, whereas KIF26B as a new candidate gene belonging to kinesin superfamily (KIFs) has been suggested to be associated with this disease. So, in this preliminary study, we simultaneously evaluated the effects of two single nucleotide polymorphisms, 222855rs7C/T and rs12407427C/T, on KTCN susceptibility in a sample of Iranian population.

Methods

The present case–control study consists of 144 patients confirmed with KTCN and 153 healthy controls. The variants are genotyped by using amplification refractory mutation system–polymerase chain reaction method.

Results

The findings disclosed that rs2228557C/T and rs12407427C/T polymorphisms significantly increased the risk of KTCN in measured (codominant1; p = 0.0001, codominant2; p = 0.0001, codominant3; p = 0.0006, dominant; p = 0.0001, over-dominant; p = 0.0005) and (codominant1; p = 0.0001, codominant3; p = 0.0005, recessive; p = 0.0001) inheritance patterns, respectively.

Conclusion

Our results did prove a statistical association of both rs2228557 and rs12407427 genotypes (TT and CT + CC) and allele (T) with KTCN susceptibility in Iranian population. Further studies in other ethnicities are required to verify our results.

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Authors and Affiliations

  1. Department of Clinical Biochemistry, School of Medicine, Shahid Sadoughi University of Medical Sciences, Yazd, Iran

    Saman Sargazi

  2. Cellular and Molecular Research Center, Zahedan University of Medical Sciences, Zahedan, Iran

    Saman Sargazi, Mahdiyeh Moudi, Milad Heidari Nia & Ramin Saravani

  3. Department of Medical Genetics, School of Medicine, Shahid Sadoughi University of Medical Sciences, Yazd, Iran

    Mahdiyeh Moudi

  4. Department of Biology, Faculty of Science, Isfahan University, Isfahan, Iran

    Milad Heidari Nia

  5. Department of Clinical Biochemistry, School of Medicine, Zahedan University of Medical Sciences, Zahedan, Iran

    Ramin Saravani

  6. Infectious Diseases and Tropical Medicine Research Center, Resistant Tuberculosis Institute, Zahedan University of Medical Sciences, Zahedan, Iran

    Hamid Malek Raisi

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  1. Saman Sargazi
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  2. Mahdiyeh Moudi
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Correspondence to Ramin Saravani.

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Sargazi, S., Moudi, M., Heidari Nia, M. et al. Association of KIF26B and COL4A4 gene polymorphisms with the risk of keratoconus in a sample of Iranian population. Int Ophthalmol 39, 2621–2628 (2019). https://doi.org/10.1007/s10792-019-01111-x

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  • DOI: https://doi.org/10.1007/s10792-019-01111-x

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