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Single locus and haplotype association of ENPP1 gene variants with the development of retinopathy among type 2 diabetic patients

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Abstract

Purpose

The present study was designed to investigate the associations of ENPP1 variants (rs997509, rs1799774, rs1044498 (K121Q), and rs7754561) with diabetic retinopathy (DR) derived from type 2 diabetes mellitus (T2DM).

Methods

Total 501 T2DM patients with and without DR were studied as the case and control group, respectively. All four variants were genotyped by TaqMan assay. Statistical analyses were performed through SNPAlyze and SPSS software.

Results

The statistical analysis of clinical characteristics represented significant differences of HbA1c, and fasting blood sugar between two study groups. The results indicated that among four studied variants, rs997509 and rs7754561 were significantly associated with DR under recessive (P = 0.01) and dominant (P = 0.01) models of inheritance, respectively. One haplotype (T-A-T-A) with a frequency higher than 0.05 was associated with the increased risk of DR (P = 0.04). Genotype–phenotype sub-analysis of rs997509 and rs7754561 showed that only rs7754561 had significant associations with systolic and diastolic blood pressures (P = 0.03 and P = 0.01, respectively); more specifically, A allele carriers of rs7754561 were in a higher risk of blood pressures.

Conclusions

This study suggested that rs997509 and rs7754561 were associated with the increased risk of DR among Iranians with T2DM and rs7754561 might be a potential genetic marker for prognosis and diagnosis of DR.

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Acknowledgements

We would like to thank members of Razi hospital diabetic center and Dr. Ashtiani medical diagnostic Laboratory for their excellent technical assistance. We also gratefully express our thanks to all those blood donors of the study subjects for the contribution of their DNA samples.

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Authors and Affiliations

  1. Cellular and Molecular Research Center, School of Medicine, Guilan University of Medical Sciences, Rasht, Iran

    Sahar Gohari-Lasaki, Alireza Sharafshah & Parvaneh Keshavarz

  2. School of Medicine, Guilan University of Medical Sciences, Rasht, Iran

    Saima Abbaspour

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  1. Sahar Gohari-Lasaki
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  2. Alireza Sharafshah
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  3. Saima Abbaspour
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  4. Parvaneh Keshavarz
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Correspondence to Parvaneh Keshavarz.

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All authors of the present study declare that they have no conflict of interest.

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All methods performed in studies involving human participants were in accordance with the ethical standards of the institutional research committee [IR.GUMS.REC.1394.341] and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards.

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Informed consent was obtained from all individual participants included in the study.

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Gohari-Lasaki, S., Sharafshah, A., Abbaspour, S. et al. Single locus and haplotype association of ENPP1 gene variants with the development of retinopathy among type 2 diabetic patients. Int Ophthalmol 40, 639–647 (2020). https://doi.org/10.1007/s10792-019-01224-3

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  • DOI: https://doi.org/10.1007/s10792-019-01224-3

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